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

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.

Join the discussion with panelists Blair K. Stevens, MS, CGC and Katie Stoll, MS, CGC moderated by Maya Sabatello, LLB, PhD.

Please go here to register.