Parkville Familial Cancer Centre, The Royal Melbourne Hospital and Peter MacCallum Cancer Centre, Grattan Street, Parkville, Victoria 3050, Australia; Gynaecology Oncology and Dysplasia Units, The Royal Women's Hospital, Flemington Road, Parkville, Victoria 3052, Australia.
Parkville Familial Cancer Centre, The Royal Melbourne Hospital and Peter MacCallum Cancer Centre, Grattan Street, Parkville, Victoria 3050, Australia.
Gynecol Oncol. 2017 Apr;145(1):130-136. doi: 10.1016/j.ygyno.2017.01.030. Epub 2017 Feb 3.
Owing to the rapid increase in clinical need, we aimed to implement and review the performance of a mainstreaming model of germline BRCA1/2 genetic testing in eligible women with high grade non-mucinous epithelial ovarian cancer via a Genetic Counselor embedded in the gynecology oncology clinic.
The model implemented involved a specialized referral form, weekly genetics-lead multidisciplinary review of referrals, and pre- and post-test genetic counseling provided by an embedded genetic counselor during chemotherapy chair time. Performance and outcomes were retrospectively audited over the following two consecutive one year periods, including survey data on medical specialist comfort with mainstreaming and the model.
Sixty-four women underwent mainstreamed BRCA1/2 testing over the two year post-implementation period with a rate of detection of BRCA1/2 pathogenic variants of 17%. The referral rate for eligible women significantly increased to over 90% (p<0.001). The median time from referral to delivery of genetic testing results was less than five months, with >90% of patients receiving results during first line chemotherapy. Genetic counseling time decreased from 120 to 54min. Cancer specialists were comfortable with the model.
The mainstreaming model proved effective, increasing uptake of genetic testing in eligible patients to over 90%; it was efficient for patients, genetic counselors and cancer specialists and acceptable to cancer specialists. It facilitated co-location of genetic and oncology service delivery but separation of clinical responsibility for genetic testing to a specialist genetics service, ensuring accurate and robust patient-centred care.
由于临床需求的迅速增加，我们旨在通过在妇科肿瘤诊所中嵌入遗传咨询师，实施并审查在高级非黏液性上皮性卵巢癌的符合条件的女性中进行种系 BRCA1/2 基因检测的主流化模式的表现。
实施的模型涉及专门的转诊表、每周由遗传学主导的转诊多学科审查，以及在化疗椅时间期间由嵌入遗传咨询师提供的预测试和后测试遗传咨询。在接下来的两个连续一年期间，对性能和结果进行了回顾性审核，包括关于医学专家对主流化和模型的舒适度的调查数据。
在实施后的两年中，有 64 名女性接受了主流化的 BRCA1/2 检测，BRCA1/2 致病性变异的检出率为 17%。符合条件的女性的转诊率显著增加到 90%以上（p<0.001）。从转诊到基因检测结果交付的中位数时间不到五个月，超过 90%的患者在一线化疗期间收到了结果。遗传咨询时间从 120 分钟减少到 54 分钟。癌症专家对该模型感到满意。
主流化模型被证明是有效的，将符合条件的患者的基因检测率提高到 90%以上；对患者、遗传咨询师和癌症专家来说是高效的，并且被癌症专家接受。它促进了遗传和肿瘤服务的协同提供，但将基因检测的临床责任分离给专业的遗传服务，确保了以患者为中心的准确和稳健的护理。
