Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre and The Royal Melbourne Hospital, Parkville, VIC, Australia.
Department of Medicine, University of Melbourne, The Royal Melbourne Hospital, Parkville, VIC, Australia.
Eur J Hum Genet. 2021 May;29(5):872-880. doi: 10.1038/s41431-021-00848-3. Epub 2021 Mar 15.
The demand for genetic testing of hereditary breast cancer genes such as BRCA1 and BRCA2 has continued to increase with the lowering costs of testing, raised awareness in the general public, and implications for breast cancer treatment when a patient is identified as having a germline pathogenic variant. Historically within Australia, patients affected by high genetic risk breast cancers have been referred to a familial cancer centre (FCC) for assessment and testing, resulting in wait times for an appointment for pre- and post-test genetic counselling and an increased demand on the public-funded FCC. To improve patient access and pace of genetic testing, as well as refocus FCC resources, a mainstream clinical genetic testing program was rolled out in September 2017 through the Parkville FCC (PFCC) in Australia at 10 hospital sites. This program enables specialist doctors of eligible patients affected by breast cancer to arrange genetic testing directly at an oncology/surgical appointment and follow up the results as part of the patients' routine clinical care. In this model, the specialist doctor is responsible for any treatment implications of the genetic test result, and the PFCC is responsible for result interpretation, future cancer risk, family cascade testing and segregation testing where warranted. To date the program has had successful uptake, a notable pathogenic variant detection rate, reduced the burden on the PFCC enabling a reallocation of resources and has streamlined the process of genetic testing for eligible patients. Investigation into the patient and clinician experiences of the mainstream program is required.
随着检测成本的降低、公众意识的提高,以及当患者被确定携带种系致病性变异时对乳腺癌治疗的影响,对遗传性乳腺癌基因(如 BRCA1 和 BRCA2)的基因检测需求持续增加。在澳大利亚,历史上患有高遗传风险乳腺癌的患者已被转介到家族癌症中心(FCC)进行评估和检测,这导致了预约进行预测试和后测试遗传咨询的等待时间延长,并且对公共资助的 FCC 的需求增加。为了改善患者的就诊机会和基因检测速度,并重新调整 FCC 的资源,2017 年 9 月,澳大利亚帕克维尔 FCC(PFCC)在 10 家医院推出了主流临床基因检测计划。该计划使符合条件的乳腺癌患者的专科医生能够在肿瘤/外科就诊时直接安排基因检测,并将结果作为患者常规临床护理的一部分进行跟进。在这种模式下,专科医生负责基因检测结果的任何治疗影响,而 PFCC 负责结果解释、未来癌症风险、家族级联测试和有必要时的分离测试。迄今为止,该计划的参与率很高,检测出了显著的致病性变异率,减轻了 PFCC 的负担,从而能够重新分配资源,并简化了符合条件的患者的基因检测流程。需要调查该主流计划的患者和临床医生的体验。