Genomic Screening at a Single Health System
In this large, genomics-informed cohort study from a single health system, 1 in 30 participants had a potentially actionable genomic finding. However, nearly 90% were unaware of their risk prior to screening, demonstrating the utility of genomic screening in identifying at-risk individuals. Most large-scale biobanks with genomic and EHR data did not return genomic results with potential medical relevance, missing opportunities to significantly improve genomic risk ascertainment for these individuals and to perform longitudinal studies of clinical and implementation outcomes in diverse settings.
Authors
- Melissa Kelly (ORCID: https://orcid.org/0000-0003-4708-2261)
- Alastair J. Martin (ORCID: https://orcid.org/0000-0002-7963-4000)
- David D.K. Rolston (ORCID: https://orcid.org/0000-0002-8707-949X)
- Marc S. Williams (ORCID: https://orcid.org/0000-0001-6165-8701)
- W. Andrew Faucett (ORCID: https://orcid.org/0000-0003-3051-3256)
- Cara Z. McCormick
- Amy C. Sturm (ORCID: https://orcid.org/0000-0001-6839-7786)
- Juliann M. Savatt (ORCID: https://orcid.org/0000-0001-6444-1962)
- Natasha T. Strande (ORCID: https://orcid.org/0000-0001-5148-9772)
- Karen E. Wain (ORCID: https://orcid.org/0000-0002-3711-7670)
- Michelle Pistner Nixon
- Adam H. Buchanan (ORCID: https://orcid.org/0000-0002-6518-2453)
- David H. Ledbetter
- Huntington F. Willard
Institutions
- Geisinger Medical Center (US)
- Mayo Clinic (US)
- University of Florida (US)
- 23andMe (United States) (US)
- Florida College (US)
Publication Details
- Journal
- JAMA Network Open
- Published
- 2025-03-17
- DOI
- https://doi.org/10.1001/jamanetworkopen.2025.0917
- Citations
- 20
- Primary Topic
- BRCA gene mutations in cancer
- Type
- article
- Field-Weighted Citation Impact
- 36.34
Funders
- Regeneron Pharmaceuticals