BRCA-DIRECT digital pathway for diagnostic germline genetic testing within a UK breast oncology setting: a randomised, non-inferiority trial

Torr, B; Jones, C; Kavanaugh, G; Hamill, M; Allen, S; Choi, S; Garrett, A; Valganon-Petrizan, M; MacMahon, S; Yuan, L; Way, R; Harder, H; Gold, R; Taylor, A; Gabe, R; Lucassen, A; Manchanda, R; Fallowfield, L; Jenkins, V; Gandhi, A; Evans, DG; George, A; Hubank, M; Kemp, Z

Journal article

BRCA-DIRECT digital pathway for diagnostic germline genetic testing within a UK breast oncology setting: a randomised, non-inferiority trial

Abstract:: Background: Genetic testing to identify germline high-risk pathogenic variants in breast cancer susceptibility genes is increasingly part of the breast cancer diagnostic pathway. Novel patient-centred pathways may offer opportunity to expand capacity and reduce turnaround time. Methods: We recruited 1140 women with unselected breast cancer to undergo germline genetic testing through the BRCA-DIRECT pathway (which includes a digital platform, postal saliva sampling and a genetic counsellor telephone helpline). Ahead of consenting to the test, participants were randomised to receive information about genetic testing digitally (569/1140, 49.9%) or via a pre-test genetic counselling consultation (571/1140, 50.1%). Results: 1001 (87.8%) participants progressed to receive their pre-test information and consented to testing. The primary outcome, uptake of genetic testing, was higher amongst participants randomised to receive digital information compared with those randomised to a pre-test genetic counselling consultation (90.8% (95% CI: 88.5% to 93.1%) vs 84.7% (95% CI: 81.8% to 87.6%), p = 0.002, adjusted for participant age and site). Non-inferiority was observed in relation to patient knowledge, anxiety, and satisfaction. Conclusions: Findings demonstrate that standardised, digital information offers a non-inferior alternative to conventional genetic counselling, and an end-to-end patient-centred, digital pathway (supported by genetic counselling hotline) could feasibly be implemented into breast oncology settings. Clinical trial registration: The study is registered with, and protocol available on, ClinicalTrials.gov (NCT04842799).

Publication status:: Published

Peer review status:: Peer reviewed

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APA Style

Torr, B., Jones, C., Kavanaugh, G., Hamill, M., Allen, S., Choi, S., Garrett, A., Valganon-Petrizan, M., MacMahon, S., Yuan, L., Way, R., Harder, H., Gold, R., Taylor, A., Gabe, R., Lucassen, A., Manchanda, R., Fallowfield, L., Jenkins, V., … Kemp, Z. (2024). BRCA-DIRECT digital pathway for diagnostic germline genetic testing within a UK breast oncology setting: a randomised, non-inferiority trial. British Journal of Cancer, 131(9), 1506–1515.

MLA Style

Torr, B., et al. “BRCA-DIRECT Digital Pathway for Diagnostic Germline Genetic Testing within a UK Breast Oncology Setting: a Randomised, Non-Inferiority Trial.” British Journal of Cancer, vol. 131, no. 9, Springer Nature [academic journals on nature.com], 2024, pp. 1506–15.

Chicago Style

Torr, B, C Jones, G Kavanaugh, M Hamill, S Allen, S Choi, A Garrett, et al. 2024. “BRCA-DIRECT Digital Pathway for Diagnostic Germline Genetic Testing within a UK Breast Oncology Setting: a Randomised, Non-Inferiority Trial.” British Journal of Cancer 131 (9): 1506–15.
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