The Adult Genetics Special Interest Group of the American College of Medical Genetics & Genomics is offering a quarterly live 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 will present 2-3 cases (as time permits) and lead a live 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.
This session will feature three cases: two cancer cases and one non-cancer related case. There will be a presentation on OTC deficiency in females and the two cancer cases will be atypical presentations of GI polyposis and constitutional MLH1 promoter hypermethylation in Lynch Syndrome.

This course does not offer educational credits.