@IainSForrest
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Physician-Scientist | Internal Medicine, Genomics, AI @JohnsHopkinsBayview 👨🏻⚕️ Electric Cellist/Singer-Songwriter (link below) 🎻
Baltimore, MD
Joined October 2020
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🚨“Pathogenic” genetic variant does NOT = guaranteed disease 🚨
Yet, doctors and patients are still left to decide what to do with the label…
In our new @NatureGenet perspective, we explain why this is and how we can improve genetic risk interpretation🧵
Massive gratitude to all coauthors, institutions, and our journal partners:
@KuanlinHuang
@WendyKChung
@DrDanielJordan
@Dr_J_Eggington
@DoGenetics
@IcahnMountSinai
@NatureGenet
@SpringerNature
Thank you all for the collaboration & support 🙏
🛑TLDR:
It’s time to stop asking “Is this variant pathogenic?” — and instead ask “What’s its disease risk — and for whom?”
Read the full perspective: doi.org/10.1038/s41588-025-0… 👈
#Genomics #medicine #PrecisionMedicine
Iain S. Forrest, MD-PhD retweeted
The O’Neal lab at @JohnsHopkinsSPH is hiring a Lab Manager to work on ticks and tick-borne diseases. You can apply here: jobs.jhu.edu/job-invite/1190…
Most genetic reports label variants as ✅ “pathogenic” or ❌ “benign.”
But what patients really want to know is: what are my chances of getting the disease?
🚨 In our new Science study, we used AI + 1.3M patient records to better answer that…
It took a village! Forever grateful to @DoGenetics Lab @IcahnMountSinai including @DrDanielJordan @OmegaPetrazzini and collaborators @girish_nadkarni @JudyCho7 @WendyKChung. No better way to kick off internal medicine residency @BayviewMedicine @HopkinsBayview @JohnsHopkins 💪
TLDR
Post-Labor Day inspiration to start your week: AI + EHR data may finally answer the question patients ask most…
👉 What are the chances this DNA variant actually make me sick?
Read the full paper in @ScienceMagazine: doi.org/10.1126/science.adm7…
#PrecisionMedicine #Genomics #AI
