Abstract
<b>Objectives:</b> Despite established National Comprehensive Cancer Network (NCCN) guidelines for hereditary cancer testing, underrepresented minorities (URM) are under-tested. While testing rates have improved for those with personal cancer diagnoses, they remain low for those with pertinent family history. The standardization of hereditary cancer risk assessment (HCRA) at routine health visits in unaffected individuals is critical to cancer prevention. We sought to evaluate the impact of implementing an original HCRA tool in women's health clinics, along with a genetic testing program supported by a community health worker (CHW), in a large safety-net hospital serving >70% URM patients. <b>Methods:</b> Prior to January 2020, hereditary cancer risk screening, counseling, and testing were performed by routine clinical practice and by a single certified genetic counselor (CGC), respectively, at our institution. In January 2020, a pilot program was initiated in women's health clinics, in which original NCCN-based questionnaires were administered to women, and a CHW, working alongside a CGC and gynecologic oncologist, scored questionnaires and arranged indicated genetic counseling and testing. Patients were notified of results by a provider via telephone and offered post-test counseling with a CGC via telehealth. Data were collected prospectively. <b>Results:</b> In 18 months prior to the initiation of the HCRA program, 68 patients underwent genetic testing via a CGC, 51 (75%) with a personal history of cancer, and 17 (25%) of whom were unaffected but with pertinent positive family history. Pathogenic variants were identified in 16 (24%), of whom 13 (81%) had a personal cancer history. In the first 18 months of the CHW-based program, 73 patients were tested in the routine fashion by a CGC, 44 (60%) with personal cancer history and 29 (40%) based on family history. Pathogenic variants were identified in 16 (22%), 11 (69%) of whom had a personal cancer history. With the CHW-based program, an additional 88 patients have been tested: 28 (32%) based on personal history and 60 (68%) based on family history. Pathogenic variants were identified in ten patients (11%), one (10%) of whom had a personal cancer history. Since the inception of this program, there has been a 140% increase in tests completed and a doubling in testing performed for unaffected patients (25% vs 55%). This increased the pathogenic variant detection rate in unaffected women from 3% to 54%. <b>Conclusions:</b> This pilot program demonstrates the feasibility of a CHW-guided program, using self-administered HCRA questionnaires and telehealth-based testing, in primarily URM patients. This program improved the detection of unaffected high-risk women based on family history and preferentially increased the volume of genetic tests performed for this indication. Programs of this type may improve family history-based genetic testing in a URM population to implement cancer prevention strategies.
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