JCO oncology practice · 2026
Video Education With Clinical Genetic Testing Coordinators for the Rapid Evaluation of Patients With Cancers: Real-World Evidence.
СтатьяНазвание и аннотация: Перевод пока не подготовлен
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Stopfer Jill E, Horiguchi Miki, Chittenden Anu, Tso Carmen G, Cahill Sophie R, Buehler Ryan M, D'Atri Audrey K, Garber Judy E, Rana Huma Q
Аннотация
PURPOSE: Germline genetic testing is critical for guiding cancer treatment, identifying hereditary syndromes, and enabling cascade testing for at-risk relatives. However, barriers such as limited access to genetic counselors and long wait times may hinder its implementation. This study evaluates the Rapid Access Cancer Genetic Testing Program (Rapid), a streamlined workflow incorporating a pretest video education (VE) process navigation by genetic testing coordinators (GTCs), and targeted involvement of genetic counselors and physicians for patients with pathogenic or likely pathogenic (P/LP) results.
METHODS: A retrospective review of 2,767 oncology patients who participated in Rapid between May 2021 and May 2023 was conducted. Eligible patients had breast, prostate, pancreatic, ovarian, or colorectal cancer and met National Comprehensive Cancer Network testing guidelines. Rapid visits included VE, pedigree collection, consenting, and genetic testing coordination by GTCs. Patients with P/LP results were seen for follow-up by genetic counselors and cancer genetics physicians.
RESULTS: Of the 2,767 patients, 89.1% consented to genetic testing, and 87.9% completed testing. Among those tested, 13.2% had P/LP variants, with those in BRCA2, BRCA1, and CHEK2 being the most frequently identified. Disparities in testing completion were observed, with older age (≥50 years), Black or African American race, and pancreatic cancer diagnosis associated with lower odds of testing. Pancreatic and prostate cancer diagnoses, as well as recessive genetic findings, were associated with lower follow-up rates.
CONCLUSION: Rapid demonstrated high genetic testing uptake and effective integration into oncology workflows, enabling timely treatment decisions. Although the program optimized resource use and reduced barriers, disparities in testing remain. Future efforts should address these inequities and evaluate the long-term impact of genetic testing on patient outcomes.
METHODS: A retrospective review of 2,767 oncology patients who participated in Rapid between May 2021 and May 2023 was conducted. Eligible patients had breast, prostate, pancreatic, ovarian, or colorectal cancer and met National Comprehensive Cancer Network testing guidelines. Rapid visits included VE, pedigree collection, consenting, and genetic testing coordination by GTCs. Patients with P/LP results were seen for follow-up by genetic counselors and cancer genetics physicians.
RESULTS: Of the 2,767 patients, 89.1% consented to genetic testing, and 87.9% completed testing. Among those tested, 13.2% had P/LP variants, with those in BRCA2, BRCA1, and CHEK2 being the most frequently identified. Disparities in testing completion were observed, with older age (≥50 years), Black or African American race, and pancreatic cancer diagnosis associated with lower odds of testing. Pancreatic and prostate cancer diagnoses, as well as recessive genetic findings, were associated with lower follow-up rates.
CONCLUSION: Rapid demonstrated high genetic testing uptake and effective integration into oncology workflows, enabling timely treatment decisions. Although the program optimized resource use and reduced barriers, disparities in testing remain. Future efforts should address these inequities and evaluate the long-term impact of genetic testing on patient outcomes.