Familial Cancer Clinic, University Health Network, 610 University Avenue, Toronto, ON M5G 2M9, Canada; Lawrence S Bloomberg Faculty of Nursing, University of Toronto, 155 College Street, Toronto, ON M5T 1P8, Canada.
Department of Molecular Genetics, University of Toronto, 27 King's College Circle, Toronto5, ON M5S 1A8, Canada; Division of Clinical Laboratory Medicine, University Health Network, 200 Elizabeth Street, Toronto, ON M5G 2C4, Canada.
Gynecol Oncol. 2020 Sep;158(3):747-753. doi: 10.1016/j.ygyno.2020.06.507. Epub 2020 Jul 14.
This study compares the rate and time to genetic referral, and patient uptake of germline genetic services, before and after implementation of reflex BRCA1/2 tumor testing for high-grade serous ovarian cancer (HGSOC) in a universal healthcare system.
A retrospective chart review of HSGOC patients diagnosed in the year before (PRE) and after (POST) implementation of reflex BRCA1/2 tumor testing was conducted. Clinical information (date/age at diagnosis, personal/family history of breast/ovarian cancer, cancer stage, primary treatment, tumor results) and dates of genetics referral, counseling, and germline testing were obtained. Incident rate ratios (IRR) and 95% CI were calculated using negative binomial regression. Time to referral was evaluated using Kaplan-Meier survival analysis. Fisher Exact tests were used to evaluate uptake of genetic services.
175 HGSOC patients were identified (81 PRE; 94 POST). Post-implementation of tumor testing, there was a higher rate of genetics referral (12.88 versus 7.10/1000 person-days; IRR = 1.60, 95% CI: 1.07-2.42) and a shorter median time from diagnosis to referral (59 days PRE, 33 days POST; p = .04). In the POST cohort, most patients were referred prior to receiving their tumor results (n = 63/77; 81.8%). Once referred, most patients attended genetic counseling (94.5% PRE, 97.6% POST; p = .418) and pursue germline testing (98.6% PRE; 100% POST; p = .455).
Following implementation of reflex BRCA1/2 tumor testing for HGSOC, significant improvements to the rate and time to genetics referral were identified. Additional studies are needed to evaluate physician referral practices and the long-term impact of reflex tumor testing.
本研究比较了在全民医疗保健系统中实施卵巢高级别浆液性癌(HGSOC)同源重组修复基因(BRCA1/2)肿瘤检测反射试验前后,基因咨询转诊的比例和时间,以及患者对种系基因检测服务的接受程度。
对实施反射性 BRCA1/2 肿瘤检测前(PRE)和后(POST)的 HSGOC 患者进行回顾性图表审查。获取临床信息(诊断时的日期/年龄、乳腺癌/卵巢癌个人/家族史、癌症分期、初始治疗、肿瘤结果)和基因咨询、咨询、种系检测的日期。使用负二项式回归计算发病率比值(IRR)和 95%置信区间。使用 Kaplan-Meier 生存分析评估转诊时间。Fisher 精确检验用于评估遗传服务的利用率。
共确定了 175 名 HGSOC 患者(81 名 PRE;94 名 POST)。在进行肿瘤检测后,基因咨询转诊的比例更高(12.88 比 7.10/1000人天;IRR=1.60,95%CI:1.07-2.42),从诊断到转诊的中位时间更短(59 天 PRE,33 天 POST;p=0.04)。在 POST 队列中,大多数患者在收到肿瘤结果之前就被转诊(n=63/77;81.8%)。一旦被转诊,大多数患者都接受了遗传咨询(94.5% PRE,97.6% POST;p=0.418)并接受了种系检测(98.6% PRE;100% POST;p=0.455)。
在实施 HGSOC 同源重组修复基因(BRCA1/2)肿瘤检测反射试验后,基因咨询转诊的比例和时间均有显著提高。需要进一步研究以评估医生转诊的实践和反射性肿瘤检测的长期影响。