Journal of medical genetics · 2025
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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Torr Bethany, Kavanaugh Grace, Hamill Monica, Jones Christopher, Harder Helena, Allen Sophie, Garrett Alice, Choi Subin, Way Rosalind, Gold Rochelle, Taylor Amy, Gabe Rhian, Lucassen Anneke, Manchanda Ranjit, George Angela, Hubank Michael, Bremner Stephen, Gandhi Ashu, Kemp Zoe, Evans D Gareth, Fallowfield Lesley, Jenkins Valerie, Turnbull Clare
Аннотация
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.
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.