St George's University of London, London, UK.
Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.
Br J Cancer. 2024 Jun;130(12):2027-2036. doi: 10.1038/s41416-024-02733-4. Epub 2024 Jun 4.
The CanRisk tool, which operationalises the Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) is used by Clinical Geneticists, Genetic Counsellors, Breast Oncologists, Surgeons and Family History Nurses for breast cancer risk assessments both nationally and internationally. There are currently no guidelines with respect to the day-to-day clinical application of CanRisk and differing inputs to the model can result in different recommendations for practice.
To address this gap, the UK Cancer Genetics Group in collaboration with the Association of Breast Surgery and the CanGene-CanVar programme held a workshop on 16 of May 2023, with the aim of establishing best practice guidelines.
Using a pre-workshop survey followed by structured discussion and in-meeting polling, we achieved consensus for UK best practice in use of CanRisk in making recommendations for breast cancer surveillance, eligibility for genetic testing and the input of available information to undertake an individualised risk assessment.
Whilst consensus recommendations were achieved, the meeting highlighted some of the barriers limiting the use of CanRisk in clinical practice and identified areas that require further work and collaboration with relevant national bodies and policy makers to incorporate wider use of CanRisk into routine breast cancer risk assessments.
CanRisk 工具可用于乳腺癌和卵巢疾病发生率和携带者评估算法(BOADICEA),临床遗传学家、遗传咨询师、乳腺肿瘤学家、外科医生和家族史护士可用于全国和国际范围内的乳腺癌风险评估。目前,尚无关于 CanRisk 日常临床应用的指南,并且模型的不同输入可能导致不同的实践建议。
为了解决这一差距,英国癌症遗传学组与乳腺外科协会和 CanGene-CanVar 项目合作,于 2023 年 5 月 16 日举办了一次研讨会,旨在制定最佳实践指南。
通过会前调查、结构化讨论和会议中的投票,我们就使用 CanRisk 进行乳腺癌监测、基因检测资格以及可用信息输入以进行个体化风险评估的建议方面达成了英国最佳实践的共识。
尽管达成了共识建议,但会议强调了一些限制 CanRisk 在临床实践中使用的障碍,并确定了需要进一步研究和与相关国家机构和政策制定者合作的领域,以将 CanRisk 更广泛地纳入常规乳腺癌风险评估。