Identification of Patients at Elevated Cancer Risk through a Community-Based Genetic Testing Program

Only a subset of individuals meeting National Comprehensive Cancer Network (NCCN) guidelines for genetic screening of hereditary cancers are being offered testing. A community-based screening program has the potential to expand access, identify critical screening opportunities among those testing positive, and have potential downstream clinical effects.

We conducted a retrospective review of women who underwent mammography and genetic testing at a community hospital between August 2020 and May 2023. For those testing positive for a pathogenic/likely pathogenic (P/LP) variant, potential cancer screening and surgical recommendations were identified utilizing NCCN guidelines.

A total of 14,192 women were screened, with 3224 (23%) meeting NCCN criteria. Of these patients, 50.3% opted for testing and 7.6% were found to have P/LP variants, encompassing 18 different genes. The genes with the highest prevalence of P/PV variants included CHEK2 (26%), MUTYH (21%), BRCA2 (8%), APC I1370K (8%), and Lynch Syndrome-associated (7%). Among those positive for a P/LP variant, individuals were identified to be at an increased risk for at least one form of cancer, including breast (52%), colon (45%), ovarian (31%), pancreas (28%), melanoma (20%), endometrial (11%), urologic (7%), and stomach/small bowel (7%), leading to a potential change in screening and risk-reducing surgery recommendations. For the total population tested, 5.3% of women qualified for MRI or earlier mammograms, and 3.4% needed earlier or more frequent screening colonoscopies.

These findings suggest that a community-based genetic program can identify individuals at increased cancer risk who might otherwise remain undetected. These results provide opportunities to reduce morbidity/mortality through increased screening and risk-reducing procedures.