In an editorial in a recent issue of Journal of Clinical Oncology, Kevin Hughes¹ provides the rationale for expanding genetic testing for BRCA1 and BRCA2 to a much greater number of women than are currently eligible and discusses the potential benefit of introducing population-based genetic testing. The editorial is a commentary on the article by Childers et al,² who provide data to show that, among women in North America with a BRCA1 or BRCA2 mutation, only a small proportion are currently being tested and that we have failed to achieve the potential for cancer prevention through genetic medicine. This is in large part a result of systemic barriers in place, such as an elaborate referral and triage mechanism required for test approval if third-party reimbursement is to be obtained. In particular, the requirement of in-person pretest genetic counseling is restrictive. The argument for widespread testing made by Hughes¹ is convincing to us, and we at Women’s College Hospital introduced in 2017 a population-based genetic testing program for all Canadians older than age 18 years, regardless of personal or family history of cancer. We have previously conducted trials of population-based testing in Jewish women³ and in Polish women,⁴ but we now offer the testing unrestricted throughout Canada. The Screen Project offers Internet-based genetic testing using a shipped saliva specimen in collaboration with Veritas Genetics (Danvers, MA).⁵ We have deliberately chosen to restrict testing to BRCA1 and BRCA2 because it is relatively easy to distinguish a deleterious mutation from a variant of unknown significance for these two genes and there is wealth of evidence to support personalized management in the preventive and treatment arenas. The cost of the test is US $165 and frees our client from the burden of seeking reimbursement. Pretest counseling is Web-based, but each carrier identified is informed by our genetic counselor and is offered an in-person counseling session in Toronto or locally (we call this the guided direct-to-consumer approach). We are concerned that by making multigene panel testing the standard of care, counselors will be inundated with requests to interpret variants of uncertain significance for genes not well studied and we will lose sight of the goal of offering a test that provides meaningful and clear data and that can be used to lessen the burden of cancer in Canada.

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BRCA1和BRCA2的基于人群的遗传测试

在最近一期的《临床肿瘤学杂志》上的社论中，凯文·休斯（Kevin Hughes）¹提供了将BRCA1和BRCA2的基因检测扩展到比目前有资格的女性更多的理由，并讨论了引入基于人群的基因检测的潜在好处。 。社论是对Childers等[ ^2]文章的评论，该文章提供的数据表明，在拥有BRCA1的北美女性中或BRCA2突变，目前只有一小部分正在接受测试，并且我们未能通过基因医学实现癌症预防的潜力。这在很大程度上是系统性障碍的结果，例如，如果要获得第三方报销，则需要复杂的推荐和分类机制来进行测试批准。特别是，面对面的测试前遗传咨询的要求是限制性的。休斯¹（Hughes ¹）进行广泛测试的论据令人信服，我们女子大学医院于2017年推出了一项针对所有18岁以上加拿大人的基于人群的基因测试计划，无论其个人或家族癌症史如何。我们之前曾在犹太妇女中进行过基于人群的测试³在波兰的女性中为^4，但我们现在提供在整个加拿大不受限制的测试。Screen Project与Veritas Genetics（马萨诸塞州丹佛斯）合作，使用运送的唾液标本提供了基于Internet的基因测试。⁵我们故意选择将测试限制为BRCA1和BRCA2因为相对容易将有害突变与这两个基因的未知意义变异区分开来，并且有大量证据支持在预防和治疗领域进行个性化管理。测试费用为165美元，使我们的客户摆脱了寻求退款的负担。测验前咨询是基于Web的，但是所确定的每个携带者都将由我们的遗传咨询师告知，并在多伦多或本地进行亲自咨询（我们将其称为直接面向消费者的方法）。我们担心通过使多基因面板测试成为护理标准，