Point-of-care models for genetic testing among patients at risk of hereditary cancer: A systematic review

Abstract

Broadening recommendations for hereditary cancer testing have increased demand for genetics services and prompted alternatives to referral-based pre-test genetic counseling. This systematic review summarized testing models used by non-genetics providers in point-of-care settings and associated clinical outcomes. PubMed and Embase were searched from January 2014 to March 2024. Outcomes included testing uptake, treatment decisions, turnaround time, post-test counseling, and cascade testing. Forty-eight articles reporting 46 studies were included; 41 involved patients with cancer, and 5 included patients with and without cancer. Pre-test education methods included provider-mediated conversations, video, digital platforms, and written materials. Testing uptake ranged from 49% to 100% in patients with cancer and 18% to 87% in mixed populations meeting testing criteria. Among studies with comparison groups, 19 of 20 observed similar or higher testing uptake, and 10 of 11 noted numerically shorter turnaround times with point-of-care testing. Fourteen studies reported test-informed management. Post-test counseling and cascade testing were inconsistently reported. Overall, the diverse studies demonstrated pathways for timely access to testing, often associated with increased uptake and impacts on clinical management; however, most focused on breast, ovarian, or prostate cancer populations in academically affiliated clinics. Further research should evaluate post-test services and equitable implementation in broader settings.