daphmarts.bsky.social
🧬Assistant Professor of Biomedical Ethics @ Stanford 📕Author of WHAT WE INHERIT (2026) 🐈 Mom to Sassy & 🙋🏾♀️ Mom to Théa 🧘🏾♀️Yogi in training daphnemartschenko.com
👤 Joined on 25 July 2023
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@daphmarts.bsky.socialWould love to hear any feedback, and for more reading on the impact of the 2023 NASEM report, check out our preprint surveying early-career researchers, led by @jayatirsharma.bsky.social and @christacaggiano.bsky.social, from earlier this year: www.biorxiv.org/content/10.6...
Show PostBut, this also illustrates the importance of bottom-up change: decades of work by individual researchers across the field have systematically improved our use of population descriptors in human genetics and genomics. We need to continue to invest in these efforts -- ethics and rigor are intertwined!
Show PostTo be clear, this is good news! Over the last 20 years, human genetics GWAS have consistently followed all 2023 NASEM guidelines more thoroughly. (One notable exception is community engagement, which remains poor.)
Show PostSurprisingly, we also find that improvements in the use of population descriptors far predate the publication of the NASEM report -- suggesting these changes are not the result of any single intervention but rather the cumulative effects of tiny shifts in research practices and community norms
Show PostHere, we use the recommendations of the NASEM report as a rubric to evaluate the use of pop descriptors. We find that GWAS on datasets from outside the US or UK, or on non-European populations, tend to score better, suggesting these GWAS systematically use pop descriptors more accurately + ethically
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