Welcome to the ACMG Education Center. Advance YOUR genetics and genomics career through educational programs offered by the ACMG.

From the fundamentals of genetics and genomics to the best practices of clinical care, participate in the learning opportunities ACMG offers to physicians, scientists and health professionals.

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Cystic Fibrosis Carrier Screening

Genomics in Clinical Practice Educational Series - Cystic Fibrosis Carrier Screening

 

The series focuses on the role and use of genome and exome sequencing technologies in clinical practice; helping current physicians and other healthcare professional who are not board-certified geneticists to understand the application of genetics and genomics in their practice in the areas of Genetic Testing, Genomic Sequencing, Genetic Counseling, Sequencing and Interpretation, and Reporting and Delivery Results.

This webinar contains several modules addressing different aspects of the application of genomic testing to the particular area of clinical use.

This activity is supported by an unrestricted educational grant from Illumina, Inc.

 

Please Click Here for More Course Information

Educational Credits Available
Amount of Credits: 3 (CME)

Registration and Fees
ACMG Member and ACMG Trainee (no credits) - free
Non-members- No Credits Available ($30)
ACMG Member with educational credits ($15)
Non-members with educational credits ($55)

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Noninvasive Prenatal Screening (NIPS)

Genomics in Clinical Practice Educational Series - Noninvasive Prenatal Screening (NIPS)

 

The series focuses on the role and use of genome and exome sequencing technologies in clinical practice; helping current physicians and other healthcare professional who are not board-certified geneticists to understand the application of genetics and genomics in their practice in the areas of Genetic Testing, Genomic Sequencing, Genetic Counseling, Sequencing and Interpretation, and Reporting and Delivery Results.

Each webinar contains several modules addressing different aspects of the application of genomic testing to the particular area of clinical use.

This activity is supported by an unrestricted educational grant from Illumina, Inc.

 Please Click Here for More Course Information

Educational Credits Available

Amount of Credits: 3 (CME)

Registration and Fees

ACMG Member and ACMG Trainee (no credits) - free
Non-members- No Credits Available ($30)
ACMG Member with educational credits ($15)
Non-members with educational credits ($55)

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MOC Part IV: Evaluation of Abnormal Maternal Serum Screening

It is appropriate to offer all prenatal patients aneuploidy assessment either through screening or diagnostic testing. If a patient opts for aneuploidy screening, this may be accomplished through first trimester, integrated or sequential screening beginning in the first trimester or, in the second trimester, through triple or quadruple screening. The results of the screening refines a patient’s age related risk for Down syndrome and other aneuploidies. Patients identified to be at increased risk for fetal aneuploidy through any of these screening methods requires further evaluation, including confirmation of gestational age, sonographic evaluation of fetal anatomy, and prenatal diagnosis.

Aneuploidy screening that incorporates second trimester analytes include maternal serum alpha fetoprotein (MSAFP) which can identify fetuses at risk for open fetal defects, such as neural tube abnormalities, omphalocoele, or gastroschisis, as well as rarer disorders such as congenital nephrosis.  It can also signal an unsuspected multiple gestation or fetal demise. Patients with unexplained elevations in MSAFP remain at risk for adverse pregnancy outcomes including intrauterine growth restriction, placental abruption, or stillbirth.

The management of a patient with abnormal maternal serum screening results requires confirmation of the patient’s gestational age, and review of her family, medical, and pregnancy histories.  The patient should undergo counseling regarding the clinical implications and significance of the increased risk, and access to a more definitive evaluation for the fetal condition. The discussion should include the benefits and risks of available testing, as well as the importance of the information to the patient. Targeted prenatal imaging for fetal anomalies and invasive diagnostic testing (chorionic villus sampling or amniocentesis) are routinely offered to patients with abnormal serum screening based on the serum screening results.  

 

ACMG Members and ACMG Trainees ($25)

Non-members ($75)

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ACMG Genomics Case Conference September 2015

Clinical Exome Sequencing: MEDICAL Genetics is Required to Reach a Diagnosis

Hosted by the University of Chicago

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During this session, a team from the University of Chicago will review the utility of exome sequencing, drawing on cases from our laboratory, demonstrating rare and more common conditions with congenital to adult-onset.  

This activity is supported by an unrestricted educational grant from QIAGEN Bioinformatics and the Ingenuity Clinical Decision Support Platform.

 Course Information - Click here for details

Educational Credits Available
Amount of Credits: 1
ACMG Members and ACMG Trainees free
ACMG Member with educational credits ($15)
Non-members ($30)
Non-members with educational credits ($55)

 

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MOC Part IV: Genetic Counseling for Preconception or Prenatal Diagnosis

Genetic counseling for preconception or prenatal diagnosis is an increasingly common indication for genetic referral. This may relate to concerns regarding maternal age; abnormal serum or first trimester screening; family history of inherited disease; previous affected child with a congenital anomaly; population screening for cystic fibrosis, common Ashkenazi Jewish disorders, or sickle cell disease; or maternal disease which may affect pregnancy. Patients may inquire about diagnostic procedures, which require education and clarification. Genetic counseling provides valuable information regarding the indications for procedures and their risks and benefits. A systematic approach is important to maintain adequacy of counseling, patient autonomy and safety, and procedural risk management.

ACMG Members and ACMG Trainees ($25)
Non-members ($75)

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MOC Part IV: Assessment and Management of Fragile X syndrome

Fragile X syndrome (FraX) is the most common hereditary form of intellectual disability with an incidence of approximately 1 in 2,500 affected individuals. There is significant variation in prevalence data. FraX involves an unstable trinucleotide repeat expansion (CGG). Individuals with full mutation of FraX have >200 CGG repeats and premutation carriers have 55-200 repeats. The clinical phenotype for fragile X syndrome in most males is recognizable, but can be subtle in females with both the full mutation and premutation of FraX. The clinical variability for fragile X syndrome is related to the degree of methylation, gene silencing, and AGG interruptions. Carriers of a prematuation can present with one or more clinical disorders: mild cognitive and/or behavioral deficits; primary ovarian failure (POF); fragile X-associated tremor/ataxia syndrome (FXTAS). Individuals with both the full mutation and premutation of FraX require lifetime quality medical service from a clinical geneticist, including diagnostic confirmation, clinical evaluation, laboratory testing, and health supervision/age-specific anticipatory guidance, management of disease-specific manifestations, genetic counseling, and discussion of current approaches to therapy.

 

ACMG Members and ACMG Trainees ($25)
Non-members ($75)

 

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MOC Part IV: Classic Galactosemia

Classic Galactosemia is an autosomal recessive disorder caused by impairment in the enzyme Galactose-1-Phosphate uridyltransferase (GALT). This creates an accumulation of galactose-1-phosphate, which has a toxic effect on the liver producing prolonged neonatal jaundice of the newborn. Enzyme activity is diagnostic and DNA analysis can be helpful. There are to some extent genotype-phenotype correlations with respect to enzyme activity and outcomes, however this has currently little or no impact on management. In the differential diagnosis are variant forms of transferase deficiency, and deficiencie s o f UDPgalactos e epimeras e (GALE ) can lead to elevated galactose-1-phosphate levels but normal GALT activity. A screen positive newborn for GALT deficiency requires immediate change of lactose containing milk to soy-based formula while evaluation for Classic Galactosemia continues. Chronic outcome of treated newborns may include cataracts, dyspraxic speech, growth restriction, ataxia, and premature ovarian insufficiency. All patients require quality medical services from a metabolic specialist, including clinical evaluation, diagnostic confirmation by laboratory testing to include pre-feed, RBC galactose-1-phosphate and GALT activity preventive management of disease-specific manifestations, treatment and genetic counseling. Carrier testing in classic galactosemia is possible with enzyme assay but may be improved with DNA testing for identified mutations and prenatal diagnosis is possible only with DNA analysis, so all families should be offered DNA testing.

ACMG Members and ACMG Trainees ($25)

Non-members ($75)

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MOC Part IV: Down Syndrome

Children with Down syndrome have multiple co-occurring conditions and intellectual disability as a result of their chromosome abnormality. Although there is some variability in terms of the medical problems that an affected individual might encounter, many of the medical issues that arise occur with a high enough frequency to require ongoing assessment. In addition, since individuals with Down syndrome experience some degree of intellectual disability, all will require early intervention, special education services, and special living and working arrangements in adulthood that require coordination of multiple services. Close monitoring is required to identify any Down syndrome-related conditions that might occur so that appropriate intervention can be undertaken to maximize growth, development and health.

ACMG Members and ACMG Trainees ($25)
Non-members ($75)

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MOC Part IV: Evaluation of the Individual with Suspected Marfan Syndrome

American College of Medical Genetics has recently published guidelines for evaluation of the individual with features of Marfan syndrome. This guideline reviews the revised (2010) consensus criteria for the diagnosis of Marfan syndrome as well as recommended medical management of individuals confirmed to have Marfan syndrome. In addition the guideline addresses other conditions considered in the differential diagnosis of Marfan syndrome with recommendations for medical management. A common referral to clinical geneticists is the tall, lanky individual with some skeletal manifestations suggestive of Marfan syndrome. A correct diagnosis is critical such that unaffected individuals are not inappropriately restricted and affected individuals are monitored appropriately.

ACMG Members and ACMG Trainees ($25)
Non-members ($75)

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MOC Part IV: General Genetics Patient

The approach to the evaluation of the patient in the Medical Genetics clinic includes the key elements of diagnosis, management and genetic counseling.

As with all patients, a thorough review of the medical history including birth history, developmental history and review of systems is essential. Obtaining documentation of pertinent imaging studies and laboratory evaluations is also key. Constructing a 3 generation pedigree documenting individuals with the same or similar findings is of the upmost importance as is documentation of other findings such as cognitive impairment, birth defects, known genetic disorder and cancer.

Physical exam should include documentation of height, weight and head circumference and these measurements should be plotted on the appropriate growth chart(s). A careful exam should be performed with special attention to the presence or absence of pertinent physical findings including dysmorphic features, if indicated.

Diagnosis may require ordering appropriate laboratory tests and/or imaging studies.

Once the diagnosis is established, surveillance should be addressed, using published guidelines whenever possible, and the patient/family should be provided with appropriate references.

Also, once the diagnosis is established, genetic counseling should be provided to the patient and/or the appropriate family members.

Finally a plan for follow-up, if indicated, should be documented.

ACMG Members and ACMG Trainees ($25)
Non-members ($75)

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MOC Part IV: Management of Patients with MCAD Deficiency

MCAD (medium chain acyl-CoA dehydrogenase) deficiency is one of the most common inborn errors of metabolism. Affected individuals are unable to metabolize medium chain fat efficiently. During stressful fasting (such as during intercurrent illnesses) they are at risk for medical problems including hypoglycemia, liver dysfunction, Reyes-like disorder, brain damage or death. There is emerging evidence that patients with more severe mutations may be at increased risk for poor outcome.

 

ACMG Members and ACMG Trainees ($25)
Non-members ($75)

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MOC Part IV: Neurofibromatosis-Type 1 (NF1)

Neurofibromatosis-Type 1 (NF1) is a common autosomal dominant genetic condition with an incidence of approximately 1 in 3500. NF1 presents as a multisystem disorder with marked clinical variability. While many patients with ND1 have a generally benign condition without significant medical or developmental problems, approximately 1/3 - 1/2 of patients may have medical and/or developmental problems that require prompt diagnosis, evaluation, and treatment. Close monitoring is required to identify any NF1-related problems that might occur so that appropriate intervention can be undertaken to maximize growth, development, and health.

ACMG Members and ACMG Trainees ($25)
Non-members ($75)

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MOC Part IV: Counseling for Inherited Cancer Risk

Inherited predisposition to cancer may be seen in approximately 5-10% of patients with cancer, particularly those involving breast and ovarian cancer, colon cancer, and uterine cancer. Genetic consultation for inherited cancer risk provides valuable information regarding potential risk of cancer development and the value of genetic testing. Persons found to have deleterious mutations in known cancer syndrome genes may benefit from risk reduction strategies, including prophylactic surgery, chemoprevention, and/or increased cancer surveillance. Additionally, patients may benefit from a cancer risk assessment to provide tailored screening, even when a mutation in a known cancer syndrome gene cannot be identified.  

ACMG Members and ACMG Trainees ($25)
Non-members ($75)

 

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MOC Part IV: Hearing Loss

One in every 300-500 children born in the United States has hearing loss. The prevalence of hearing loss increases with age; 40-50% of individuals experience hearing loss by age 75. Hearing loss is etiologically heterogeneous and can be caused by both genetic and environmental factors. Sixty percent of congenital and early childhood hearing loss is genetic. Forty percent of congenital and early childhood hearing loss is caused by environmental factors; congenital cytomegalovirus (CMV) infection remains an important cause. The contribution of genes to later onset forms of hearing loss can be difficult to discern, but genetic factors are clearly involved in many cases. Early hearing intervention in deaf and hard of hearing children is effective in facilitating speech and language development. Genetic hearing loss can be inherited as an autosomal recessive, autosomal dominant, X-linked, or matrilineal trait. Thirty percent of genetic hearing loss is syndromic. More than 400 genetic syndromes have been described that include hearing loss as a feature. For some syndromes, the non-auditory features may be subtle or even absent at the time the hearing loss is noted, especially in early childhood. Many forms of syndromic hearing loss demonstrate marked variability. Seventy percent of genetic hearing loss is nonsyndromic. Nonsyndromic hearing loss has been associated with more than 100 genes. Eighty percent of nonsyndromic hearing loss is autosomal recessive. The predominance of autosomal recessive forms of congenital or early childhood hearing loss leads to more than 95% of newborns with hearing loss being born to hearing parents. Mutations in the GJB2 gene encoding the gap junction protein Connexin 26 account for the largest percentage of autosomal recessive early childhood hearing loss in many populations. Determining the etiologic cause of an individual’s hearing loss may impact clinical management, especially if an unsuspected syndromic form of hearing loss is identified. Etiologic diagnosis also improves the precision of genetic counseling and estimations of recurrence in families. However, the extreme etiologic heterogeneity of hearing loss challenges traditional approaches to establishing an etiologic diagnosis, necessitating careful and thorough clinical and diagnostic evaluation including comprehensive medical evaluation and genetic and other medical testing. Evaluation of patients and families with hearing loss also requires attention to the linguistic and cultural distinctiveness that sometimes accompanies hearing loss and deafness.

ACMG Members and ACMG Trainees ($25)
Non-members ($75)

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MOC Part IV: Autism Spectrum Disorder

The autism spectrum disorders present with impaired socialization and communication in association with stereotypic behaviors.  The role of the geneticist in the evaluation of patients with autism spectrum disorder is to define a specific etiology if possible, and to provide counseling based on the results of such investigations.

In order to provide the appropriate testing, the accuracy of the autism diagnosis should be confirmed.  Review of the medical and family history, and a physical exam of the patient should be completed.  Laboratory testing strategy should include a karyotype analysis and molecular analysis for fragile X syndrome, further testing will be guided by the patient specific information obtained through history taking, examination and review of previously performed laboratory studies. 

Counseling of the family regarding recurrence risk will vary depending whether a specific underlying cause is identified, or if multifactorial inheritance is most likely.  Counseling may also include the discussion of therapeutic interventions that benefit the patient, for example speech therapy, and other interventions which are of no documented benefit and possibly dangerous, such as chelation therapy.

ACMG Members and ACMG Trainees ($25)
Non-members ($75)

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Adult Genomics Case Conference November 2015

Adult Genomic Case Conference

Hosted by Baylor College of Medicine

Click Launch for details.

