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

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2024年10月1日

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Bethany Torr,
Christopher Jones,
Grace Kavanaugh,
Monica Hamill,
Sophie Allen,
Subin Choi,
Alice Garrett,
Mikel Valganon-Petrizan,
Suzanne MacMahon,
Lina Yuan,
Rosalind Way,
Helena Harder,
Rochelle Gold,
Amy Taylor,
Rhian Gabe,
Anneke Lucassen,
Ranjit Manchanda,
Lesley Fallowfield,
Valerie Jenkins,
Ashu Gandhi,
D. Gareth Evans,
Angela George,
Michael Hubank,
Zoe Kemp,
Stephen Bremner,
Clare Turnbull

摘要

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).