jmg-2022-108655.full.pdf (2.79 MB)
A digital pathway for genetic testing in UK NHS cancer patients: BRCA-DIRECT randomised study internal pilot
Version 2 2023-06-07, 08:57
Version 1 2023-06-07, 07:55
journal contribution
posted on 2023-06-07, 08:57 authored by B Torr, Chris JonesChris Jones, S Choi, S Allen, G Kavanaugh, A Garrett, S MacMahon, L Loong, A Reay, L Yuan, M Valganon Petrizan, K Monson, N Perry, Lesley FallowfieldLesley Fallowfield, Valerie JenkinsValerie Jenkins, R Gold, A Taylor, R Gabe, J Wiggins, A Lucassen, R Manchanda, A Gandhi, A George, M Hubank, Z Kemp, DG Evans, Stephen BremnerStephen Bremner, C TurnbullBackground 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.
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- Published
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- Published version
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Journal of Medical GeneticsISSN
0022-2593Publisher
BMJExternal DOI
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1-10Department affiliated with
- Sussex Health Outcomes Research & Education in Cancer (SHORE-C) Publications
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- Yes
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- Yes
Legacy Posted Date
2022-07-05First Open Access (FOA) Date
2022-07-05First Compliant Deposit (FCD) Date
2022-07-05Usage metrics
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