PT - JOURNAL ARTICLE AU - Bethany Torr AU - Christopher Jones AU - Subin Choi AU - Sophie Allen AU - Grace Kavanaugh AU - Monica Hamill AU - Alice Garrett AU - Suzanne MacMahon AU - Lucy Loong AU - Alistair Reay AU - Lina Yuan AU - Mikel Valganon Petrizan AU - Kathryn Monson AU - Nicky Perry AU - Lesley Fallowfield AU - Valerie Jenkins AU - Rochelle Gold AU - Amy Taylor AU - Rhian Gabe AU - Jennifer Wiggins AU - Anneke Lucassen AU - Ranjit Manchanda AU - Ashu Gandhi AU - Angela George AU - Michael Hubank AU - Zoe Kemp AU - D Gareth Evans AU - Stephen Bremner AU - Clare Turnbull TI - A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot AID - 10.1136/jmg-2022-108655 DP - 2022 Dec 01 TA - Journal of Medical Genetics PG - 1179--1188 VI - 59 IP - 12 4099 - http://jmg.bmj.com/content/59/12/1179.short 4100 - http://jmg.bmj.com/content/59/12/1179.full SO - J Med Genet2022 Dec 01; 59 AB - 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 patients with breast cancer and gathered preliminary data from a randomised comparison of delivery of pretest 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 indicate 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.Trial registration number ISRCTN87845055.Data are available on reasonable request. Data from this study are not publicly available due to inclusion of special category and sensitive data. Data access requests can be made to the corresponding author for consideration.