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JAMA Study Finds Cancer-Linked Genetic Variants in Up to 5% of Americans

Using NIH All of Us data from over 400,000 people, Cleveland Clinic researchers say the prevalence should prompt reconsideration of who gets genetic testing.

Overview

  • The analysis, published October 27 in JAMA, evaluated genetic sequencing and health records from more than 400,000 participants in the All of Us Research Program.
  • Researchers examined over 70 cancer-related genes and identified more than 3,400 unique pathogenic variants across the study population.
  • Many carriers would not meet traditional family-history–based criteria for testing, indicating that current guidelines may miss at-risk individuals.
  • The authors highlight potential benefits of expanded genetic screening and reinforce the role of routine screenings such as mammography and colonoscopy for early detection.
  • The findings are reported in the context of rising early-onset cancers in younger adults, and the study is presented as evidence to inform future screening policy rather than an immediate guideline change.