Uptake, utility and resource requirements of a genetic counselling telephone helpline within the BRCA-DIRECT digital pathway for mainstreamed BRCA testing in patients with breast cancer.
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Authors
Torr, B
Kavanaugh, G
Hamill, M
Jones, C
Harder, H
Allen, S
Garrett, A
Choi, S
Way, R
Gold, R
Taylor, A
Gabe, R
Lucassen, A
Manchanda, R
George, A
Hubank, M
Bremner, S
Gandhi, A
Kemp, Z
Evans, DG
Fallowfield, L
Jenkins, V
Turnbull, C
Kavanaugh, G
Hamill, M
Jones, C
Harder, H
Allen, S
Garrett, A
Choi, S
Way, R
Gold, R
Taylor, A
Gabe, R
Lucassen, A
Manchanda, R
George, A
Hubank, M
Bremner, S
Gandhi, A
Kemp, Z
Evans, DG
Fallowfield, L
Jenkins, V
Turnbull, C
Document Type
Journal Article
Date
2025-04-17
Date Accepted
2025-02-15
Abstract
BACKGROUND: We trialled the first digital pathway (BRCA-DIRECT) aiming to improve capacity for mainstreamed BRCA testing within UK breast oncology services. Patients received standardised digital pretest information, with saliva sampling and consent to testing completed at home. For individualised support, we offered access to a clinical genetics professional via a telephone helpline (TH). METHODS: To evaluate the utilisation, uptake and resource requirements for provision of the TH, we analysed data from structured call logs recorded in the BRCA-DIRECT Study. Mixed-methods analysis included combining quantitative data from call logs and patient demographics with thematic analysis of free-text notes establishing reasons for calls. Additional data were analysed from structured telephone interviews. RESULTS: Calls were received from 201/1140 (17.6%) patients. We identified that 84.6% of calls (274 calls, 1097 min) pertained to 'administrative' support needs only. The remaining 15.4% required a clinical genetics professional (50 calls, 344 min). Of the clinical calls received: 26.0% were placed prior to test consent, 36.0% while awaiting results and 38.0% post results, with median (interquartile) call lengths of 8 (4-10) min; 5.5 (4-10) min; and 5 (3-7) min, respectively. Across all 1140 patients, a mean of 0.3 min of clinical time was required per patient. CONCLUSIONS: Our findings demonstrate that the 'BRCA-DIRECT' model of standardised information provision served most patients, with a minority using the helpline for supplementary clinical information or support. The modest per-patient requirement for clinical time supports the scalability of this model for expanding mainstream genetic testing within UK oncology services.
Citation
Journal of Medical Genetics, 2025, pp. jmg-2024-110428 -
Source Title
Journal of Medical Genetics
Publisher
BMJ PUBLISHING GROUP
ISSN
0022-2593
eISSN
1468-6244
Collections
Research Team
Translational Genetics