 

 

The ACMG Adult Genetics Special Interest Group offers quarterly case conferences that address interesting, complex and/or challenging genetic disorders seen in adults. A team of genetics providers from Baylor College of Medicine will present cases and lead a discussion on issues involved in diagnosing and managing adults with genetic disorders. Genetic tests and their results and interpretation will also be reviewed along with issues regarding counseling for at risk family members.

The overarching goal of this educational activity is to create an awareness of genetic complexities observed in adult patients. It will also encourage the adult genetics community to work together towards diagnosis and management of the patient and learn from each other’s experiences.

Target audience

  1. Clinical geneticists; genetic counselors; pediatric, obstetric, and maternal-fetal specialists; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, genetically influenced health problems.
  2. Laboratory directors and technicians who conduct genetic testing, researchers involved in the discovery of genetic disorders and treatments and any healthcare and public health professionals who have an in interest medical and clinical genetics and genomics.

Please Click Here for More Course Information

 

Educational Credits Available
Amount of Credits: 1 (CME)
ACMG Members and ACMG Trainees free
ACMG Member with educational credits ($15)
Non-members ($30)
Non-members with educational credits ($55)

 

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American Board of Medical Genetics and Genomics (ABMGG) MOC: Safety Module

The ABMGG Safety Module is comprised of an in-depth discussion of key, critical topics identified as impacting patient healthcare safety.  Each of the topics covered include current references and specific clinical case examples that are relevant to medical genetics and genomics.  The cases cover instructive yet challenging situations relevant to both clinical genetics and laboratory genetics and genomics.  

Diplomates are required to complete one Safety module per specified timeframe of their ABMGG Continuing Certification MOC program.

One safety module will be posted, it will be available for a 10 year period, and will then be reviewed and updated as needed.

The safety module consists of:

  • PowerPoint presentation of approximately 85 slides, with references imbedded with each topic area.

 

  • Post-reading test - Consists of 6 multiple-choice questions. Responses are scored immediately. 

    The test may be taken as often as necessary to achieve a passing score of 80% or better. The system does not record the number of attempts. If you do not achieve a passing score on the post-reading test, the program will identify which questions you answered incorrectly so that you can review the module and try again.

Educational Credits

Date of Release: August 28th, 2017
Expiration Date: December 31, 2020
Estimate Time of Completion: 3 hours
Course must be completed by the expiration dates

For more information, click here. 

Registration and Fees
CME Credits and MOC Part II Certificate ($25)
MOC Part II Certificate Only ABMGG Diplomates ($0/no cost)

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MOC Part IV: Assessment for the possibility of Cowden Syndrome

Cowden syndrome (also called Cowden disease or multiple hamartoma syndrome), is an autosomal dominant rare hereditary cancer syndrome condition that occurs most commonly (80%) from a mutation in the PTEN gene on chromosome 10q23. Clinical features include trichilemmomas, macrocephaly, mucocutaneous papillomatous papules, palmoplantar keratoses and an increased risk of malignancies including breast, thyroid, endometrial, skin, renal and colon carcinomas. Patients with Cowden syndrome have a 35% lifetime risk for thyroid cancer, a 35% lifetime risk for renal cell carcinoma and a lifetime risk of cutaneous melanoma of >5%.  Females with Cowden syndrome have an 85% lifetime risk of developing breast cancer (average age of diagnosis is 38-46 years), and up to 28% lifetime risk for endometrial cancer. Benign multinodular goiter of the thyroid, uterine fibroids, benign breast disease and gastrointestinal polyps are also common in Cowden syndrome. Mutations in three other genes (SDHB, SDHD, and KLLN) have been identified in patients with Cowden syndrome or Cowden-like syndrome, in addition to the PTEN gene.

ACMG Members and ACMG Trainees ($25)
Non-members ($75)

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MOC Part IV: Turner Syndrome and Klinefelter Syndrome

Turner syndrome

Turner syndrome is a common disorder due to aneuploidy of the sex chromosomes. This MOC provides practice performance assessments for a total of 5 patients with TS.

Turner syndrome (TS) is used to describe phenotypic females who have characteristic physical features and complete or partial absence of the second sex chromosome, with or without cell line mosaicism.  It occurs in 1 in 2500 to 1 in 4000 live-born females.  Within the definition of Turner syndrome, the following are specifically excluded:

  • Those with a 45,X cell line but without clinical features of TS
  • Phenotypic males, regardless of karyotype
  • Small terminal deletions of Xp that do not include Xp22.3, which may lead only to short stature
  • Deletions of Xq distal to Xq24  for which the diagnosis of premature ovarian failure is more appropriate

The clinical features of Turner syndrome vary widely among affected females and typically include growth failure, pubertal delay, lymphedema of the hands and/or feet, structural heart defects (most commonly coarctation of the aorta and/or bicuspid aortic valve), and learning disabilities.

Klinefelter Syndrome

Klinefelter syndrome (47,XXY) is one of the most common sex chromosome abnormalities, affected approximately 1 in 660 newborn males.  Approximately 20% of males with Klinefelter syndrome have a higher grade aneuploidy (such as 48,XXXY) or mosaicism (47,XXY/46,XY).  The phenotype of individuals with Klinefelter syndrome is also variable, with the most consistent features being hypergonadotropic hypogonadism, primary testicular failure with reduced testicular volume, tall stature, central adipose distribution, and psychosocial, behavioral, developmental and learning difficulties.

Please review up to 5 charts for patients with Klinefelter syndrome seen by you in the past five years and check the following items if completed and documented in the medical record.   Items do not have to be completed within a single visit. Some items may not be applicable for the patient whose chart you are reviewing. Please select “NA” for “not applicable” to prevent an incorrect deduction in score (unless the item should have been completed as part of the evaluation).  Additionally, the Assessment section of the chart has been divided into sections based on the patient’s age at last evaluation.  You need only fill in the Assessment section that pertains to the age of your patient at last evaluation; please use “NA” for the other ages in the Assessment section.

 

ACMG Members and ACMG Trainees ($25)
Non-members ($75)

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ACMG Genomics Case Conference December 2015

Expanding the Role of Whole Exome Sequencing (WES) into the Prenatal Setting

Hosted by Baylor College of Medicine

Click Launch for details.

 

During The ACMG Genomics Case Conferences, a team from select institutions will present and lead discussions on an intriguing, complex and/or difficult patient case in the area of genomics.  The primary focus of these case conferences will be on the adaptation of exome or genome sequencing technology in clinical care. 

Today a team from Baylor College of Medicine will review the molecular diagnoses in genomic sequencing, drawing on prenatal cases from their clinics.

Click here for course information!

Educational Credits Available
Amount of Credits: 1 (CME)
ACMG Members and ACMG Trainees free
ACMG Member with educational credits ($15)
Non-members ($30)
Non-members with educational credits ($55)

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Adult Genomics Case Conference February 2016

Adult Genetics in the Pacific Northwest: The View from Seattle

Hosted by the University of Washington

Click Launch for details.

 

The Adult Genetics Special Interest Group of the American College of Medical Genetics & Genomics is offering a quarterly case conference series to discuss interesting, complex and/or challenging genetic disorders seen in adults.
A team of genetics providers, including clinical geneticists and genetic counselors from select host institutions presents 2-3 cases (as time permits) and leads a discussion on issues involved in diagnosing and managing adults with genetic disorders. Genetic tests and their results and interpretation is also reviewed along with issues regarding counseling for at risk family members.
The overarching goal of this educational activity is to create an awareness of genetic complexities observed in adult patients. It will also encourage the adult genetics community to work together towards diagnosis and management of the patient and learn from each other’s experiences.

Target audience

  1. Clinical geneticists; genetic counselors; pediatric, obstetric, and maternal-fetal specialists; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, genetically influenced health problems.
  2. Laboratory directors and technicians who conduct genetic testing, researchers involved in the discovery of genetic disorders and treatments and any healthcare and public health professionals who have an in interest medical and clinical genetics and genomics.

Please Click Here for More Course Information

Educational Credits Available
Amount of Credits: 1 (CME)
ACMG Members and ACMG Trainees free
ACMG Member with educational credits ($15)
Non-members ($30)
Non-members with educational credits ($55)

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Adult Genomics Case Conference May 2016

Adult Genomic Case Conference

Hosted by the University of Colorado

Click Launch for details.

 

The ACMG Adult Genetics Special Interest Group offers quarterly case conferences that address interesting, complex and/or challenging genetic disorders seen in adults. A team of genetics providers from Baylor College of Medicine will present cases and lead a discussion on issues involved in diagnosing and managing adults with genetic disorders. Genetic tests and their results and interpretation will also be reviewed along with issues regarding counseling for at risk family members.

The overarching goal of this educational activity is to create an awareness of genetic complexities observed in adult patients. It will also encourage the adult genetics community to work together towards diagnosis and management of the patient and learn from each other’s experiences.

Target audience

  1. Clinical geneticists; genetic counselors; pediatric, obstetric, and maternal-fetal specialists; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, genetically influenced health problems.
  2. Laboratory directors and technicians who conduct genetic testing, researchers involved in the discovery of genetic disorders and treatments and any healthcare and public health professionals who have an in interest medical and clinical genetics and genomics.

Please Click Here for More Course Information

Educational Credits Available
Amount of Credits: 1 (CME)
ACMG Members and ACMG Trainees free
ACMG Member with educational credits ($15)
Non-members ($30)
Non-members with educational credits ($55)

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Adult Genomics Case Conference August 2016

Adult Genomic Case Conference

Hosted by Emory University School of Medicine

Click Launch for details.

 

 

The Adult Genetics Special Interest Group of the American College of Medical Genetics & Genomics is offering a quarterly case conference series to discuss interesting, complex and/or challenging genetic disorders seen in adults.

A team of genetics providers, including clinical geneticists and genetic counselors from select host institutions presents 2-3 cases (as time permits) and leads a discussion on issues involved in diagnosing and managing adults with genetic disorders. Genetic tests and their results and interpretation is also reviewed along with issues regarding counseling for at risk family members.
The overarching goal of this educational activity is to create an awareness of genetic complexities observed in adult patients. It will also encourage the adult genetics community to work together towards diagnosis and management of the patient and learn from each other’s experiences.

Target audience

  1. Clinical geneticists; genetic counselors; pediatric, obstetric, and maternal-fetal specialists; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, genetically influenced health problems.
  2. Laboratory directors and technicians who conduct genetic testing, researchers involved in the discovery of genetic disorders and treatments and any healthcare and public health professionals who have an in interest medical and clinical genetics and genomics.

Please Click Here for More Course Information

Educational Credits Available
Amount of Credits: 1 (CME)
ACMG Members and ACMG Trainees free
ACMG Member with educational credits ($15)
Non-members ($30)
Non-members with educational credits ($55)

 

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MOC Part IV: 22q11.2 Deletion Syndrome

Assessment and Management of Patients with 22q11.2 deletion syndrome

The 22q11.2 deletion syndrome is one of the most common chromosome abnormalities, with an estimated prevalence of 1 in 4000 individuals.  While a large number of congenital anomalies and health issues have been described in association with this condition, it is unlikely that any given affected person will have every feature.  The most common findings include: 

  • Congenital heart defects, particularly conotruncal heart defects
  • Abnormalities of the palate (cleft palate, velopharyngeal insufficiency)
  • Hypocalcemia, either present at birth or during periods of physical stress
  • Immunological deficiencies
  • Learning disabilities
  • Characteristic facial features

The condition is due most commonly to a recurrent deletion of approximately 2.54-Mb on chromosome 22q11.2 which includes TBX1.  The deletion can be detected through various methods, including FISH analysis, multiplex ligation-dependent probe amplification (MLPA), or chromosomal microarray.  Individuals who have known* atypical deletions or who have duplication of this region should not be included in this module.

*FISH analysis does not determine the size of the deletion; individuals who have a positive FISH for the 22q11.2 deletion may be included in this module.  In rare instances, these patients may actually have deletions that are smaller or larger than the typical deletion, which may be unrecognized in the absence of further studies to accurately determine the extent of the deletion.

ACMG Members and ACMG Trainees ($25)

Non-members ($75)

 

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MOC Part IV: Management of Patients with Urea Cycle Disorders

Urea cycle disorders are characterized by acute and recurrent hyperammonemia.  The typical hyperammonemic crisis presentation is a within a few days of life for severely affected infants, however patients of any age can present with hyperammonemia, typically associated with external stressors such as illness, steroid administration, or childbirth.  Furthermore, there is increasing awareness of individuals who present in adult years with life threatening hyperammonemia.  This Maintenance of Certification Part IV module focuses on patients who have been diagnosed with a urea cycle defect and are being managed during periods of relative stability in the outpatient setting.  

ACMG Members and ACMG Trainees ($25)
Non-members ($75)

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MOC Part IV: Variant of Uncertain Significance (VUS) Result Updating

Next generation sequencing technology has transformed clinical genetic testing and allowed for an ever-increasing number of available testing options. With the expansion of testing, clinical laboratories are increasingly detecting variants in genes associated with genetic disorders. Although detection of variants in an individual’s nucleotide sequence has become simpler with the advent of new technology, determining the effect of the variants on a person’s health often is difficult.1 consequently, a number of identified variants are classified as variants of uncertain significance.2

As evidence on variants advances, classifications may require modification. The American College of Medical Genetics recognizes that laboratories should make an effort to contact providers concerning new clinical interpretations of variants of uncertain significance.3 At the same time, the College contends that, as the number of variants grows, the ability of laboratories to update reports may be unsustainable. Therefore at the time of the patient’s re-evaluation, health-care providers should inquire about variants of uncertain significance to determine if knowledge of the variant has changed.

In addition to re-contacting the genetic testing laboratory that performed testing, clinical geneticists can gather additional information to explore as completely as possible the clinical significance of a variant. Clinicians can contact the patient to update his/her clinical features to determine if his/her phenotype has changed since the variant was reported. Phenotypic information can impact the interpretation of genomic variants. Clinicians also can search available literature and variant databases such as Pubmed, ClinVar, Human Gene Mutation Database (HGMD), and population databases to determine if the variant has been reported by other clinical laboratories or researchers.1  

ACMG Members and ACMG Trainees ($25)
Non-members ($75)

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Adult Genomics Case Conference November 2016

Adult Genomic Case Conference

Hosted by Baylor College of Medicine

Click Launch for details.

 

The Adult Genetics Special Interest Group of the American College of Medical Genetics & Genomics is offering a quarterly case conference series to discuss interesting, complex and/or challenging genetic disorders seen in adults.
A team of genetics providers, including clinical geneticists and genetic counselors from select host institutions presents 2-3 cases (as time permits) and leads a discussion on issues involved in diagnosing and managing adults with genetic disorders. Genetic tests and their results and interpretation is also reviewed along with issues regarding counseling for at risk family members.
The overarching goal of this educational activity is to create an awareness of genetic complexities observed in adult patients. It will also encourage the adult genetics community to work together towards diagnosis and management of the patient and learn from each other’s experiences.

Target audience

  1. Clinical geneticists; genetic counselors; pediatric, obstetric, and maternal-fetal specialists; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, genetically influenced health problems.
  2. Laboratory directors and technicians who conduct genetic testing, researchers involved in the discovery of genetic disorders and treatments and any healthcare and public health professionals who have an in interest medical and clinical genetics and genomics.

Please Click Here for More Course Information

Educational Credits Available
Amount of Credits: 1 (CME)
ACMG Members and ACMG Trainees free
ACMG Member with educational credits ($15)
Non-members ($30)
Non-members with educational credits ($55)

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ACMG Genomics Case Conference May 2017

Genomic Diagnosis for Children with Developmental Delay/Intellectual Disability

Hosted by HudsonAlpha Institute for Biotechnology

Click Launch for details.

