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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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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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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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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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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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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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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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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