A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot

Journal article

Background Germline genetic testing affords multiple opportunities for women with breast cancer, however, current UK NHS models for delivery of germline genetic testing are clinician-intensive and only a minority of breast cancer cases access testing. Methods We designed a rapid, digital pathway, supported by a genetics specialist hotline, for delivery of germline testing of BRCA1/BRCA2/PALB2 (BRCA-testing), integrated into routine UK NHS breast cancer care. We piloted the pathway, as part of the larger BRCA-DIRECT study, in 130 unselected breast cancer patients and gathered preliminary data from a randomised comparison of delivery of pre-test information digitally (fully-digital pathway) or via telephone consultation with a genetics professional (partially-digital pathway). Results Uptake of genetic testing was 98.4%, with good satisfaction reported for both the fully- and partially-digital pathways. Similar outcomes were observed in both arms regarding patient knowledge score and anxiety, with <5% of patients contacting the genetics specialist hotline. All progression criteria established for continuation of the study were met. Conclusion Pilot data indicates preliminary demonstration of feasibility and acceptability of a fully digital pathway for BRCA-testing and support proceeding to a full powered study for evaluation of non-inferiority of the fully-digital pathway, detailed quantitative assessment of outcomes, and operational economic analyses

Authors: Torr, B; Jones, C; Choi, S; Allen, S; Kavanaugh, G

• Publication status: Published
• Peer review status: Peer reviewed
• Publisher: BMJ Publishing Group
• Journal: Journal of Medical Genetics
• Volume: 59
• Issue: 12
• Pages: 1179-1188
• Publication date: 2022-07-22
• Acceptance date: 2022-07-03
• DOI: 10.1136/jmg-2022-108655
• EISSN: 1468-6244
• ISSN: 0022-2593
• Language: English
• Keywords: Biology; Hotline; Medicine; PALB2; Genetics; Computer science; Mutation; Family medicine; Genetic counseling; Germline mutation; Genetic testing; Internal medicine; Breast cancer; Cancer; Oncology