 

During The ACMG Genomics Case Conferences, a team from select institutions will present and lead discussions on an intriguing, complex and/or difficult patient case in the area of genomics.  The primary focus of these case conferences will be on the adaptation of exome or genome sequencing technology in clinical care. 

Developmental delay, intellectual disability, and related conditions (DD/ID) have considerable medical, financial, and psychological impacts on affected individuals and their families. As part of the Clinical Sequencing Exploratory Research (CSER) Consortium, we are sequencing children with intellectual and developmental disabilities that are refractory to standard diagnostic testing. Cases from this cohort will be presented, including those resulting in changes to medical management. Gene discovery and secondary findings will also be briefly discussed. Our experiences strongly support the value of large-scale sequencing as both a potent first-choice diagnostic tool and means to continually advance clinical and research progress related to DD/ID, especially when data are shared freely and rapidly.

This activity is supported by an unrestricted educational grant from QIAGEN Bioinformatics and the Ingenuity Clinical Decision Support Platform.

Please Click Here for More Course Information

Educational Credits Available
Amount of Credits: 1 (CME)
ACMG Members and ACMG Trainees free
ACMG Member with educational credits ($15)
Non-members ($30)
Non-members with educational credits ($55)

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ACMG Genomics Case Conference January 2017

Ehlers-Danlos Syndrome, Hypermobility Type (EDS-HT), in Children: Differential Diagnosis and Recommendations for Management Hosted by the ACMG Professional Practice and Guidelines Committee

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During The ACMG Genomics Case Conferences, a team from select institutions will present and lead discussions on an intriguing, complex and/or difficult patient case in the area of genomics.  The primary focus of these case conferences will be on the adaptation of exome or genome sequencing technology in clinical care.

Session Description

During this Case Conference, the presenters will review case(s) that illustrate the difficulty of clinical diagnosis of EDS-HT and review case(s) that illustrate challenges in the management of EDS-HT. They will also address areas of clinical uncertainty and common misconceptions.

This activity is supported by an unrestricted educational grant from QIAGEN Bioinformatics and the Ingenuity Clinical Decision Support Platform.

Please Click Here for More Course Information

Educational Credits Available
Amount of Credits: 1 (CME)
ACMG Members and ACMG Trainees free
ACMG Member with educational credits ($15)
Non-members ($30)
Non-members with educational credits ($55)

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ACMG Genomics Case Conference February 2017

Beyond Exomes: Going the Extra Mile

Hosted by Greenwood Genetic Center

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During The ACMG Genomics Case Conferences, a team from select institutions will present and lead discussions on an intriguing, complex and/or difficult patient case in the area of genomics.  The primary focus of these case conferences will be on the adaptation of exome or genome sequencing technology in clinical care.

Session Description

During this session, a team from the Greenwood Genetic Center will review the utility of exome sequencing and describe cases where further studies can aid in the interpretation of exome findings.

This activity is supported by an unrestricted educational grant from QIAGEN Bioinformatics and the Ingenuity Clinical Decision Support Platform.

Please Click Here for More Course Information

Educational Credits Available
Amount of Credits: 1 (CME)
ACMG Members and ACMG Trainees free
ACMG Member with educational credits ($15)
Non-members ($30)
Non-members with educational credits ($55)

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ACMG Genomics Case Conference December 2016

Surprises from the NGS Lab: Reconciling Genotype with Phenotype in the Era of Genomic Medicine

Hosted by Children's Mercy Kansas City

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During The ACMG Genomics Case Conferences, a team from select institutions will present and lead discussions on an intriguing, complex and/or difficult patient case in the area of genomics.  The primary focus of these case conferences will be on the adaptation of exome or genome sequencing technology in clinical care.

Session Description

Three cases will be presented representing atypical or expanded phenotypes in which the molecular findings required extensive clinical correlation or other studies before the diagnosis was accepted. Counseling challenges in these situations will also be discussed.

This activity is supported by an unrestricted educational grant from QIAGEN Bioinformatics and the Ingenuity Clinical Decision Support Platform.

Please Click Here for More Course Information

Educational Credits Available
Amount of Credits: 1 (CME)
ACMG Members and ACMG Trainees free
ACMG Member with educational credits ($15)
Non-members ($30)
Non-members with educational credits ($55)

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ACMG Genomics Case Conferences October 2016

Three Years of WES Clinical Services at CCHMC
Hosted by Cincinnati Children’s Hospital Medical Center

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Overview

During The ACMG Genomics Case Conferences, a team from select institutions will present and lead discussions on an intriguing, complex and/or difficult patient case in the area of genomics.  The primary focus of these case conferences will be on the adaptation of exome or genome sequencing technology in clinical care.

Session Description

Whole exome sequencing (WES) technology has become a critical tool for establishing diagnoses, prognosis and developing personalized treatment for patients with genetic disorders.  The Molecular Genetics Laboratory at Cincinnati Children’s Hospital Medical Center (CCHMC) has offered WES as a clinical service since July of 2013. In this seminar, the CCHMC WES team, will share their three years of experience of clinical WES testing. They will present the clinical utility of the clinical WES test, share interesting cases, and lead the discussion on the challenges WES clinical testing and potential complimentary solutions.

This activity is supported by an unrestricted educational grant from QIAGEN Bioinformatics and the Ingenuity Clinical Decision Support Platform.

Please Click Here for More Course Information

Educational Credits Available
Amount of Credits: 1
ACMG Members and ACMG Trainees free
ACMG Member with educational credits ($15)
Non-members ($30)
Non-members with educational credits ($55)

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ACMG Genomics Case Conference April 2016

The Importance of the X in eXome

Hosted by the University of California, San Francisco

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During The ACMG Genomics Case Conferences, a team from select institutions will present and lead discussions on an intriguing, complex and/or difficult patient case in the area of genomics.  The primary focus of these case conferences will be on the adaptation of exome or genome sequencing technology in clinical care. There are four overall learning objectives that will be covered in each session.

Session Description

“Women have two X chromosomes, but men have an X and a Y.” The X chromosome has a critical role in genetics, but is often less considered than the autosomes. This session will use whole exome sequencing (WES) results to review the biology of the X-chromosome, including X-linked patterns of inheritance and X-inactivation. Presenters will provide examples of WES results that describe sequence variants in newly identified genes causing X-linked ID. They will also discuss the merits of WES versus panel testing for individuals with X-linked ID and for individuals with ID that has an unknown inheritance pattern.

This activity is supported by an unrestricted educational grant from QIAGEN Bioinformatics and the Ingenuity Clinical Decision Support Platform.

Please Click Here for More Course Information

Educational Credits Available
Amount of Credits: 1 (CME)
ACMG Members and ACMG Trainees free
ACMG Member with educational credits ($15)
Non-members ($30)
Non-members with educational credits ($55)

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ACMG Genomics Case Conference March 2016

Clinical Utility of Whole Exome Sequencing in a Patient with Recurrent Infections

Hosted by Partners Healthcare

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During The ACMG Genomics Case Conferences, a team from select institutions will present and lead discussions on an intriguing, complex and/or difficult patient case in the area of genomics.  The primary focus of these case conferences will be on the adaptation of exome or genome sequencing technology in clinical care. There are four overall learning objectives that will be covered in each session.

Session Description

During this session, the clinical utility of exome sequencing is highlighted through a case of suspected primary ciliary dyskinesia (PCD) with unexpected molecular findings. This case is an example of a scenario where molecular diagnosis drives the management and treatment of a patient. In reviewing this case, presenters will discuss exome filtration strategies, the evaluation and classification of exome-level variants in the context of reported patient phenotypes, and the benefits of physician involvement in the exome interpretation process.

Target audience

  1. Clinical geneticists; genetic counselors; pediatric, obstetric, and maternal-fetal specialists; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, genetically influenced health problems.
  2. Laboratory directors and technicians who conduct genetic testing, researchers involved in the discovery of genetic disorders and treatments and any healthcare and public health professionals who have an in interest medical and clinical genetics and genomics.

Click here to read the course information.

Educational Credits Available
Amount of Credits: 1 (CME)
ACMG Members and ACMG Trainees free
ACMG Member with educational credits ($15)
Non-members ($30)
Non-members with educational credits ($55)

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MOC Part II: Clinical Genetics and Genomics Literature Review (Issue 2017)

The Literature Review modules are comprised of 5-8 current and relevant literature articles in this specialty.  The topics encompass new clinical applications or methodologies, diagnostic methods and approaches, management and treatment of genetic conditions, and relevant practice guidelines.  

Diplomates are required to complete one Part II literature review module per 3 year timeframe of their ABMGG Continuing Certification MOC program.

New modules will be posted every two years. Each module will be available for a three-year period of time, so that up to two modules will be available at any given time.

Each literature review module consists of:

  • Optional pre-reading test - Diplomates can take a 25 question pre-test. The score of the pre-test is revealed to the test taker only and a passing score does not exempt the diplomate from taking the post-test.
  • Set of required reading -Full citations for five to eight specialty-specific articles will be listed.
  • Post-reading test - Consists of the same 25 multiple-choice questions as the pre-test. Responses are scored immediately. Diplomates who do not achieve a passing score of 80% may repeat the test until a passing score is attained.

Educational Credits

Date of Release: August 28th, 2017
Expiration Date: December 31, 2020
Estimate Time of Completion: 8 hours
Course must be completed by the expiration dates

Click here for more information about this course.

Registration and Fees

CME Credits and MOC Part II Certificate ($25)
MOC Part II Certificate Only ABMGG Diplomates ($0/no cost)

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MOC Part II: Clinical Biochemical Genetics Literature Review (Issue 2017)

The Literature Review modules are comprised of 5-8 current and relevant literature articles in this specialty.  The topics encompass new clinical applications or methodologies, diagnostic methods and approaches, management and treatment of genetic conditions, and relevant practice guidelines.  

Diplomates are required to complete one Part II literature review module per 3 year timeframe of their ABMGG Continuing Certification MOC program.

New modules will be posted every two years. Each module will be available for a three-year period of time, so that up to two modules will be available at any given time.

Each literature review module consists of:

  • Optional pre-reading test - Diplomates can take a 25 question pre-test. The score of the pre-test is revealed to the test taker only and a passing score does not exempt the diplomate from taking the post-test.
  • Set of required reading -Full citations for five to eight specialty-specific articles will be listed.
  • Post-reading test - Consists of the same 25 multiple-choice questions as the pre-test. Responses are scored immediately. Diplomates who do not achieve a passing score of 80% may repeat the test until a passing score is attained.

Educational Credits

Date of Release: August 28th, 2017
Expiration Date: December 31, 2020
Estimate Time of Completion: 8 hours
Course must be completed by the expiration dates

Click here for more information about this course.

Registration and Fees

CME Credits and MOC Part II Certificate ($25)
MOC Part II Certificate Only ABMGG Diplomates ($0/no cost)

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MOC Part II: Clinical Cytogenetics and Genomics Literature Review (Issue 2017)

The Literature Review modules are comprised of 5-8 current and relevant literature articles in this specialty.  The topics encompass new clinical applications or methodologies, diagnostic methods and approaches, management and treatment of genetic conditions, and relevant practice guidelines.  

Diplomates are required to complete one Part II literature review module per 3 year timeframe of their ABMGG Continuing Certification MOC program.

New modules will be posted every two years. Each module will be available for a three-year period of time, so that up to two modules will be available at any given time.

Each literature review module consists of:

  • Optional pre-reading test - Diplomates can take a 25 question pre-test. The score of the pre-test is revealed to the test taker only and a passing score does not exempt the diplomate from taking the post-test.
  • Set of required reading -Full citations for five to eight specialty-specific articles will be listed.
  • Post-reading test - Consists of the same 25 multiple-choice questions as the pre-test. Responses are scored immediately. Diplomates who do not achieve a passing score of 80% may repeat the test until a passing score is attained.

Educational Credits

Date of Release: August 28th, 2017
Expiration Date: December 31, 2020
Estimate Time of Completion: 8 hours
Course must be completed by the expiration dates

Click here for more information about this course.

Registration and Fees

CME Credits and MOC Part II Certificate ($25)
MOC Part II Certificate Only ABMGG Diplomates ($0/no cost)

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MOC Part II: Clinical Molecular Genetics and Genomics Literature Review (Issue 2017)

The Literature Review modules are comprised of 5-8 current and relevant literature articles in this specialty.  The topics encompass new clinical applications or methodologies, diagnostic methods and approaches, management and treatment of genetic conditions, and relevant practice guidelines.  

Diplomates are required to complete one Part II literature review module per 3 year timeframe of their ABMGG Continuing Certification MOC program.

New modules will be posted every two years. Each module will be available for a three-year period of time, so that up to two modules will be available at any given time.

Each literature review module consists of:

  • Optional pre-reading test - Diplomates can take a 25 question pre-test. The score of the pre-test is revealed to the test taker only and a passing score does not exempt the diplomate from taking the post-test.
  • Set of required reading -Full citations for five to eight specialty-specific articles will be listed.
  • Post-reading test - Consists of the same 25 multiple-choice questions as the pre-test. Responses are scored immediately. Diplomates who do not achieve a passing score of 80% may repeat the test until a passing score is attained.

Educational Credits

Date of Release: August 28th, 2017
Expiration Date: December 31, 2020
Estimate Time of Completion: 8 hours
Course must be completed by the expiration dates

Click here for more information about this course.

Registration and Fees

CME Credits and MOC Part II Certificate ($25)
MOC Part II Certificate Only ABMGG Diplomates ($0/no cost)

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MOC Part IV: Phenylketonuria Due to Phenylalanine Hydroxylase Deficiency

Phenylketonuria (PKU) is a disorder of amino acid metabolism in which the amino acid phenylalanine (phe) from protein cannot be metabolized to tyrosine.  Greater than 95% of cases are due to deficient activity of the liver enzyme, phenylalanine hydroxylase (PAH) resulting in an elevation in blood phe levels, which has a toxic effect on the developing central nervous system, and if untreated leads to intellectual disability.   In a minority of individuals (<5%) with elevated phe levels, the PAH enzyme dysfunction results from abnormal synthesis or recycling of the biopterin cofactor, leading to neurotransmitter deficiencies as well as the other symptoms of PKU.  All affected patients require quality medical services from a metabolic specialist, including diagnostic confirmation, clinical evaluation, laboratory testing, diet and disease management and genetic counseling.  

 

ACMG Members and ACMG Trainees ($25)
Non-members ($75)

 

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2017 Best of the Best from the Annual Meeting

  The 2017 Best of the Best from the Annual Clinical Genetics Meeting highlights four sessions. Click "Launch" for more information.

 

1.Cardinal signs of Six Selected Syndromes include presentations on De Barsy Syndrome, X-linked Hypophosphaemic Rickets, Ellis-van Creveld Syndrome, Bohring-Opitz, Wiedmann-Rautenstrauch Syndrome and Primrose Syndrome. Presentations include the "cardinal signs" (key manifestations which should trigger a clinical diagnosis), additional key components of the syndrome, cause (if known), natural history, and differential diagnosis.

2. Genetic Challenges and Controversies in Suspected Child Abuse Cases: Distinguishing Fracture Facts from Fracture Fiction focuses on the role that a clinical geneticist may play in the multidisciplinary evaluation of children with clinical findings concerning for child abuse. In considering child abuse from a clinical genetics perspective, presentations can be categorized into fractures, skin lesions, hemorrhage, growth disturbances, and concern for caregiver-fabricated illness (previously known as Munchausen syndrome by proxy). This session focuses on fractures and current diagnostic challenges and public misperceptions and controversies.

