Thrilled to share that our latest study on genetic testing in critically ill adults at @PennMedicine is now published in The American Journal of Human Genetics (@AJHGNews) -- and was featured in @ScienceNews! π§¬π₯
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#genetic testing can reveal life-altering diagnoses; but itβs rarely offered to adults in the #ICU. We asked: How often do genetic conditions underlie adult critical illness? What do these findings mean for patient care and #disparities?
π AJHG: cell.com/ajhg/fulltext/S0002β¦
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Key finding: Nearly 1 in 4 critically ill young adults age 18-40 had a genetic diagnosis directly related to their illness; half of these diagnoses were unknown to the patients or their doctors. This is a wake-up call for how we think about genetic disease in adult medicine.
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Our study also uncovered concerning disparities: Black patients were significantly less likely than White patients to be aware of their genetic diagnosis, and this was linked to higher mortality rate, potentially contributing to worse ICU outcomes for Black patients.
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Weβre super grateful to see our work amplified by @ScienceNews , which covered our studyβs implications for ICU practice, surprisingly high diagnostic rate, and what must change for genetic testing to help more adults.
π° Read the feature:
science.org/content/article/β¦
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Huge thanks to our amazing team, patients, and families who made this possible. We hope these data inform broader conversations about when and for whom genetic testing should be routine β not just for children, but for adults too.
Jul 11, 2025 Β· 8:37 PM UTC
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π Check out the full paper:
cell.com/ajhg/fulltext/S0002β¦
π’ Read the Science coverage:
science.org/content/article/β¦
π Excited to keep pushing this conversation forward!
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