Session # P618

Optimizing diagnostic potential: Impact of familial sample configurations on exome sequencing

Presenting Author: Meghan Towne, MS, CGC

Take home points: 

1. Trio exome sequencing, with both biological parents, demonstrated significantly higher diagnostic rates and lower variant uncertainty compared to other familial sample configurations (FSC). However, parental trios are not always possible.
2. With 30% of cases in this cohort without a parental trio, there is a need to maximize the clinical utility of FSC.
3. One approach is through standard evaluation of new evidence in the literature which was found to be the primary driver for proactive reclassifications across FSC.

• Authors: Meghan C. Towne; Melissa Holman; Andrew Giles; Brooklynn Gasser; Ginger J. Tsai; Brian Schoenfeld
• Conference: ACMG 2024
• Date: Friday, Mar 15, 2024 10:30am - 12:00pm