3. The Ticking Time Bomb - Adult-onset Presentations of Inborn Errors of Metabolism is geared towards genetic clinicians who evaluate adult patients but who are not necessarily specialized in managing inborn errors of metabolism. This session will begin with an overview of neuropsychiatric presentations of inborn errors, as neurological presentations are a common thread in the subsequent presentations. Subsequent talks will focus on disorders which may be screenable (the recent RUSP addition X-linked adrenoleukodystrophy), non-screenable (Niemann-Pick type C, mitochondrial disorders, the porphyrias), or both (late-presenting urea cycle disorders). The final presentation will focus on mitochondrial disease as an example of a highly diverse set of adult-onset clinical phenotypes.

4. Multi-Gene Testing for Inherited Cancer Predisposition: Opportunities and Challenges was a session on the advances in sequencing technology that have led to a paradigm shift for inherited cancer predisposition testing. The use of multi-gene panels enables simultaneous testing of multiple genes. They also may lead to testing of moderate and uncertain risk genes, identification of mutations in genes discordant with the clinical phenotype, as well as a much higher rate of variants of uncertain significance (VUS) as more genes are tested. Speakers will discuss risk assessment and management implications for many of the newer genes on these multigene panels, as well as the handling of VUS and uninformative results identified, expansion of classic clinical phenotypes, and the incorporation of tumor sequencing to identify potential germline risk and guide testing and management. 

 Target audience

Geneticists, genetic counselors, other healthcare providers, fellows, students

Educational Credits

Course Information with Educational Credit Please Click Here 

Date of Release:  March 22, 2017
Expiration Date: March 22, 2020
Estimate Time of Completion: 8 hours
Credit Offered: CME/NSGC/P.A.C.E.

Course Information without Educational Credit Please Click Here

Registration and Fees

Educational Credits

Members Fellows/ Trainees/Students $85
Members $110
Non-members $160
Additional fee (~$25) applies for NSGC credit that is billed by NSGC


Course only – No educational credits

All ACMG Members Fellows/ Trainees/Students $50
Non-members $75

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48th Annual March of Dimes Clinical Genetics Conference

Held during the 2017 ACMG Annual Clinical Genetics Meeting in Phoenix, Arizona.  Click “Launch” for more information.
EDUCATIONAL CREDITS ARE NOT AVAILABLE

 

COURSE DESCRIPTION:

The Undiagnosed Diseases Network (UDN) is a recently constituted multi-institution collaborative network designed to help patients who have rare, previously undiagnosed diseases. In addition to facilitating diagnosis and management for patients and their families, the network has a broader goal to create a new, more effective paradigm for rare disease diagnosis and research. Some of the important objectives of the network are to expand the breadth of expert collaborators, to determine best practices for translating this work into geographically diverse mainstream clinical centers, and to share resulting data and approaches throughout the scientific community. This course will describe lessons learned in, a) setting up a collaborative network which has clinical as well as research functions, b) evaluation of pediatric patients in the network, c) evaluation of adult patients in the network, d) patient engagement in the network activities and e) organizing clinical laboratory cores to optimize molecular diagnosis.
Rare and yet-to-be-described disorders are a difficult problem for patients, their families and their physicians. The NIH Office of Rare Diseases Research notes that about 6% of patients seeking their assistance have an undiagnosed disease. For those who were ultimately diagnosed, as many as 15% had persistent symptoms without diagnosis for at least 5 years, a difficult and costly delay for patient, family, and physicians who struggle to identify and treat these disorders.
The various network components will work together to advance laboratory and clinical research by enhancing the coordination and collaboration between the bedside and bench across multiple centers by sharing broadly resulting data and approaches widely throughout the scientific community. The large number of unique patients, the breadth of the expertise in the network, and the highly collaborative nature of the UDN represents a signal opportunity to accelerate discovery about health and disease at scale, while challenging the traditional divide between clinical and research activities.
Attendees will benefit from learning about the logistics underpinning of the network and how to utilize the many tools and resources developed by the network in their own practice

 TARGET AUDIENCE:

All healthcare professionals interested in the diagnosis, management, treatment and prevention of genetic conditions and increasing their understanding of the genetic basis of common, chronic health problems affecting both children and adults will find the programming applicable to their practice. These select sessions from the ACMG Annual Meeting are targeted for the following professionals:
• Medical and clinical geneticists
• Physicians of all specialties with an interest in genetics, genomics and the genetic basis of disease
• Genetic counselors
• Laboratory geneticists, directors, technicians and technologists
• Researchers
• Pathologists
• Educators
• Nurses
• Dietitians
• Physician assistants
• Biotechnology and pharmaceutical development professionals
• Fellows, Trainees and Students
• Public health professionals
• Genetic/consumer advocates
• Others with an interest in the science and art of medical genetics and genomics

Course information without Educational Credit Please Click Here

Registration and Fees

Course only – No educational credits
ACMG Members and ACMG Trainees: ($20)
Non-members ($30)

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Adult Genetics Diagnostic Dilemmas (Unknowns and Rare Knowns)

Held during the 2017 ACMG Annual Clinical Genetics Meeting in Phoenix, Arizona.  Click “Launch” for more information.
EDUCATIONAL CREDITS ARE NOT AVAILABLE

 

COURSE DESCRIPTION:

This session, held for the first time at the 2016 ACMG meeting on 03/10/16 and led by Dr. Fuki M. Hisama and Dr. Shweta Dhar was well attended and received. It provides attendees with an opportunity to bring cases to the attention of a panel of experts and an audience of geneticists for discussion of differential diagnosis, treatment and counseling options in adult patients with genetic disorders.

TARGET AUDIENCE:

All healthcare professionals interested in the diagnosis, management, treatment and prevention of genetic conditions and increasing their understanding of the genetic basis of common, chronic health problems affecting both children and adults will find the programming applicable to their practice. These select sessions from the ACMG Annual Meeting are targeted for the following professionals:
• Medical and clinical geneticists
• Physicians of all specialties with an interest in genetics, genomics and the genetic basis of disease
• Genetic counselors
• Laboratory geneticists, directors, technicians and technologists
• Researchers
• Pathologists
• Educators
• Nurses
• Dietitians
• Physician assistants
• Biotechnology and pharmaceutical development professionals
• Fellows, Trainees and Students
• Public health professionals
• Genetic/consumer advocates
• Others with an interest in the science and art of medical genetics and genomics

Course Information without Educational Credit Please Click Here

Registration and Fees

Course only – No educational credits
ACMG Members and ACMG Trainees: ($20)
Non-members ($30)

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Bedside to Bench and Back: Translational Medicine in Epilepsy Genetics

Held during the 2017 ACMG Annual Clinical Genetics Meeting in Phoenix, Arizona.  Click “Launch” for more information.
EDUCATIONAL CREDITS ARE NOT AVAILABLE

 

COURSE DESCRIPTION:

The epilepsies are among the most common neurological conditions, affecting approximately 1% of the general population and are most common in childhood, affecting approximately 70 out of 100,000 children under the age of two years. Seizures are commonly encountered in the genetics clinic, as they are a common comorbidity of many known Mendelian disorders and many epilepsy syndromes have a strong genetic component. Recent data show that de novo alterations play an important role particularly in the early-onset epileptic encephalopathies.
Treatment for the epilepsies may be directed by seizure type, and many patients try multiple medications until they find one, or a combination of several, that help control seizures. In one of out every three people with epilepsy, seizures remain uncontrolled despite multiple medications. In some patients, the identification of the underlying molecular etiology can have therapeutic implications, leading to more targeted therapies. Recent technological advances in gene sequencing have led to a rapid increase in genes leading to epilepsies, particularly severe epilepsies of childhood. However, despite the success in gene discovery, the ability to provide targeted therapies has not paralleled this influx. The field of epilepsy genetics has now shifted efforts from focusing solely on gene discovery to investigating the mechanisms of seizure susceptibility and identifying targeted therapies in the laboratory that can be translated back to the clinic. In this session, we will present a translational approach to the diagnosis, providing examples of how gene discovery in the epilepsies has led to a better understanding of the underlying mechanisms, forming a basis for precision medicine.
During this session, we will have four speakers covering topics of translational epilepsy genetics. The first speaker will provide a comprehensive clinical overview of the genetic epilepsy syndromes, including important features relevant to the pediatric genetics clinic. The second speaker will discuss current available testing options for patients with epilepsy, including next generation panel testing and whole exome sequencing, the clinical utility and diagnostic yield, and challenges in variant interpretation in the context of the epilepsies. The third speaker will discuss current translational studies and clinical trials harnessing genetic diagnoses to forge a path for precision medicine. This talk will cover many of the ongoing clinical trials for genetic epilepsies and outline the overall framework for future drug development. The fourth speaker will discuss functional analysis of identified genetic variants and screening of potential antiepileptic medications in zebrafish models of genetic epilepsies. This talk aims to present the spectrum of screening model systems for genetic epilepsies and will demonstrate how pathogenic variants identified in patients can be used for compound screening, allowing for rapid discovery of new compounds targeted at specific genetic epilepsies.

TARGET AUDIENCE:

All healthcare professionals interested in the diagnosis, management, treatment and prevention of genetic conditions and increasing their understanding of the genetic basis of common, chronic health problems affecting both children and adults will find the programming applicable to their practice. These select sessions from the ACMG Annual Meeting are targeted for the following professionals:

• Medical and clinical geneticists
• Physicians of all specialties with an interest in genetics, genomics and the genetic basis of disease
• Genetic counselors
• Laboratory geneticists, directors, technicians and technologists
• Researchers
• Pathologists
• Educators
• Nurses
• Dietitians
• Physician assistants
• Biotechnology and pharmaceutical development professionals
• Fellows, Trainees and Students
• Public health professionals
• Genetic/consumer advocates
• Others with an interest in the science and art of medical genetics and genomics

Course Information without Educational Credit Please Click Here

Registration and Fees

Course only – No educational credits
ACMG Members and ACMG Trainees: ($20)
Non-members ($30)

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Cardinal Signs of Six Selected Syndromes

Held during the 2017 ACMG Annual Clinical Genetics Meeting in Phoenix, Arizona.  Click “Launch” for more information.
EDUCATIONAL CREDITS ARE NOT AVAILABLE

 

COURSE DESCRIPTION:

This series will include succinct descriptions of six syndromes. Each description will include the "cardinal signs" (key manifestations which should trigger a clinical diagnosis), additional key components of the syndrome, cause (if known), natural history, and differential diagnosis. At the end of the session, attendees should be more knowledgeable about each of the discussed entities.

TARGET AUDIENCE:


All healthcare professionals interested in the diagnosis, management, treatment and prevention of genetic conditions and increasing their understanding of the genetic basis of common, chronic health problems affecting both children and adults will find the programming applicable to their practice. These select sessions from the ACMG Annual Meeting are targeted for the following professionals:
• Medical and clinical geneticists
• Physicians of all specialties with an interest in genetics, genomics and the genetic basis of disease
• Genetic counselors
• Laboratory geneticists, directors, technicians and technologists
• Researchers
• Pathologists
• Educators
• Nurses
• Dietitians
• Physician assistants
• Biotechnology and pharmaceutical development professionals
• Fellows, Trainees and Students
• Public health professionals
• Genetic/consumer advocates
• Others with an interest in the science and art of medical genetics and genomics

Course Information without Educational Credit Please  Click Here

Registration and Fees

Course only – No educational credits
ACMG Members and ACMG Trainees: ($20)
Non-members ($30)

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Closing Plenary Session: Hot Topics in Genetics: CRISPR, Synthetic Genomics and Zika Virus

Held during the 2017 ACMG Annual Clinical Genetics Meeting in Phoenix, Arizona.  Click “Launch” for more information.
NO EDUCATIONAL CREDITS FOR THIS COURSE

 

COURSE DESCRIPTION:

Human genetics is a rapidly developing field with many technological advances. Most recently this has included gene editing and synthetic genomes. In this session, we will discuss current hot topics in Medical genetic. Dr. David Scott from Dr. Feng Zhang’s laboratory will discuss the CRISPR/Case 9 gene editing system and how it can be used for therapeutics in genetic disorders. Dr. Aravinda Chakravarti will discuss the Genome Project Write and Human Genome Project Write. This discussion will include the technologies that make this possible as well as an introduction to the ethical dilemmas. Dr. Sonja Rasmussen from the CDC will provide an update on the Zika Virus and its role as a teratogen.

TARGET AUDIENCE:

All healthcare professionals interested in the diagnosis, management, treatment and prevention of genetic conditions and increasing their understanding of the genetic basis of common, chronic health problems affecting both children and adults will find the programming applicable to their practice. These select sessions from the ACMG Annual Meeting are targeted for the following professionals:
• Medical and clinical geneticists
• Physicians of all specialties with an interest in genetics, genomics and the genetic basis of disease
• Genetic counselors
• Laboratory geneticists, directors, technicians and technologists
• Researchers
• Pathologists
• Educators
• Nurses
• Dietitians
• Physician assistants
• Biotechnology and pharmaceutical development professionals
• Fellows, Trainees and Students
• Public health professionals
• Genetic/consumer advocates
• Others with an interest in the science and art of medical genetics and genomics

Course Information without Educational Credit Please Click Here

Registration and Fees

Course only – No educational credits
ACMG Members and ACMG Trainees: ($20)
Non-members ($30)

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Developing Care Models for Patients with Secondary Genomic Findings

Held during the 2017 Genetics and Genomics Review Course in Tampa, Florida. Click 'Launch" for more information.
EDUCATIONAL CREDITS ARE NOT AVAILABLE

 

COURSE DESCRIPTION:

Routine pursuit of incidental and secondary genomic findings within DNA sequences has prompted a need for the development of better structured clinical management approaches of these results. Screening of DNA sequence in search of these findings constitutes a precursor to an eventual use of genomics for population screening; therefore the WHO criteria for screening that calls for the availability of “facilities for diagnosis and treatment” is relevant to these efforts. The clinical approach to patients ascertained in this manner will initially require extrapolation from patient data ascertained “traditionally”; however sites taking on the management of this new set of patients need to acquire data specific to this ascertainment approach so that management can be refined over time. This session will review four separate efforts to approach patients with secondary genomic findings. The panel will discuss clinical management issues including institutional support for infrastructure, as well as efforts to develop standardized approaches to clinical follow-up care.

TARGET AUDIENCE:

All healthcare professionals interested in the diagnosis, management, treatment and prevention of genetic conditions and increasing their understanding of the genetic basis of common, chronic health problems affecting both children and adults will find the programming applicable to their practice. These select sessions from the ACMG Annual Meeting are targeted for the following professionals:
• Medical and clinical geneticists
• Physicians of all specialties with an interest in genetics, genomics and the genetic basis of disease
• Genetic counselors
• Laboratory geneticists, directors, technicians and technologists
• Researchers
• Pathologists
• Educators
• Nurses
• Dietitians
• Physician assistants
• Biotechnology and pharmaceutical development professionals
• Fellows, Trainees and Students
• Public health professionals
• Genetic/consumer advocates
• Others with an interest in the science and art of medical genetics and genomics

Course Information without Educational Credit Please Click Here

Registration and Fees

Course only – No educational credits
ACMG Members and ACMG Trainees: ($20)
Non-members ($30)

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Dysmorphology in the Era of Next-Gen Sequencing

Held during the 2017 ACMG Annual Clinical Genetics Meeting in Phoenix, Arizona.  Click “Launch” for more information.
EDUCATIONAL CREDITS ARE NOT AVAILABLE

 

COURSE DESCRIPTION:

The role of a clinical dysmorphologist is evolving alongside rapid advancements in molecular technology. We aim to discuss the manner in which the role of the dysmorphologist is changing, how a dysmorphologic assessment adds value to molecular reports, new technological tools that can aid the dysmorphologic exam, and explore how to train the new generation of dysmorphologists.

