Session # GGT245

Getting to the source of the matter: Evidence-driven reanalysis in exome sequencing

Presenting Author: Meghan C. Towne, MS, CGC

Take home points: 

1. The Patient for Life Program demonstrated a 19% relative increase in diagnostic yield, primarily driven by proactive, lab-initiated reanalysis based on emerging gene-disease relationship evidence.
2. New gene-disease relationships were the most significant factor in reclassifications, accounting for 64% of upgrades.
3. Nearly ½ (45%) of upgrades were clinically significant upgrades, moving from uncertain or negative to positive.

• Authors: Meghan C. Towne; Sheila Saliganan; Kendra Webb; Brooklynn Gasser; Kelly Hagman; Bess Wayburn; Jennifer Huang; Kelly Radtke
• Conference: NSGC 2024
• Date: Wednesday, Sep 18, 2024 5:45pm - 7:00pm