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.

IF 3.5 2区 医学 Q2 GENETICS & HEREDITY
Bethany Torr, Grace Kavanaugh, Monica Hamill, Christopher Jones, Helena Harder, Sophie Allen, Alice Garrett, Subin Choi, Rosalind Way, Rochelle Gold, Amy Taylor, Rhian Gabe, Anneke Lucassen, Ranjit Manchanda, Angela George, Michael Hubank, Stephen Bremner, Ashu Gandhi, Zoe Kemp, D Gareth Evans, Lesley Fallowfield, Valerie Jenkins, Clare Turnbull
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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.

BRCA- direct数字途径中用于乳腺癌患者主流BRCA检测的遗传咨询电话热线的吸收、效用和资源需求
背景:我们试验了首个数字途径(BRCA- direct),旨在提高英国乳腺肿瘤服务中主流BRCA检测的能力。患者接受标准化的数字测试前信息,唾液采样和同意测试在家中完成。对于个性化的支持,我们提供了通过电话热线(TH)获得临床遗传学专业人员的机会。方法:为了评估TH的利用、吸收和资源需求,我们分析了BRCA-DIRECT研究中记录的结构化呼叫日志数据。混合方法分析包括将来自呼叫记录和患者人口统计的定量数据与确定呼叫原因的自由文本笔记的专题分析相结合。从结构化电话访谈中分析了其他数据。结果:共收到201/1140例(17.6%)患者来电。我们发现84.6%的电话(274个电话,1097分钟)只涉及“行政”支持需求。其余15.4%需要临床遗传学专业人员(50个电话,344分钟)。在收到的临床呼叫中:26.0%是在测试同意之前拨打的,36.0%是在等待结果时拨打的,38.0%是在结果后拨打的,呼叫长度的中位数(四分位数间隔)为8(4-10)分钟;5.5(4-10)分钟;5(3-7)分钟。在所有1140例患者中,每位患者平均需要0.3分钟的临床时间。结论:我们的研究结果表明,标准化信息提供的“BRCA-DIRECT”模式服务于大多数患者,少数患者使用帮助热线获取补充临床信息或支持。每位患者对临床时间的适度要求支持该模型在英国肿瘤服务中扩展主流基因检测的可扩展性。
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来源期刊
Journal of Medical Genetics
Journal of Medical Genetics 医学-遗传学
CiteScore
7.60
自引率
2.50%
发文量
92
审稿时长
4-8 weeks
期刊介绍: Journal of Medical Genetics is a leading international peer-reviewed journal covering original research in human genetics, including reviews of and opinion on the latest developments. Articles cover the molecular basis of human disease including germline cancer genetics, clinical manifestations of genetic disorders, applications of molecular genetics to medical practice and the systematic evaluation of such applications worldwide.
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