TARGET AUDIENCE:
All healthcare professionals interested in the diagnosis, management, treatment and prevention of genetic conditions and increasing their understanding of the genetic basis of common, chronic health problems affecting both children and adults will find the programming applicable to their practice. These select sessions from the ACMG Annual Meeting are targeted for the following professionals:
• Medical and clinical geneticists
• Physicians of all specialties with an interest in genetics, genomics and the genetic basis of disease
• Genetic counselors
• Laboratory geneticists, directors, technicians and technologists
• Researchers
• Pathologists
• Educators
• Nurses
• Dietitians
• Physician assistants
• Biotechnology and pharmaceutical development professionals
• Fellows, Trainees and Students
• Public health professionals
• Genetic/consumer advocates
• Others with an interest in the science and art of medical genetics and genomics

Course Information without Educational Credit Please Click Here

Registration and Fees

Course only – No educational credits
ACMG Members and ACMG Trainees: ($20)
Non-members ($30)

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Enriching Racial and Ethnic Diversity to Improve Genomic Medicine

Held during the 2017 ACMG Annual Clinical Genetics Meeting in Phoenix, Arizona.  Click “Launch” for more information.
EDUCATIONAL CREDITS ARE NOT AVAILABLE

 

COURSE DESCRIPTION:

The association of race/ethnicity with socioeconomic status, disease prevalence, and clinical outcomes is well recognized. However, the increasing implementation of genomic sequencing in clinical practice and its reliance on common resources and standardized approaches highlights the need for inclusion of and targeted research in ancestrally diverse populations. Opportunities for genomic research in diverse populations tend to occur in a complex context related to socioeconomic status and access to care, in addition to cultural differences related to genomics. Large clinical sequencing efforts in the United States have tended to draw disproportionately from populations of European descent, even though many Mendelian and complex diseases disproportionately impact minority populations. Comprehensive and accurate variant interpretation depends on population-specific allele frequency, which is incompletely catalogued. Successful inclusion in research studies depends not only on successful recruitment but also retention of diverse patients. Numerous factors may impact these efforts including the processes and language utilized for informed consent, results disclosure, and patient-provider communication, as well as culturally based perspectives regarding the utility of genomic results. Consideration of these factors can highlight approaches that may work across populations, as well as those that may need to be tailored to specific populations or cultures. As a matter of scientific value and equity, building a population-inclusive knowledgebase on which genomic medicine can be based is essential to the progress of genomic medicine for clinical research and patient care.
This session will offer recent examples of how inclusion of ancestrally diverse patients and populations in clinical research illustrate the need to improve such efforts, and will contribute to precision medicine for all. We propose six talks spanning a range from genetic epidemiology to clinical genomics to ethical, legal and social implications drawing from consortia such as the Population Architecture using Genomics and Epidemiology (PAGE), Implementing GeNomics In PracTicE (IGNITE), ClinGen, and Clinical Sequencing Exploratory Research (CSER) programs.

TARGET AUDIENCE:
All healthcare professionals interested in the diagnosis, management, treatment and prevention of genetic conditions and increasing their understanding of the genetic basis of common, chronic health problems affecting both children and adults will find the programming applicable to their practice. These select sessions from the ACMG Annual Meeting are targeted for the following professionals:
• Medical and clinical geneticists
• Physicians of all specialties with an interest in genetics, genomics and the genetic basis of disease
• Genetic counselors
• Laboratory geneticists, directors, technicians and technologists
• Researchers
• Pathologists
• Educators
• Nurses
• Dietitians
• Physician assistants
• Biotechnology and pharmaceutical development professionals
• Fellows, Trainees and Students
• Public health professionals
• Genetic/consumer advocates
• Others with an interest in the science and art of medical genetics and genomics

 Course Information without Educational Credit Please Click Here

 

Registration and Fees

Course only – No educational credits
ACMG Members and ACMG Trainees: ($20)
Non-members ($30)

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Genetic Challenges and Controversies in Suspected Child Abuse Cases: Distinguishing Fracture Facts from Fracture Friction

Held during the 2017 ACMG Annual Clinical Genetics Meeting in Phoenix, Arizona.  Click “Launch” for more information.

EDUCATIONAL CREDITS ARE NOT AVAILABLE

 

 

COURSE DESCRIPTION:

The clinical geneticist can be called upon to play a role in the multidisciplinary evaluation of children with clinical findings concerning for child abuse. In considering child abuse from a clinical genetics perspective, presentations can be categorized into fractures, skin lesions, hemorrhage, growth disturbances, and concern for caregiver-fabricated illness (previously known as Munchausen syndrome by proxy).This session focuses on fractures and current diagnostic challenges and public misperceptions and controversies. The first diagnostic challenge is that in suspected child abuse cases, the clinician must decide whether and when to pursue testing for osteogenesis imperfecta. A second diagnostic challenge is that more rare disorders (beyond osteogenesis imperfecta) that predispose to fracture, often easily diagnosable by clinical history and radiographs, could be missed due to lack of training. An area of current public controversy is whether non-mobile infants with multiple unexplained fractures could be diagnosed with Ehlers-Danlos syndrome as a feasible explanation. For example, the media has featured sympathetic stories of parents who claim they are victims of false child abuse allegations (after charges have been dismissed due to medical experts who gave testimony for the defense). This session addresses these challenges by discussing current clinical, radiological, and molecular approaches for diagnosing osteogenesis imperfecta and other bone fragility disorders that predispose to fractures. Next, this session considers the evidence in the literature (or lack thereof) suggesting that Ehlers-Danlos syndrome predisposes to bone fragility in infants. Finally, this session considers practice changes in order to both diagnose and reduce the likelihood of abuse in children with disabilities, a particularly vulnerable population. The goal is to empower clinical geneticists to utilize a unified and up-to-date approach to help distinguish the rare causes from the real cases of child abuse, and those critical distinctions and correct diagnoses may be life-saving for some infants and children.

TARGET AUDIENCE:

All healthcare professionals interested in the diagnosis, management, treatment and prevention of genetic conditions and increasing their understanding of the genetic basis of common, chronic health problems affecting both children and adults will find the programming applicable to their practice. These select sessions from the ACMG Annual Meeting are targeted for the following professionals:
• Medical and clinical geneticists
• Physicians of all specialties with an interest in genetics, genomics and the genetic basis of disease
• Genetic counselors
• Laboratory geneticists, directors, technicians and technologists
• Researchers
• Pathologists
• Educators
• Nurses
• Dietitians
• Physician assistants
• Biotechnology and pharmaceutical development professionals
• Fellows, Trainees and Students
• Public health professionals
• Genetic/consumer advocates
• Others with an interest in the science and art of medical genetics and genomics

Course Information without Educational Credit Please Click Here

 

Registration and Fees

Course only – No educational credits
ACMG Members and ACMG Trainees: ($20)
Non-members ($30)

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Hot Topics in Perinatal Genetics

Held during the 2017 ACMG Annual Clinical Genetics Meeting in Phoenix, Arizona.  Click “Launch” for more information.
EDUCATIONAL CREDITS ARE NOT AVAILABLE

 

 

COURSE DESCRIPTION:

Perinatal genetics, like other subdisciplines of genetics, is advancing at a rapid pace. We are continuously challenged with evolving diagnostic tools, and new differential diagnoses. This session will provide updates regarding several important topics in perinatal genetics. Cell free DNA screening (cfDNA, NIPS) has evolved from screening for trisomy 21 to the non-invasive whole genome. Most recent updates and current guidelines for utilization of cfDNA in the clinical setting will be reviewed. The epidemiology of Zika virus, and its role in congenital microcephaly will be discussed, considering the “new” threat of Zika infection. Fetal therapy is of burgeoning interest in the prenatal practice. Current prenatal therapies, including fetoscopic and open procedures, will be reviewed. Utilization of rapid genome sequencing in the perinatal realm will be summarized. Finally, this session will also provide an overview of recurrent pregnancy loss.

TARGET AUDIENCE:
All healthcare professionals interested in the diagnosis, management, treatment and prevention of genetic conditions and increasing their understanding of the genetic basis of common, chronic health problems affecting both children and adults will find the programming applicable to their practice. The ACMG Annual Meeting attendees include:
• Medical and clinical geneticists
• Physicians of all specialties with an interest in genetics, genomics and the genetic basis of disease
• Genetic counselors
• Laboratory geneticists, directors, technicians and technologists
• Researchers
• Pathologists
• Educators
• Nurses
• Dietitians
• Physician assistants
• Biotechnology and pharmaceutical development professionals
• Fellows, Trainees and Students
• Public health professionals
• Genetic/consumer advocates
• Others with an interest in the science and art of medical genetics and genomics

Course Information without Educational Credit Please Click Here

 

Registration and Fees

Course only – No educational credits
ACMG Members and ACMG Trainees: ($20)
Non-members ($30)

 

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Molecular Cytogenics: The Next Generation in Balanced Rearrangement Detection

Held during the 2017 ACMG Annual Clinical Genetics Meeting in Phoenix, Arizona.  Click “Launch” for more information.
EDUCATIONAL CREDITS ARE NOT AVAILABLE

 

 

COURSE DESCRIPTION:

Balanced genomic rearrangements have classically been detected in clinical diagnostic laboratories at the DNA level using karyotyping or fluorescence in situ hybridization (FISH) and at the RNA level through reverse-transcriptase PCR (RT-PCR) or real-time PCR (qPCR). High-complexity molecular technologies are evolving to complement and/or supplant the current methods in both the constitutional and neoplastic setting. Speakers will describe technical aspects, pros and cons, and applications for the following: whole- genome sequencing, fusion-targeted RNAseq, and microfluidics-based linked-read sequencing.

TARGET AUDIENCE:

All healthcare professionals interested in the diagnosis, management, treatment and prevention of genetic conditions and increasing their understanding of the genetic basis of common, chronic health problems affecting both children and adults will find the programming applicable to their practice. These select sessions from the ACMG Annual Meeting are targeted for the following professionals:
• Medical and clinical geneticists
• Physicians of all specialties with an interest in genetics, genomics and the genetic basis of disease
• Genetic counselors
• Laboratory geneticists, directors, technicians and technologists
• Researchers
• Pathologists
• Educators
• Nurses
• Dietitians
• Physician assistants
• Biotechnology and pharmaceutical development professionals
• Fellows, Trainees and Students
• Public health professionals
• Genetic/consumer advocates
• Others with an interest in the science and art of medical genetics and genomics

Course Information without Educational Credit Please Click Here

 

Registration and Fees

Course only – No educational credits
ACMG Members and ACMG Trainees: ($20)
Non-members ($30)

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Multi-Gene Testing for Inherited Cancer Predisposition: Opportunities and Challenges

Held during the 2017 ACMG Annual Clinical Genetics Meeting in Phoenix, Arizona.  Click “Launch” for more information.
EDUCATIONAL CREDITS ARE NOT AVAILABLE

 


COURSE DESCRIPTION:

Advances in sequencing technology with plummeting costs have led to a paradigm shift for inherited cancer predisposition testing, with increasing use of multi-gene panels. While panels enable simultaneous testing of multiple genes, they also may lead to testing of moderate and uncertain risk genes, identification of mutations in genes discordant with the clinical phenotype, as well as a much higher rate of variants of uncertain significance (VUS) as more genes are tested. Speakers will discuss risk assessment and management implications for many of the newer genes on these multigene panels, as well as the handling of VUS and uninformative results identified, expansion of classic clinical phenotypes, and the incorporation of tumor sequencing to identify potential germline risk and guide testing and management. Additionally, given the changes in approach to testing with the availability of next-generation sequencing technologies, the cost-effectiveness of this approach will be discussed in the context of inherited cancer risk.

TARGET AUDIENCE:

All healthcare professionals interested in the diagnosis, management, treatment and prevention of genetic conditions and increasing their understanding of the genetic basis of common, chronic health problems affecting both children and adults will find the programming applicable to their practice. These select sessions from the ACMG Annual Meeting are targeted for the following professionals:
• Medical and clinical geneticists
• Physicians of all specialties with an interest in genetics, genomics and the genetic basis of disease
• Genetic counselors
• Laboratory geneticists, directors, technicians and technologists
• Researchers
• Pathologists
• Educators
• Nurses
• Dietitians
• Physician assistants
• Biotechnology and pharmaceutical development professionals
• Fellows, Trainees and Students
• Public health professionals
• Genetic/consumer advocates
• Others with an interest in the science and art of medical genetics and genomics

Course Information without Educational Credit Please Click Here

Registration and Fees

Course only – No educational credits
ACMG Members and ACMG Trainees: ($20)
Non-members ($30)

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NAMA 2.0 at the 2017 ACMG Annual Meeting

Held during the 2017 ACMG Annual Clinical Genetics Meeting in Phoenix, Arizona.  Click “Launch” for more information.
EDUCATIONAL CREDITS ARE NOT AVAILABLE

 


COURSE DESCRIPTION:

By popular demand, NAMA at the SIMD is back again this year. The North American Metabolic Academy is a philanthropically funded intensive training program for Medical Genetics residents. In this session, faculty from NAMA will present a selection of tropics from the NAMA curriculum that will allow ACMG attendees to take advantage of this unique program to update geneticists on physiology and clinical management of disorders of carbohydrate and fatty acid metabolism. The session will begin with a basic presentation on hypoglycemia and gluconeogenesis from world-renowned biochemical geneticist Dr. Jean-Marie Saudubray, and will use the NAMA curriculum to provide talks on glycogen storage disorders and fatty acid oxidation disorders. It will end with an interactive session including audience participation on applying these principles to the diagnosis and management of patients with inborn errors of metabolism.


TARGET AUDIANCE:

All healthcare professionals interested in the diagnosis, management, treatment and prevention of genetic conditions and increasing their understanding of the genetic basis of common, chronic health problems affecting both children and adults will find the programming applicable to their practice. These select sessions from the ACMG Annual Meeting are targeted for the following professionals:
• Medical and clinical geneticists
• Physicians of all specialties with an interest in genetics, genomics and the genetic basis of disease
• Genetic counselors
• Laboratory geneticists, directors, technicians and technologists
• Researchers
• Pathologists
• Educators
• Nurses
• Dietitians
• Physician assistants
• Biotechnology and pharmaceutical development professionals
• Fellows, Trainees and Students
• Public health professionals
• Genetic/consumer advocates
• Others with an interest in the science and art of medical genetics and genomics

Course Information without Educational Credit Please Click Here

 

Registration and Fees

Course only – No educational credits
ACMG Members and ACMG Trainees: ($40)
Non-members ($60)

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Prenatal Diagnostic Dilemmas

Held during the 2017 ACMG Annual Clinical Genetics Meeting in Phoenix, Arizona.  Click “Launch” for more information.
EDUCATIONAL CREDITS ARE NOT AVAILABLE

 

Course Description

This session to be presented in the Diagnostic Dilemma format was created in an effort to increase the quantity and quality of Prenatal/Perinatal genetic educational opportunities. The session will be an interactive session which will allow genetics professionals to present cases of rare knowns and unknowns. These will include cases that are rare knowns of prenatally diagnosed malformations, genetic syndromes, or potential genetic syndromes and include ultrasound findings, management, and if available, postnatal findings. The rare knowns presentation may be of assistance to others in practice. The session will also provide an opportunity for individuals to present cases of unknowns for assistance with management suggestions or potential diagnoses. It will also be a time to illustrate the need for a multidisciplinary approach and communication for optimal care of patients and families. Additionally, this provides a forum to discuss cases of maternal genetic disorders and the complications/management of pregnancy and potential implications to offspring.

