BRCA-DIRECT digital pathway for diagnostic germline genetic testing within a UK breast oncology setting: a randomised, non-inferiority trial.
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Authors
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
Bremner, S
Turnbull, C
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
Bremner, S
Turnbull, C
Document Type
Journal Article
Date
2024-11-16
Date Accepted
2024-08-09
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).
Citation
British Journal of Cancer,
DOI
Source Title
British Journal of Cancer
Publisher
SPRINGERNATURE
ISSN
0007-0920
eISSN
1532-1827
1532-1827
1532-1827
Collections
Research Team
Translational Genetics