Course : Adult Genomics Case Conference August 2016

Adult Genomic Case Conference

Hosted by Emory University School 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 session, participants should be able to:

1. Recognize the difficulties in assigning a specific phenotype to a known pathogenic mutation in sudden cardiac death

2. Review the clinical differential diagnosis for sudden cardiac death

3. Describe the challenges in diagnostic testing for hereditary melanoma

4. Describe the counseling considerations of identifying a mutation in a predisposition gene

5. Recognize alert signs that can point to a metabolic disorder in an adult

6. Review the clinical presentation of cobalamin deficiencies

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