Dispelling Myths about WGS for Rare Disease
Speaker:
Trish Brown, MS, CGC
Contact Hours:
1.0
Date:
September 27, 2024 - September 30, 2026
Description:
In July 2021, the American College of Medical Genetics and Genomics (ACMG) published a new clinical practice guideline that recommends WGS and whole exome sequencing (WES) as first line tests for patients with CA/ID/DD. While WGS is now recommended by ACMG, there are still misunderstandings that hinder access to the test for patients in need. This presentation reviews myths about WGS and shows the latest evidence to dispel them.
Learning Objectives:
- Review the latest evidence supporting the clinical utility of WGS.
- Explain how variants of unknown significance (VUS) are reported.
- Describe the expected utilization of WGS.