New ACMG Guidelines for Expanded Carrier Screening with Barbara Harrison and Katie Stoll


0:00 The transition away from targeted screening – is it a good thing? Does making a test available to everyone – is that equivalent to equity?

9:00 Identifying rarer conditions or variants with which we have limited experience present, as BH calls it, “a research project in real time.” For anyone going through this testing, KS points out, there’s a high likelihood of finding out something about which we know very little.

16:15 ACMG’s recommendations for what to include in ECS is based (in part) on carrier frequency. Did they get this right?

25:25 On, phenotype, the other criterion for what belongs on the panel: KS notes that the ACMG claims it uses “published definitions” to bucket conditions. “I guess my concern with ACMG laying this out there that way is… it’s not value-neutral”

29:15 KS and BH discuss the ACMG’s choice not to include outside voices in the development of these guidelines. “When we are talking about making policy that will affect everyone in society, I wouldn’t think you’d want… to be the small group that is making this decision…”

37:00. Counseling is challenging in a situation of uncertainty and flux.

49:55 How advocacy can work to make things better.

Today, Laura speaks with Barbara Harrison, Assistant Professor at Howard University (and 2020 NSGC Natalie Weissberger Paul National Achievement Award winner) and Katie Stoll, executive director of Genetic Support Foundation, about the new guidelines from ACMG on expanded carrier screening: how these changes move the field forward, and how they fall short.

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