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

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

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.
Abstract Poster