New ACMG Guidance on Carrier Screening: More or Less Equitable?

ELSI Friday Forum • December 10, 2021

Next-generation sequencing capabilities have enhanced general population carrier screening by expanding the number of genes and variants on carrier screening panels. Professional recommendations are shifting towards universal screening, that is: screening that is not limited to populations by race or ethnicity and more inclusive of diverse populations. While this may lead to increased and wider accessibility to genetic information, these recommendations continue to face a number of scientific, ethical and social challenges that may undermine the goal of health equity. Who has access to carrier screening? Who should receive carrier testing and why? On what basis are decisions about the “severity of genetic conditions” being determined, by whom, and at what cost? And, what role should communities that are impacted by carrier screening guidelines have in these discussions? This session will explore carrier screening from a historical and clinical perspectives and consider the tradeoffs of increased detection and uncertainty, utility, and disability inclusion.

Panelist: Blair K. Stevens, MS, CGC (University of Texas Health)
Panelist: Katie Stoll, MS, CSC (Genetic Support Foundation)
Moderator: Maya Sabatello, LLB, PhD (Columbia University)

Please see the attached transcript and resources files in the upper right hand corner of this page for more information on this topic, as well as the ELSIhub Collection "Expanded Carrier Screening (ECS): Clinical and Ethical Considerations for Genetic Counseling"