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

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.