A new JAMA study led by Dr. Gideon Idumah and colleagues from the Cleveland Clinic analyzed over 400,000 individuals from the NIH All of Us database — one of the largest, most diverse genomic datasets ever assembled.
The results are striking:
👉 5.05% of Americans carry pathogenic or likely pathogenic variants (P/LPVs) in well-known cancer susceptibility genes.
👉 The most common were MUTYH (1.3%), BRCA2 (0.42%), and MITF (0.37%).
👉 BRCA1/2 carrier frequencies exceeded prior population estimates, underscoring how many people at genetic risk remain undiagnosed.
The study found that genetic risk spans all demographics, though prevalence varies by race — highest among White participants, lowest among Asian participants. Many of these carriers have no prior cancer history and would be missed by current testing guidelines.
🔍 Key takeaway:
Millions of Americans may harbor inherited cancer risks without knowing it. Broader population-based genetic screening — not just for those with family history — could profoundly reshape early detection and prevention.
🧠 At Human Longevity, Inc., we share this vision — integrating whole-genome sequencing with advanced imaging, proteomics, and AI-driven analysis to find disease before it strikes.
📖 Read the full JAMA paper here: https://lnkd.in/gV_t2jKN