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

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

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.
Abstract Poster