Lorena Dujmusic, BS

Elizabeth Kellom, MS, CGC

Title: “To trust or not to trust: Familial implications amidst variant classification discrepancies in FARS2”

1. Summarize the natural history of both phenotypes of FARS2 Deficiency.
2. Formulate ideas to address variant classification discrepancies with patients.
3. Propose appropriate situations in which carrier testing should be offered despite lack of clinical utility.

Abigail Freeman, MS, CGC

Title: “Mysterious D.U.S – a duplication of uncertain significance in COL6A2”                                                      

1. Define the phenotypic and mutational spectrum in COL6A2 disorders                                                     
2. Identify optimal testing strategy in the context of limited medical resources and family history information. 
3. Discuss differential importance of a genetic diagnosis for a patient vs a provider