 Target Audience

All healthcare professionals interested in the diagnosis, management, treatment and prevention of genetic conditions and increasing their understanding of the genetic basis of common, chronic health problems affecting both children and adults will find the programming applicable to their practice. These select sessions from the ACMG Annual Meeting are targeted for the following professionals:
• Medical and clinical geneticists
• Physicians of all specialties with an interest in genetics, genomics and the genetic basis of disease
• Genetic counselors
• Laboratory geneticists, directors, technicians and technologists
• Researchers
• Pathologists
• Educators
• Nurses
• Dietitians
• Physician assistants
• Biotechnology and pharmaceutical development professionals
• Fellows, Trainees and Students
• Public health professionals
• Genetic/consumer advocates
• Others with an interest in the science and art of medical genetics and genomics

Course Information without Educational Credit Please Click Here

 

Registration and Fees

Course only – No educational credits
ACMG Members and ACMG Trainees: ($20)
Non-members ($30)

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The Ticking Time Bomb - Adult-onset Presentations of Inborn Errors of Metabolism

Held during the 2017 ACMG Annual Clinical Genetics Meeting in Phoenix, Arizona.  Click “Launch” for more information.

EDUCATIONAL CREDITS ARE NOT AVAILABLE

 

 

COURSE DESCRIPTION:

This session is geared towards genetic clinicians who evaluate adult patients but who are not necessarily specialized in managing inborn errors of metabolism. In the era of expanded newborn screening, there is an increasing appreciation of the clinical spectrum of pediatric manifestations of inborn errors when ascertainment is not based on clinical symptoms. With surveillance and appropriate interventions, it is anticipated that the clinical outcomes patients in the screened cohort can be improved. With the exception of a handful of disorders, the adult population has not had the benefit of population-based screening, setting the stage for late presentations of screenable as well as non-screenable disorders. It is important for clinicians to recognize the signs and symptoms of adult-onset forms of inborn errors of metabolism, especially those for which therapeutic options are available. This session will begin with an overview of neuropsychiatric presentations of inborn errors, as neurological presentations are a common thread in the subsequent presentations. Subsequent talks will focus on disorders which may be screenable (the recent RUSP addition X-linked adrenoleukodystrophy), non-screenable (Niemann-Pick type C, mitochondrial disorders, the porphyrias), or both (late-presenting urea cycle disorders). The final presentation will focus on mitochondrial disease as an example of a highly diverse set of adult-onset clinical phenotypes.

TARGET AUDIENCE:

All healthcare professionals interested in the diagnosis, management, treatment and prevention of genetic conditions and increasing their understanding of the genetic basis of common, chronic health problems affecting both children and adults will find the programming applicable to their practice. These select sessions from the ACMG Annual Meeting are targeted for the following professionals:
• Medical and clinical geneticists
• Physicians of all specialties with an interest in genetics, genomics and the genetic basis of disease
• Genetic counselors
• Laboratory geneticists, directors, technicians and technologists
• Researchers
• Pathologists
• Educators
• Nurses
• Dietitians
• Physician assistants
• Biotechnology and pharmaceutical development professionals
• Fellows, Trainees and Students
• Public health professionals
• Genetic/consumer advocates
• Others with an interest in the science and art of medical genetics and genomics

 

Course Information without Educational Credit Please Click Here

 

Registration and Fees

Course only – No educational credits
ACMG Members and ACMG Trainees: ($20)
Non-members ($30)

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Presentation of the 2017 ACMG Foundation and March of Dimes Awards and Presidential Plenary Session

Held during the 2017 ACMG Annual Clinical Genetics Meeting in Phoenix, Arizona.  Click “Launch” for more information.
EDUCATIONAL CREDITS ARE NOT AVAILABLE

 

COURSE DESCRIPTION:

2017 ACMG Foundation and March of Dimes Awards and Presidential Plenary Session

TARGET AUDIENCE:

All healthcare professionals interested in the diagnosis, management, treatment and prevention of genetic conditions and increasing their understanding of the genetic basis of common, chronic health problems affecting both children and adults will find the programming applicable to their practice. These select sessions from the ACMG Annual Meeting are targeted for the following professionals:
• Medical and clinical geneticists
• Physicians of all specialties with an interest in genetics, genomics and the genetic basis of disease
• Genetic counselors
• Laboratory geneticists, directors, technicians and technologists
• Researchers
• Pathologists
• Educators
• Nurses
• Dietitians
• Physician assistants
• Biotechnology and pharmaceutical development professionals
• Fellows, Trainees and Students
• Public health professionals
• Genetic/consumer advocates
• Others with an interest in the science and art of medical genetics and genomics

 

Course Information without Educational Credit Please Click Here

 

Registration and Fees

Course only – No educational credits
ACMG Members and ACMG Trainees: ($20)
Non-members ($30)

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Toward Next-Generation Newborn Screening: Myth and Reality - Rodney Howell Symposium

Held during the 2017 ACMG Annual Clinical Genetics Meeting in Phoenix, Arizona.  Click “Launch” for more information.
EDUCATIONAL CREDITS ARE NOT AVAILABLE

 

 

COURSE DESCRIPTION:

Recent advances in genomic technologies have brought tremendous success in the realm of clinical medicine, primarily as powerful diagnostic tools. The application of these same technologies to newborn screening holds exciting promises to better public health. However, we are stilling facing technical, economical, ethical, and psychological challenges. In this symposium, a panel of prominent leaders in the field with expertise in clinical genetics, laboratory genetics, public health, ethical and psychological sciences will explore new and emerging opportunities for promoting precision medicine at the public health level right from the newborn period throughout an individual’s lifetime. Topics will span the full spectrum of public health genomic applications in newborn screening, focusing on emerging opportunities as well as challenges, both perceived and real, which must be addressed and overcome. Ample time will be afforded so that attendees have an opportunity to discuss the numerous technical, economical, ethical, and psychological issues that must be navigated as we begin to apply genomic technologies to newborn screening in order to realize the full promise of precision medicine in the public health setting.

TARGET AUDIENCE:

All healthcare professionals interested in the diagnosis, management, treatment and prevention of genetic conditions and increasing their understanding of the genetic basis of common, chronic health problems affecting both children and adults will find the programming applicable to their practice. These select sessions from the ACMG Annual Meeting are targeted for the following professionals:


• Medical and clinical geneticists
• Physicians of all specialties with an interest in genetics, genomics and the genetic basis of disease
• Genetic counselors
• Laboratory geneticists, directors, technicians and technologists
• Researchers
• Pathologists
• Educators
• Nurses
• Dietitians
• Physician assistants
• Biotechnology and pharmaceutical development professionals
• Fellows, Trainees and Students
• Public health professionals
• Genetic/consumer advocates
• Others with an interest in the science and art of medical genetics and genomics

Course Information without Educational Credit Please Click Here

 

Registration and Fees

Course only – No educational credits
ACMG Members and ACMG Trainees: ($20)
Non-members ($30)

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Whole genome and Whole Exome Sequencing for'Healthy' Individuals in Clinical Practice: Are We Up to the Challenge?

Held during the 2017 ACMG Annual Clinical Genetics Meeting in Phoenix, Arizona.  Click “Launch” for more information.
EDUCATIONAL CREDITS ARE NOT AVAILABLE

 

 

COURSE DESCRIPTION:

Genomic sequencing (whole genome and whole exome) has entered routine clinical practice for the diagnosis of genetic
disorders. The rapidly diminishing costs of such testing have also encouraged individuals who view themselves as
healthy to pursue screening through genomic sequencing. Sequencing as screening is already being advocated by many
clinicians in the wellness community. And, building upon the popularity of direct?to?consumer testing with SNP?based
arrays, direct?to?consumer sequencing is already being pursued by several companies.
Using genomic sequencing to screen ostensibly healthy individuals presents the health care system and its stakeholders
with interesting opportunities and challenges, in part because there is so little empirical evidence available. This session
will present perspectives and data from early experiences in this setting. Speakers will discuss the benefits, risks and
costs of utilizing genomic sequencing for screening, including the role of genetic counseling, types of genomic results
returned, patient acceptance, policy and regulatory implications. The use of family history and the issue of reanalysis in
light of new symptom development will also be addressed. This session will provide early data to help fill the knowledgegap
for clinical geneticists, counselors and laboratory directors in this rapidly developing area of practice.

TARGET AUDIENCE:

All healthcare professionals interested in the diagnosis, management, treatment and prevention of genetic conditions and increasing their understanding of the genetic basis of common, chronic health problems affecting both children and adults will find the programming applicable to their practice. These select sessions from the ACMG Annual Meeting are targeted for the following professionals:
• Medical and clinical geneticists
• Physicians of all specialties with an interest in genetics, genomics and the genetic basis of disease
• Genetic counselors
• Laboratory geneticists, directors, technicians and technologists
• Researchers
• Pathologists
• Educators
• Nurses
• Dietitians
• Physician assistants
• Biotechnology and pharmaceutical development professionals
• Fellows, Trainees and Students
• Public health professionals
• Genetic/consumer advocates
• Others with an interest in the science and art of medical genetics and genomics

Course Information without Educational Credit Please Click Here

 

Registration and Fees

Course only – No educational credits
ACMG Members and ACMG Trainees: ($20)
Non-members ($30)

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Whorls and Swirls: The Skin as Nature's Window to Mosaicism

Held during the 2017 ACMG Annual Clinical Genetics Meeting in Phoenix, Arizona.  Click “Launch” for more information.
EDUCATIONAL CREDITS ARE NOT AVAILABLE

 

 

COURSE DESCRIPTION:

This course will highlight the growing understanding of cutaneous mosaicism and its pathogenetic mechanisms. From clinic to bench, we will discuss practical clinical tips and cutting edge science in the context of nature's human canvas, the skin. We will review disorders with visible evidence of mosaicism. Although the association with underlying abnormality is well-known, the guidelines for patient assessment remain controversial. This session will highlight the current guidelines and recommendations for patient care. The session will also discuss recently developed genetic testing approaches that have translated into improved diagnosis and genetic counseling for individuals with mosaic/segmental presentation.

TARGET AUDIENCE:

All healthcare professionals interested in the diagnosis, management, treatment and prevention of genetic conditions and increasing their understanding of the genetic basis of common, chronic health problems affecting both children and adults will find the programming applicable to their practice. These select sessions from the ACMG Annual Meeting are targeted for the following professionals:
• Medical and clinical geneticists
• Physicians of all specialties with an interest in genetics, genomics and the genetic basis of disease
• Genetic counselors
• Laboratory geneticists, directors, technicians and technologists
• Researchers
• Pathologists
• Educators
• Nurses
• Dietitians
• Physician assistants
• Biotechnology and pharmaceutical development professionals
• Fellows, Trainees and Students
• Public health professionals
• Genetic/consumer advocates
• Others with an interest in the science and art of medical genetics and genomics

Course Information without Educational Credit Please Click Here

 

Registration and Fees

Course only – No educational credits
ACMG Members and ACMG Trainees: ($20)
Non-members ($30)

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Adult Genomics Case Conference August 2017

Adult SIG Genomic Case Conference      

Hosted by University of Washington

Click Launch for details.

 

COURSE DESCRIPTION:

The Adult Genetics Special Interest Group of the American College of Medical Genetics & Genomics is offering a case conference session presented by the University of Washington Adult Genetic Medicine Clinic, the confernce will highlight the UWMC's Adult Genetic Medicine Clinic, the diversity of indications seen by the clinic's large number of providers, the molecular diagnostic resources available to the providers, and how the clinic is expanding to more fully address complicated conditions.

Target Audience:

a. Clinical geneticists; genetic counselors; pediatric, obstetric, and maternal-fetal specialists; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, genetically influenced health problems.
b. Laboratory directors and technicians who conduct genetic testing, researchers involved in the discovery of genetic disorders and treatments and any healthcare and public health professionals who have an in interest medical and clinical genetics and genomics.

 For More Course Information Click Here

 Registration and Fees

ACMG Members and ACMG Trainees with no educational credits free
ACMG Member and ACMG Trainees with educational credits ($15)
Non-members with no educational credits ($30)
Non-members with educational credits ($55)

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2017 ACMG Genetics and Genomics Review Course

Held during the 2017 Genetics and Genomics Review Course in Tampa, Florida. Click 'Launch" for more information.

EDUCATIONAL CREDITS ARE NOT AVAILABLE FOR THIS COURSE

 

The ACMG Genetics and Genomics Review Course features a pre-course sample examination, exam preparation and exam taking tips, and in-depth coverage of exam content areas. The course offers exam preparation lectures that cover a broad range of genetic and genomic topics presented by recognized experts in the field.  Topics include:

• Cell Biology/Genomics
• Molecular Biology
• Clinical Cytogenetics
• Molecular Genetics and Genomics
• Genetic Transmission
• Biochemical Genetics
• Developmental Genetics
• Cancer Genetics
• Genetic Counseling & Risk Assessment
• Newborn Screening
• Neurogenetics
• Reproductive Genetics
• Systems-Based Disorders
• Genomic Medicine

Target Audience

This course is designed to assist genetics healthcare professionals who are seeking to update and reinforce their general knowledge of medical genetics. This course is designed to assist genetics healthcare professionals who are seeking to update and reinforce their general knowledge of medical genetics. This course also allows ABMGG individuals to prepare for Board Certification or Recertification. Genetic counselors are also welcome.

 

Course Information without Educational Credit Please Click Here

 For references, click the “Hammer & Wrench” icon at the top of the page.

Registration and Fees

Course only – No educational credits
ACMG Members and ACMG Trainees: ($745)
Non-members ($855)

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Cancer Genetic I & II

Held during the 2017 Genetics and Genomics Review Course in Tampa, Florida. Click 'Launch" for more information.
EDUCATIONAL CREDITS ARE AVAILABLE FOR THIS COURSE

 

 

Course Description

This course features a pre-course sample examination, exam taking tips, and in-depth coverage of exam content areas.
The course offers an exam preparation lecture that covers a broad range of genetic and genomic topics presented by a recognized expert in the field.

Target Audience
This course is designed to assist genetics healthcare professionals who are seeking to update and reinforce their general knowledge of medical genetics. This course is designed to assist genetics healthcare professionals who are seeking to update and reinforce their general knowledge of medical genetics. This course also allows ABMGG individuals to prepare for Board Certification or Recertification. Genetic counselors are also welcome.

Educational Credits

Course Information with Educational Credit Please Click Here

Date of Release:  May 27, 2017
Expiration Date: May 27, 2020
Estimate Time of Completion: 2 hour
Credit Offered: CME/NSGC/P.A.C.E. Additional fee (~$25) applies for NSGC credit that is billed by NSGC.

For references, click the “Hammer & Wrench” icon at the top of the page.

 

Registration and Fees

ACMG Members and ACMG Trainees with Educational Credits: ($50)
Non-members with Educational Credits ($60)
ACMG Members and ACMG Trainees without Educational Credits: ($20)
Non-members without Educational Credits: ($30)

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Cell Biology, Genomic Medicine, Genomics Basics, Genetic Transmission

Held during the 2017 Genetics and Genomics Review Course in Tampa, Florida. Click 'Launch" for more information.
EDUCATIONAL CREDITS ARE AVAILABLE FOR THIS COURSE

 

 

Course Description

This course features a pre-course sample examination, exam taking tips, and in-depth coverage of exam content areas. 

The course offers exam preparation lectures that cover a broad range of genetic and genomic topics presented by recognized experts in the field.

Target Audience
This course is designed to assist genetics healthcare professionals who are seeking to update and reinforce their general knowledge of medical genetics. This course is designed to assist genetics healthcare professionals who are seeking to update and reinforce their general knowledge of medical genetics. This course also allows ABMGG individuals to prepare for Board Certification or Recertification. Genetic counselors are also welcome.

