Implementation of mainstream BRCA testing in epithelial ovarian cancer in a tertiary centre
Implementation of mainstream BRCA testing in epithelial ovarian cancer in a tertiary centre
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三级中心上皮性卵巢癌主流BRCA检测的实施
DOI：
10.1093/annonc/mdz426.010
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发表时间：
2019
影响因子：
50.5
通讯作者：
R. Stephens
中科院分区：
文献类型：
--
作者：
E. Wong;K. Chrystal;M. Wilson;L. Wilson;C. Forgeng;K. Gamet;R. Stephens
摘要背景文献报道，尽管对治疗和预防癌症有影响，但少数患有上皮性卵巢癌（EOC）的女性仍被推荐进行种系BRCA检测。主流检测是由医学肿瘤学服务部门进行的BRCA检测，而不是临床遗传学检测；并于2017年在奥克兰医院推出。本研究评估了在多文化高等教育中心实施主流化是否增加了BRCA检测的吸收和及时性。方法回顾性分析肿瘤内科门诊高级别非黏液性EOC患者在引入主流检测前后的临床资料。BRCA检测的资格包括上述诊断≤70岁（引入主流后由内科肿瘤学检测）和bbb70岁且有个人和/或相关家族史的患者（通过遗传学检测）。主要结果是接受BRCA检测的合格患者的比例。次要结果是获得BRCA检测结果的时间。结果符合条件的女性生殖系BRCA突变检测比例显著增加（表）。改进是由于通过主流化增加了测试；通过基因服务进行检测的女性比例没有变化。检测效率也有所提高；在主流化前后，从遗传学转诊到获得BRCA检测结果的中位时间分别为146天（37至1599天）和64天（34至471天）。总体而言，14.9%的女性有种系brca1或2突变。表格。主流化前主流化后主流化P值符合主流化* 108/177(61.0%)37/40(92.5%)0.0001 >70岁+个人/家族史** 10/15(66.7%)7/9(77.8%)0.6687总体118/192(61.5%)44/49(89.8%)0.0001 *主流化前，患者通过遗传学检测；后主流化，在肿瘤医学诊所测试。**遗传学测试。结论：生殖系BRCA突变的主流检测提高了EOC女性的质量和及时性。检测的效率将具有重要的治疗意义。负责这项研究的法律实体奥克兰区卫生局。资助奥克兰地区卫生局。所有作者均声明无利益冲突。
Abstract Background The literature reports that a minority of women with epithelial ovarian cancer (EOC) are referred for germline BRCA testing despite implications for treatment and cancer prevention. Mainstream testing is BRCA testing undertaken by the Medical Oncology service, rather than clinical genetics; and it was introduced at Auckland Hospital in 2017. This study assessed whether the implementation of mainstreaming increased the uptake and timeliness of BRCA testing in a multi-cultural tertiary centre. Methods A retrospective analysis of women with high grade non-mucinous EOC attending Medical Oncology clinic was performed prior to and after the introduction of mainstream testing. Eligibility for BRCA testing included those with the above diagnosis ≤ 70 years (tested by Medical Oncology after mainstreaming introduced) and patients > 70 years with a personal and/or relevant family history (tested by genetics). The primary outcome was the proportion of eligible patients who underwent BRCA testing. A secondary outcome was the time to the availability of the BRCA test result. Results The proportion of eligible women tested for germline BRCA mutations significantly increased (Table). The improvement was due to increased testing via mainstreaming; there was no change in the proportion of women tested through the Genetics service. Efficiency of testing also improved; the median time from Genetics referral to an available BRCA result was 146 days (range 37 to 1599 days) and from Medical Oncology assessment to BRCA test result 64 days (range 34 to 471 days) before and after mainstreaming respectively. Overall, 14.9% of women had germline BRCA 1 or 2 mutations. Table . 234P Pre- mainstreaming Post- mainstreaming P value Eligible for mainstreaming * 108/177 (61.0%) 37/40 (92.5%) 0.0001 >70 years + personal/ family history ** 10/15 (66.7%) 7/9 (77.8%) 0.6687 Overall 118/192 (61.5%) 44/49 (89.8%) 0.0001 * Pre-mainstreaming, patients tested by Genetics; post-mainstreaming, tested in Medical Oncology clinic. ** Tested by Genetics. Conclusions Mainstream testing for germline BRCA mutations improved quality – access and timeliness – for women with EOC. Efficiency of testing will have important therapeutic implications. Legal entity responsible for the study Auckland District Health Board. Funding Auckland District Health Board. Disclosure All authors have declared no conflicts of interest.