Exome & General Genetics

Session # Platform

Addressing equity in exome sequencing: Proactive reanalysis helps to reduce racial, ethnic, and ancestral disparities

Take home points:

  1. Exome sequencing reanalysis provides an increase in diagnostic yield across all REA cohorts.
  2. Diagnostic yields, uptake, and success of exome sequencing reanalysis are significantly impacted by patient REA, with African American and Black group having among the lowest diagnostic yield, reanalysis rates, and provider-initiated reanalysis rates.
  3. This study suggests that laboratory-initiated reanalysis can help reduce disparities in exome sequencing utility between REA groups.


Authors: Andrew Giles, Kimberly Zayhowski, Aidan O'Hare, Maggie Ruderman

Ambry Author: Meghan Towne

  • Speakers: Andrew Giles
  • Conference: NSGC 2023
  • Date: Thursday, Oct 19, 2023 4:45pm - 5:45pm

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