Educational Credits

Course Information with Educational Credit Please Click Here

Date of Release:  May 27, 2017
Expiration Date: May 27, 2020
Estimate Time of Completion: 4 hours
Credit Offered: CME/NSGC/P.A.C.E.Additional fee (~$25) applies for NSGC credit that is billed by NSGC.

For references, click the “Hammer & Wrench” icon at the top of the page.

 Registration and Fees

ACMG Members and ACMG Trainees with Educational Credits: ($60)
Non-members with Educational Credits ($70)
ACMG Members and ACMG Trainees without Educational Credits: ($30)
Non-members without Educational Credits: ($40)

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Reproductive Genetics I & II

Held during the 2017 Genetics and Genomics Review Course in Tampa, Florida. Click 'Launch" for more information.
EDUCATIONAL CREDITS ARE AVAILABLE FOR THIS COURSE

 

 

Course Description

This course features a pre-course sample examination, exam taking tips, and in-depth coverage of exam content areas. 
The course offers an exam preparation lecture that covers a broad range of genetic and genomic topics presented by a recognized expert in the field.

Target Audience
This course is designed to assist genetics healthcare professionals who are seeking to update and reinforce their general knowledge of medical genetics. This course is designed to assist genetics healthcare professionals who are seeking to update and reinforce their general knowledge of medical genetics. This course also allows ABMGG individuals to prepare for Board Certification or Recertification. Genetic counselors are also welcome.

Educational Credits

Course Information with Educational Credit Please Click Here

Date of Release:  May 27, 2017
Expiration Date: May 27, 2020
Estimate Time of Completion: 2 hours
Credit Offered: CME/NSGC/P.A.C.E.  Additional fee (~$25) applies for NSGC credit that is billed by NSGC.

For references, click the “Hammer & Wrench” icon at the top of the page.

 Registration and Fees

ACMG Members and ACMG Trainees with Educational Credits: ($50)
Non-members with Educational Credits ($60)
ACMG Members and ACMG Trainees without Educational Credits: ($20)
Non-members without Educational Credits: ($30)

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Systems-Based Disorders I & II, Developmental Genetics

Held during the 2017 Genetics and Genomics Review Course in Tampa, Florida. Click 'Launch" for more information.
EDUCATIONAL CREDITS ARE AVAILABLE FOR THIS COURSE

 

 

Course Description

This course features a pre-course sample examination, exam taking tips, and in-depth coverage of exam content areas. 

The course offers exam preparation lectures that cover a broad range of genetic and genomic topics presented by recognized experts in the field.

Target Audience
This course is designed to assist genetics healthcare professionals who are seeking to update and reinforce their general knowledge of medical genetics. This course is designed to assist genetics healthcare professionals who are seeking to update and reinforce their general knowledge of medical genetics. This course also allows ABMGG individuals to prepare for Board Certification or Recertification. Genetic counselors are also welcome.

Educational Credits

Course Information with Educational Credit Please Click Here

Date of Release:  May 27, 2017
Expiration Date: May 27, 2020
Estimate Time of Completion: 3 hours
Credit Offered: CME/NSGC/P.A.C.E. Additional fee (~$25) applies for NSGC credit that is billed by NSGC.

For references, click the “Hammer & Wrench” icon at the top of the page.

 Registration and Fees

ACMG Members and ACMG Trainees with Educational Credits: ($50)
Non-members with Educational Credits ($60)
ACMG Members and ACMG Trainees without Educational Credits: ($20)
Non-members without Educational Credits: ($30)

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Featured Platform Presentations

Held during the 2017 ACMG Annual Clinical Genetics Meeting in Phoenix, Arizona.  Click “Launch” for more information.
EDUCATIONAL CREDITS ARE NOT AVAILABLE

 

 

Course Description

The four top-rated abstracts are Featured Platforms held during a special plenary session held during the 2017 ACMG Annual Clinical Genetics Meeting. The abstracts cover clinical genetics, molecular genetics/exome, and biochemical genetics. See the listing below of the abstracts presented under sessions. You may also read the abstracts by clicking on the link under Course Information.

1. WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability
2. Computational prediction of position effects of apparently balanced human chromosome
3. ClinGen Sequence Variant Interpretation Work Group recommendations for ACMG/AMP
4. New Diagnostic Biomarkers for Peroxisomal Biogenesis Disorder

Target Audience

All healthcare professionals interested in the diagnosis, management, treatment and prevention of genetic conditions and increasing their understanding of the genetic basis of common, chronic health problems affecting both children and adults will find the programming applicable to their practice. The ACMG Annual Meeting attendees include:

  • Medical and clinical geneticists
  • Physicians of all specialties with an interest in genetics, genomics and the genetic basis of disease
  • Genetic counselors
  • Laboratory geneticists, directors, technicians and technologists
  • Researchers
  • Pathologists
  • Educators
  • Nurses
  • Dietitians            
  • Physician assistants
  • Biotechnology and pharmaceutical development professionals
  • Fellows, Trainees and Students
  • Public health professionals
  • Genetic/consumer advocates
  • Others with an interest in the science and art of medical genetics and genomics

Course Information without Educational Credit Please Click Here

Registration and Fees

Course only – No educational credits
ACMG Members and ACMG Trainees: ($20)
Non-members ($30)

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ACMG Genomics Case Conference September 2017

Spinal Muscular Atrophy: A Timely Update

Hosted by The Ohio State University

Click Launch for details.

 

Course Description

Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease and the most common genetic cause of infant mortality, affecting approximately 1 in 10,000 live births. The disease is characterized by progressive symmetrical muscle weakness resulting from the degeneration and loss of anterior horn cells in the spinal cord and brain stem nuclei. The disease is classified on the basis of age of onset and clinical course. SMA is caused by mutations in the telomeric copy of the survival motor neuron 1 (SMN1) gene, but all patients retain a centromeric copy of the gene, SMN2. The homozygous absence of the SMN1 exon 7 has been observed in the majority of patients and is being utilized as a reliable and sensitive SMA diagnostic test. In the majority of cases, the disease severity correlates inversely with an increased SMN2 gene copy number. Carrier detection, in the deletion cases, relies on the accurate determination of the SMN1 gene copies. Since SMA is one of the most common lethal genetic disorders, with a carrier frequency of 1/40-1/60, carrier screening has now been recommended by both ACMG and ACOG. Major progress has also been made by developing therapeutic strategies based on understanding the pathogenesis of the disease. As a result of the recent FDA approval of the antisense therapy (spinraza), support for presymptomatic treatment by newborn screening may become an effective strategy in the future. The webinar attempts to highlight the molecular genetics of SMA with a focus on diagnostics.

 Target audience

a. Clinical geneticists; genetic counselors; pediatric, obstetric, and maternal-fetal specialists; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, genetically influenced health problems.
b. Laboratory directors and technicians who conduct genetic testing, researchers involved in the discovery of genetic disorders and treatments and any healthcare and public health professionals who have an in interest medical and clinical genetics and genomics.

Educational Credits

Course Information with Educational Credit Please Click Here

Date of Release: September 20, 2017
Expiration Date: September 20, 2020
Estimate Time of Completion: 1 hour
Course must be completed by the expiration date

For references, click the “Hammer & Wrench” icon at the top of the page.

Registration and Fees

ACMG Members and ACMG Trainees with no educational credits free
ACMG Member and ACMG Trainees with educational credits ($15)
Non-members with no educational credits ($30)
Non-members with educational credits ($55)

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ACMG Genomics Case Conference October 2017

Next-Generation Sequencing for Somatic Variant Detection in Patients with Overgrowth and Related Disorders
Hosted by Washington University School of Medicine

 Click Launch for details.

 

Course Description

Somatic variation is well recognized in relation to tumor mutation profiling in cancer genetics.  More recently, somatic variation has been discovered as the underlying cause for a number of congenital disorders with overgrowth as one of the primary clinical phenotypes.  In addition to overgrowth, many of these disorders harbor additional overlapping clinical features including but not limited to skin lesions, vascular anomalies and various neurological findings. To date, the vast majority of mutations detected in affected individuals have been found in the PI3K/AKT/mTOR pathway.  Due to the mosaic nature of this group of syndromes, testing requires deep sequencing of an affected tissue sample to uncover low variant allele fraction alterations responsible for disease.  Genomics and Pathology Services at Washington University in St. Louis developed testing for somatic overgrowth and related disorders using a target hybrid capture based next-generation sequencing assay.  This webinar will review overgrowth related disorders and our current clinical assay including a summary of our lab cohort to date and highlighted case studies.

 Target audience

a. Clinical geneticists; genetic counselors; pediatric, obstetric, and maternal-fetal specialists; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, genetically influenced health problems.
b. Laboratory directors and technicians who conduct genetic testing, researchers involved in the discovery of genetic disorders and treatments and any healthcare and public health professionals who have an in interest medical and clinical genetics and genomics.

Educational Credits

Course Information with Educational Credit Please Click Here

Date of Release:  October 25, 2017
Expiration Date: November 25, 2020

Estimate Time of Completion: 1 hour

Course must be completed by the expiration date

For references, click the “Hammer & Wrench” icon at the top of the page.

Registration and Fees

ACMG Members and ACMG Trainees with no educational credits free
ACMG Member and ACMG Trainees with educational credits ($15)
Non-members with no educational credits ($30)
Non-members with educational credits ($55)

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ACMG Genomics Case Conference November 2017

Proceeding from the Non-Diagnostic Exome: Cases from the Stanford Site of the Undiagnosed Diseases Network
Hosted by Stanford University School of Medicine


Click Launch for details.

Course Description

In this presentation we will review recent cases from the Stanford site of the Undiagnosed Diseases Network in which clinical exome sequencing was initially non-diagnostic and how additional laboratory evaluation or data reanalysis resulted in a confirmed molecular diagnosis.

Target audience

a. Clinical geneticists; genetic counselors; pediatric, obstetric, and maternal-fetal specialists; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, genetically influenced health problems.
b. Laboratory directors and technicians who conduct genetic testing, researchers involved in the discovery of genetic disorders and treatments and any healthcare and public health professionals who have an in interest medical and clinical genetics and genomics.

Educational Credits

Course Information with Educational Credit Please Click Here

Date of Release: November 15, 2017
Expiration Date: November 25, 2020
Estimate Time of Completion: 1 hour
Course must be completed by the expiration date

For references, click the “Hammer & Wrench” icon at the top of the page.

Registration and Fees

ACMG Members and ACMG Trainees with no educational credits free
ACMG Member and ACMG Trainees with educational credits ($15)
Non-members with no educational credits ($30)
Non-members with educational credits ($55)

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MOC Part IV: Prenatal Genetic Screening for Fetal Aneuploidy

Both the American Congress of Obstetrics and Gynecology and the American College of Medical Genetics and Genomics recommend that all obstetric patients should be offered evaluation for fetal aneuploidy regardless of maternal age prior to 20 weeks gestation.  This may be accomplished either through diagnostic testing by chorionic villus sampling or amniocentesis, or through screening programs involving maternal serum screening analytes, DNA fragments, and ultrasound. This module focuses on genetic screening for aneuploidy.   Screening options include first trimester screening, triple, quad, penta screening, non-invasive prenatal screening (NIPS), and ultrasound. Some screening exams are done in both the first and second trimester including integrated, sequential, and contingent screening. These various protocols for screening yield different detection and false positive rates.  Women should be counseled to understand the difference between diagnostic and screening tests to make an informed personal choice. 

ACMG Members and ACMG Trainees ($25)
Non-members ($75)

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MOC Part IV: Beckwith-Wiedemann Syndrome and Isolated Lateralized Overgrowth

The care of children with Beckwith-Wiedemann Syndrome and Isolated Lateralized Overgrowth (also known as Isolated Hemihyperplasia or Hemihypertrophy) centers around the fact that both are cancer syndromes that require ongoing longitudinal monitoring plan to catch kidney and liver malignancies early.  

ACMG Members and ACMG Trainees ($25)
Non-members ($75)

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ACMG Genomics Case Conference January 2018

Spectrum of Positive Findings Encountered During Expanded Carrier Screening

Hosted by Mount Sinai Genomics/ Sema4

Click Launch for details.

Course Description
In this webinar, we will provide an introduction to expanded carrier screening (ECS) and describe several cases that emphasize its clinical utility. These cases will include those that highlight the benefits of next generation sequencing over genotyping; the advantage of offering testing for a wide array of diseases, even those considered rare; the utility of offering individuals access to expanded panels, regardless of an individual’s ethnicity; and the use of including ancillary assays in testing panels. We will also discuss some issues to consider when performing ECS, including the effects of milder alleles, non-penetrance, and genotype-phenotype correlations.

This activity is supported by an unrestricted educational grant from QIAGEN Bioinformatics and the Ingenuity Clinical Decision Support Platform.

Target audience
a. Clinical geneticists; genetic counselors; pediatric, obstetric, and maternal-fetal specialists; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, genetically influenced health problems.
b. Laboratory directors and technicians who conduct genetic testing, researchers involved in the discovery of genetic disorders and treatments and any healthcare and public health professionals who have an in interest medical and clinical genetics and genomics.

Educational Credits
Course Information with Educational Credit Please Click Here

Date of Release: January 17, 2018
Expiration Date: November 25, 2021
Estimate Time of Completion: 1 hour
Course must be completed by the expiration date

For references, click the “Hammer & Wrench” icon at the top of the page.

Registration and Fees

ACMG Members and ACMG Trainees with no educational credits free
ACMG Member and ACMG Trainees with educational credits ($15)
Non-members with no educational credits ($30)
Non-members with educational credits ($55)

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ACMG Genomics Case Conference March 2018

Matchmaker Exchange: Solving Unsolved Cases
Hosted by Johns Hopkins University and Greater Baltimore Medical Center

Click Launch for details.

Course Description
In this webinar, the presenters will review a case that was solved by a match in one of the databases connected to Matchmaker exchange. They will explain what databases are connected and how to share the data among these databases.

Target audience
a. Clinical geneticists; genetic counselors; pediatric, obstetric, and maternal-fetal specialists; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, genetically influenced health problems.
b. Laboratory directors and technicians who conduct genetic testing, researchers involved in the discovery of genetic disorders and treatments and any healthcare and public health professionals who have an in interest medical and clinical genetics and genomics.

Educational Credits
Course Information with Educational Credit Please Click Here
Date of Release: March 21, 2018
Expiration Date: November 25, 2021
Estimate Time of Completion: 1 hour
Course must be completed by the expiration date
For references, click the “Hammer & Wrench” icon at the top of the page.


Registration and Fees
ACMG Members and ACMG Trainees with no educational credits free
ACMG Member and ACMG Trainees with educational credits ($15)
Non-members with no educational credits ($30)
Non-members with educational credits ($55)

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ACMG Genomics Case Conference April 2018

P3EGS – Expanding Exomes to the Underserved
Hosted by UCSF Benioff Children's Hospital

Click “Launch” for more information.

Course Description:
During the ACMG Genomics Case Conferences, a team from the University of California, San Francisco Benioff Children’s Hospital will present and lead discussions on an intriguing, complex and/or difficult patient cases in the area of genomics. The primary focus of these case conferences will be on the adaptation of exome or genome sequencing technology in clinical care.

Session Description:
During this webinar, we will present a summary of the P3EGS program at UCSF that seeks to assess the clinical utility of exome sequencing in an underserved and underrepresented population.

Target audience:
a. Clinical geneticists; genetic counselors; pediatric, obstetric, and maternal-fetal specialists; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, genetically influenced health problems.
b. Laboratory directors and technicians who conduct genetic testing, researchers involved in the discovery of genetic disorders and treatments and any healthcare and public health professionals who have an in interest medical and clinical genetics and genomics.

