A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot.
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Authors
Torr, B
Jones, C
Choi, S
Allen, S
Kavanaugh, G
Hamill, M
Garrett, A
MacMahon, S
Loong, L
Reay, A
Yuan, L
Valganon Petrizan, M
Monson, K
Perry, N
Fallowfield, L
Jenkins, V
Gold, R
Taylor, A
Gabe, R
Wiggins, J
Lucassen, A
Manchanda, R
Gandhi, A
George, A
Hubank, M
Kemp, Z
Evans, DG
Bremner, S
Turnbull, C
Jones, C
Choi, S
Allen, S
Kavanaugh, G
Hamill, M
Garrett, A
MacMahon, S
Loong, L
Reay, A
Yuan, L
Valganon Petrizan, M
Monson, K
Perry, N
Fallowfield, L
Jenkins, V
Gold, R
Taylor, A
Gabe, R
Wiggins, J
Lucassen, A
Manchanda, R
Gandhi, A
George, A
Hubank, M
Kemp, Z
Evans, DG
Bremner, S
Turnbull, C
Document Type
Journal Article
Date
2022-07-22
Date Accepted
2022-07-03
Abstract
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.
Citation
Journal of Medical Genetics, 2022, pp. jmedgenet-2022-108655 -
Source Title
Journal of Medical Genetics
Publisher
BMJ PUBLISHING GROUP
ISSN
0022-2593
eISSN
1468-6244
1468-6244
1468-6244
Collections
Research Team
Translational Genetics