Written by Babatunde Carew
Spoon Feed
Point-of-care outreach in primary care clinics led to more patients completing hereditary cancer risk assessments. However, direct outreach methods (mail, email) resulted in higher follow-through for genetic testing.
Genetic cancer screening – should primary care take the lead?
The NCCN and USPSTF recommend genetic testing for patients with personal or family history of breast, ovarian, tubal, peritoneal, pancreatic, or prostate cancer in certain circumstances. Despite these guidelines, many eligible patients do not undergo genetic testing. This cluster randomized clinical trial of 12 primary care clinics evaluated whether point-of-care (POC) (during primary care visit) or direct patient engagement (DPE) via email or postal mail method more effectively identified patients eligible for hereditary cancer genetic testing. Among 95,623 patients, a POC method significantly increased risk assessment completion (19.1% vs 8.7%, AOR 2.68; P<.001). Oddly, however, eligible patients in the DPE group were more likely to complete genetic testing (44.7% vs 24.7%; AOR 0.49; P<.001). Testing was conducted using a 29-gene panel. Actionable pathogenic variants (those with established risk-reduction guidelines) were identified in 5.2% of tested patients.
How does this change my practice?
While the best method remains uncertain, this study made one thing clear: I should be doing a better job identifying patients at risk for hereditary cancers who are eligible for genetic testing. But doing this in primary care will require overcoming logistical hurdles. While the AAFP recommends tools for identifying patients who may benefit from BRCA testing, we need to develop a simple, universal hereditary cancer risk assessment tool and expand access to genetic counseling before using broad genetic panels routinely in primary care.
Source
Strategies to Assess Risk for Hereditary Cancer in Primary Care Clinics: A Cluster Randomized Clinical Trial. JAMA Netw Open. 2025 Mar 3;8(3):e250185. doi: 10.1001/jamanetworkopen.2025.0185. PMID: 40053353