Educational Credit:
Date of Release: April 18, 2018
Expiration Date: April 18, 2021
Estimate Time of Completion: 1 hour
Credit Offered: CME

Course Information Please Click Here

For references, click the “Hammer & Wrench” icon at the top of the page

Registration and Fees

ACMG Member and ACMG Trainee (no credits) - free
Non-members- No Credits Available ($30)
ACMG Member with educational credits ($15)
Non-members with educational credits ($55)

 

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TED-Style Talks

TED-Style Talks
Held during the 2018 ACMG Annual Clinical Genetics Meeting in Charlotte, North Carolina                                                              Click Launch for details.

 

COURSE DESCRIPTION:

Are We Barriers or Necessary Mediators?
There are fewer than 4000 genetic counselors and fewer than 2000 geneticists in the United States. A recent analysis suggests there won’t be enough genetic counselors to serve the population until 2024. Meanwhile, the availability and promise of genetic testing have grown exponentially. How do we as a profession bring these two opposing trends together? A genetic counselor, Myra Roche said it best in a 2012 publication in Genetics in Medicine: “we are already talking as fast as we can.”
“Traditional” models of face-to-face counseling, which bring patients into clinic for pre- and post-test visits, are still common among many genetics providers. While this model has been followed for decades, there is limited information on the benefits. One study showed that women who underwent genetic counseling for BRCA1 and BRCA2 with a genetic counselor had increased knowledge compared to women who did not have counseling. But how important is it for women who test negative to be able to tell us six months later that hereditary breast and ovarian cancer is an autosomal dominant condition? Shouldn’t we instead be concerned with whether those women are following appropriate management guidelines? Nonetheless, some health plans require pre-test genetic counseling by a certified genetic counselor, independent of the laboratory where testing may be sent. Given that many other healthcare providers have limited genetics education and to address concerns over conflict of interest, perhaps this model makes sense. But what if all health plans had this requirement? Even if it’s the best model, the shortage of genetics providers makes it untenable.
Concurrently, many alternative service delivery models are being investigated. These range from direct-to-consumer models; genetic counselor extenders, where genetic counselors serve as educators and leaders for other clinicians who are trained to provide genetic counseling and testing; interactive computer programs; educational videos; and even online results delivery. In speaking with colleagues, following professional society list serves and even in my own ACMG oral presentation in 2016, it’s clear that some of these models make us a little uncomfortable. Who will take the family history? What about informed consent? What about VUS results? These are important questions, but they shouldn’t stop us from working with our clinician colleagues to find new and effective ways to provide services. It’s time to feel a little uncomfortable. If we don’t start asking ourselves whether we are barriers or necessary mediators to genetic testing, somebody else will and we might not like the answer.

The Power of Patient No. 1
Ever underestimate the power and impact a single patient may have. In this time of genome-wide genetic testing, new disease gene discoveries are possible at unprecedented pace. A single patient may change our careers forever. As clinicians, we should treat each patient with the curiosity and thoroughness that he/she deserves. When successful, this will be a win-win situation for both patient and clinician. We can have a lasting impact on their lives, but also on our own career. This TED-style presentation will highlight new disease gene discoveries, how they have affected patient families' lives, how they have brought communities together, and how they are driving basic research projects, which, in turn, will lead to further discoveries down the line.


The Hype, the Hope, and the Reality of the Future of Genomic Medicine
With the decreasing cost of sequencing and increasing amounts of clinical data, we are increasingly using genomics in both research and clinical care. With advances in our understanding the genome, there are greater opportunities to use genomic information in clinical care. This TED-style talk will be a horizon scanning look toward the future of scaling genomic medicine, discussing the gaps in our knowledge necessary to identify and understand novel genetic disorders and the opportunities to use novel strategies to engage and partner with patients/participants in research and clinical implementation powered by more effective use of electronic medical records and diverse data streams including wearable devices and patient reported symptoms. The talk will also highlight critical barriers to clinical implementation and the role of genetic professionals to facilitate responsible, effective, and efficient use of medical genomics.

TARGET AUDIENCE:

All healthcare professionals interested in the diagnosis, management, treatment and prevention of genetic conditions and increasing their understanding of the genetic basis of common, chronic health problems affecting both children and adults will find the programming applicable to their practice. These select sessions from the ACMG Annual Meeting are targeted for the following professionals:
• Medical and clinical geneticists; genetic counselors; pediatric, obstetric, and maternal-fetal specialists; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, genetically influenced health problems
• Laboratory directors and technicians who conduct genetic testing
• Researchers involved in the discovery of genetic disorders and treatments
• Medical students, undergraduate and graduate students of the biomedical sciences, and genetic counseling students.
• Healthcare and public health professionals who have an in interest in medical and clinical genetics and genomics, delivery of genetics services, or implementation of genomic medicine in the health care system.

Educational Credits:

Date of Release: April 16, 2018
Expiration Date: April 15, 2020 (CME, General CEU's, P.A.C.E.®)
Estimate Time of Completion:1 hour
Course must be completed by the expiration date

Course Information Please Click Here

Registration and Fees:

ACMG Member and ACMG Trainee (no credits) - free
Non-members- No Credits Available ($30)
ACMG Member with educational credits ($15)
Non-members with educational credits ($55)

Students and Trainees Please contact education@acmg.net for complimentary access

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MOC Part IV: Assessment for and Management of Lynch Syndrome

Lynch syndrome, also referred to as hereditary non-polyposis colon cancer (HNPCC), is a hereditary cancer predisposition syndrome whose main cancer risks are colorectal cancer and endometrial cancer.  Although the terms Lynch syndrome and HNPCC are often used interchangeably, a classification of Lynch syndrome specifically refers to families whose cancers are due to an mutation in one of several mismatch repair genes.  The lifetime risk for colorectal is as high as 75% by the age of 70 years with up to a 52% risk of a second colorectal cancer if appropriate screening is not implemented.  The endometrial cancer risk is 25-60%.    Additional cancer risks that are within the spectrum of Lynch syndrome are ovarian (up to 20%), urothelial, and gastric (up to 13%).  Less common cancers include hepatobiliary tract, brain, small bowel, pancreatic, sebaceous adenomas or carcinomas, and keratocanthomas (combined risk 6%).

Germline mutations in the DNA mismatch repair (MMR) genes are responsible for the hereditary risk.   MLH1 and MSH2 mutations account for 70-90% of Lynch syndrome families, MSH6 and PMS2 are responsible for 7-10% and approximately 5% of Lynch syndrome families respectively.  EPCAM deletions account for approximately 1% of families.  All together, Lynch syndrome represents 1–3% of colorectal cancers and 1–4% of endometrial cancers.  Thus, appropriate identification and assessment for Lynch syndrome is imperative for proper management.

Techniques employed to assess the possibility of Lynch syndrome include microsatellite instability (MSI), immunohistochemical (IHC).  Germline analysis of the MMR genes may be used to identify the specific gene mutation, when a diagnosis is suspected based upon family history or molecular evidence of an underlying problem in a MMR gene.

Registration and Fees

ACMG Members and ACMG Trainees ($25)
Non-members ($75)

 

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MOC Part IV: Non-Invasive Prenatal Screening (NIPS)

Non-invasive prenatal screening with cell free DNA has become an important part of prenatal genetics practice. This testing has been utilized to screen for the common trisomies including Trisomy 13, 18, and 21. Testing has also expanded to sex chromosomal abnormalities. More recently, some platforms have included testing for microdeletions/copy number variations. Pretest counseling is required, as well as appropriate reporting by laboratories performing the testing. Patients should be able to make adequate decisions regarding the role of NIPS in their pregnancies, as well as the potential consequences of a positive or negative result.

Registration and Fees

ACMG Members and ACMG Trainees ($25)
Non-members ($75)

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ACMG Genomics Case Conference May 2018

The Cost-effective Medical Exome Based Diagnostic Test in Chine and its Clinical Utility in Determining Treatment Options for Patients with Short Stature or Disorder of Sex
Hosted by Shanghai Children’s Medical Center
Click “Launch” for more information.

Course Description
During the ACMG Genomics Case Conferences, a team from Shanghai Children’s Medical Center, will present and lead discussions on an intriguing, complex and/or difficult patient cases in the area of genomics. The primary focus of these case conferences will be on the adaptation of exome or genome sequencing technology in clinical care.

Session Description
China adopted the NGS technology rapidly for the purpose of molecular diagnosis but the lack of well-trained specialists (clinical geneticist, lab genomic scientist and genetic counselor) and the high cost associated with NGS-based test are limiting the routine clinical utilization of this technology in China. Due to such situations, we sought to use a subexome approach by limiting the test to the medical exome that only target the known Mendelian disease genes (medical exome) and only offered to the proband in the family as a cost effective approach. We will present the advantages and limitations of such a practice. We will demonstrate the clinical utilities of this medical exome based test for patients with endocrinology conditions such as short stature and disorder of sex development.

Target audience
a. Clinical geneticists; genetic counselors; pediatric, obstetric, and maternal-fetal specialists; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, genetically influenced health problems.
b. Laboratory directors and technicians who conduct genetic testing, researchers involved in the discovery of genetic disorders and treatments and any healthcare and public health professionals who have an in interest medical and clinical genetics and genomics.

Educational Credit
Date of Release: May 16, 2018
Expiration Date: May 16, 2021
Estimate Time of Completion: 1 hour
Credit Offered: CME

Course Information Please Click Here

For references, click the “Hammer & Wrench” icon at the top of the page

Registration and Fees

ACMG Member and ACMG Trainee (no credits) - free
Non-members- No Credits Available ($30)
ACMG Member with educational credits ($15)
Non-members with educational credits ($55)

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ACMG Genomics Case Conference September 2018

New Disease Gene Discoveries – Genetic and Functional Evidence

Hosted by Baylor College of Medicine

Click Launch for details.

Overview

During the ACMG Genomics Case Conferences, a team from Baylor College of Medicine, will present and lead discussions on an intriguing, complex and/or difficult patient cases in the area of genomics.  The primary focus of these case conferences will be on the adaptation of exome or genome sequencing technology in clinical care.

 Session Description

Multiple lines of evidence are needed to convince us that variants in genes not yet known be human disease genes are truly causative. In this webinar, clinical geneticists, molecular geneticists, and basic science researchers outline paths for novel disease gene discovery. They take learners on an interactive journey, showcasing how thorough clinical assessment and whole exome sequencing are the basis of novel disease gene discovery. They will then go on to illustrate how in vitro functional assays can provide evidence that allow us to better understand the variants’ pathogenicity.

Target audience
a. Clinical geneticists; genetic counselors; pediatric, obstetric, and maternal-fetal specialists; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, genetically influenced health problems.
b. Laboratory directors and technicians who conduct genetic testing, researchers involved in the discovery of genetic disorders and treatments and any healthcare and public health professionals who have an in interest medical and clinical genetics and genomics.

Educational Credit
Date of Release: September 19, 2018
Expiration Date: September 19, 2021
Estimate Time of Completion: 1 hour
Credit Offered: CME

Course Information Please Click Here

For references, click the “Hammer & Wrench” icon at the top of the page

Registration and Fees

ACMG Member and ACMG Trainee (no credits) - free
Non-members- No Credits Available ($30) 
ACMG Member with educational credits ($15)
Non-members with educational credits ($55)

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Ehlers-Danlos Syndrome, Hypermobility Type (EDS-HT), in Children: Differential Diagnosis and Recommendations for Management

Hosted by the ACMG Professional Practice and Guidelines Committee

EDUCATIONAL CREDITS ARE NOT AVAILABLE FOR THIS COURSE

Overview

During this webinar we will review case(s) that illustrate difficulty of clinical diagnosis of EDS-HT and review case(s) that illustrate challenges in the management of EDS-HT. Reference to new ACMG guidelines for Evaluation of Children with Joint Hypermobility will be made. Areas of clinical uncertainty and common misconceptions will be addressed.

Date of Release:  January 18, 2017
Course Information Click Here

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ACMG Genomics Case Conference October 2018

Newborn Sequencing Cases from the NSIGHT BabySeq Project
Hosted by Memorial Sloan Kettering Cancer Center and Harvard Medical School

Click Launch for details.

Overview
Genomic case conferences are on-demand webinars that focus on the adaptation of exome or genome sequencing technology in clinical care. During the ACMG Genomics Case Conferences, expert(s) from select institutions will present and lead discussions on an intriguing, complex and/or difficult patient cases in the area of genomics. Genomic Case Conferences are free for Members/Trainees (credits not included).

Session Description
Newborn genomic sequencing (nGS) provides the opportunity to detect a wide range of conditions for which early knowledge can improve health outcomes, while challenges exist in the interpretation and reporting of nGS results. The BabySeq Project is a randomized controlled trial within the NewbornSequencing in Genomic Medicine and Public Health (NSIGHT) consortium that explores the use of genomic sequencing in newborns. Two cohorts consisting of healthy newborns from the well baby nursery or ill newborns from neonatal intensive care units are enrolled, and participants are randomized to receive either standard of care only or genomic sequencing in addition to standard of care. Here we present two cases encountered in the BabySeq Project that illustrate the challenges of analyzing and reporting nGS results and our approaches to overcome them.


Target audience
a. Clinical geneticists; genetic counselors; pediatric, obstetric, and maternal-fetal specialists; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, genetically influenced health problems.
b. Laboratory directors and technicians who conduct genetic testing, researchers involved in the discovery of genetic disorders and treatments and any healthcare and public health professionals who have an in interest medical and clinical genetics and genomics.

Educational Credit
Date of Release: October 10, 2018
Expiration Date: October 10, 2021
Estimate Time of Completion: 1 hour
Credit Offered: CME

Course Information Please Click Here

For references, click the “Hammer & Wrench” icon at the top of the page

Registration and Fees

Fees with Educational Credits*
ACMG Member $15.00
Non-members $55.00

Fees without claiming educational credits:
ACMG Member and ACMG Trainee – No Charge
Non-members- $30.00

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ACMG Genomics Case Conference November 2018

Prenatal Molecular Diagnosis of Skeletal Dysplasias Using Targeted NGS

Hosted by Connective Tissue Gene Tests (CTGT)

Click Launch for details.

Overview

Genomic case conferences are on-demand webinars that focus on the adaptation of exome or genome sequencing technology in clinical care. During the ACMG Genomics Case Conferences, expert(s) from select institutions will present and lead discussions on an intriguing, complex and/or difficult patient cases in the area of genomics. Genomic Case Conferences are free for Members/Trainees (credits not included).

Session Description

Lethal skeletal dysplasias are typically identified by routine prenatal ultrasound; however, determining the exact diagnosis by ultrasound alone can be challenging. This webinar will discuss one laboratory’s experience with clinical molecular genetic testing of prenatally identified skeletal dysplasias using targeted NGS panels. The presentation will describe the value of targeted testing in this setting, the genes most commonly responsible for these disorders, special considerations for classification of variants in these genes, and the importance of continuous evaluation of test results to improve the clinical sensitivity of targeted panels. Several cases will be presented as representative examples to illustrate important points.

Target audience
a. Clinical geneticists; genetic counselors; pediatric, obstetric, and maternal-fetal specialists; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, genetically influenced health problems.
b. Laboratory directors and technicians who conduct genetic testing, researchers involved in the discovery of genetic disorders and treatments and any healthcare and public health professionals who have an in interest medical and clinical genetics and genomics.

Educational Credit
Date of Release: November 14, 2018
Expiration Date: November 14, 2021
Estimate Time of Completion: 1 hour
Credit Offered: CME

Course Information Please Click Here

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Registration and Fees

ACMG Member and ACMG Trainee (no credits) - free
Non-members- No Credits Available ($30)

CMG Member with educational credits ($15)
Non-members with educational credits ($55)

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