Thread by @aishuarjun

.@TheACMG recommends all pregnant patients and those planning a pregnancy should be offered screening for a panel of 100+ genes (autosomal recessive genes with a carrier frequency of ≥1/200 & & certain X-linked genes) go.nature.com/36NagVd #GCchat #ExpandedCarrierScreening

https://twitter.com/TheACMG/status/1417455055113003009

They specifically highlight that they DO NOT recommend offering Tier 1 (CF & SMA only) and/or Tier 2 (genes w/ ≥1/100 carrier frequency) screening, because these do not provide equitable evaluation of all racial/ethnic groups. #expandedcarrierscreening #GCchat

ACMG states: Carrier screening paradigms should be ethnic and population neutral and more inclusive of diverse populations to promote equity and inclusion. #expandedcarrierscreening #GCchat

Overall this practice resource is supporting of expanded carrier screening but it will be interesting to see how it is adopted by the non-genetics professionals who order the majority of carrier screening. #GCchat

I also wonder if there could be a 1 page summary that condenses the main points about what is recommended bc I think some folks can get a bit lost in the document. Or even an additional doc that combines all the tables to provide a singular table w/ the recommended genes. #GCchat

And while I would love to see carrier screening = expanded carrier screening, I'm not sure how easily we can change the language that we have been using for over a decade to describe screening for more than CF, SMA & genes based on ethnicity. #GCchat

I am 100% here for an approach that will allow patients and health-care professionals to communicate with greater precision but not sure a tiered approach is the way? I'm curious to hear from some others on what they think would be the best. #GCchat

They also call on labs to describe the corresponding ACMG tier along with the content of carrier screening panels in the laboratory report which will be an interesting update. #GCchat

I do appreciate how they recognize that offering a comprehensive Tier 3 panel to all is only the first step toward equity in carrier screening and clinical follow up. #GCchat

And highlight that "Working collaboratively genetics professionals are encouraged to innovate by utilizing telemedicine and online tools to overcome challenges to the workforce." #GCchat

I also appreciate that ACMG ends their practice resource with a call to payers to provide coverage for Tier 3 carrier screening to ensure equitable care to all individuals including those disadvantaged by race and financial hardship. That should be more routine #GCchat

All in all, a practice resource that is supportive of expanded carrier screening and making our practice more inclusive and equitable. The next step would be to work with SMFM, ACOG, and NSGC to help make this resource a reality...#GCchat