Course : Adult Genomics Case Conference November 2016

Adult Genomic Case Conference

Hosted by Baylor College of Medicine

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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.

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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)


At the conclusion of the series, participants should be able to:

1. Discuss a case of late-onset presentation of a female with an unknown X-linked inborn error of metabolism.

2. Determine appropriate metabolic diagnostic testing for an adult patient with a suspected inborn error of metabolism.

3. Identify constitutional MLH1 promoter hypermethylation as a possible etiology of Lynch Syndrome.

4. Explore other diagnoses when there is an atypical phenotype. 

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