基因检测结果呈阴性？这可能是“虚假的安慰”（双语）

　　随着医疗技术的发展，越来越多的公司开展了基因检测项目，通过分析受试者提供的生物学样本，检测其基因变异，分析未来患上某种疾病的几率。但最新研究指出，即使检测结果呈阴性，人们也不能完全放松警惕，因为这可能是“虚假的安慰”。

　　Consumer genetic tests could be giving false reassurance to those at heightened risk of cancers, according to findings presented at an international conference last week.

　　上周一次国际会议上公布的研究结果显示，消费者基因测试可能会给那些癌症风险更高的人带来虚假的安慰。

　　The study, by clinical genetic testing company Invitae, revealed that tests for breast and bowel cancer risk by direct-to-consumer companies such as 23andMe give negative results to the vast majority of those carrying DNA mutations in the genes under investigation.

　　这项由临床基因检测公司Invitae开展的研究显示，23andMe等直接面向消费者的公司对乳腺癌和肠癌风险的检测显示，绝大多数携带受测基因DNA突变的人检测结果都是阴性的。

　　“These tests should not be taken at face value at all, whether they are positive or negative,” said Edward Esplin from Invitae ahead of the annual meeting of the American Society of Human Genetics in Houston, Texas.

　　在美国人类遗传学学会于德克萨斯州休斯顿召开年度会议之前，来自Invitae的爱德华·埃斯普林说：“这些检测不应该只看表面价值，无论检测结果是阳性还是阴性。”

　　face value：表面价值

　　“The data really underscores that there needs to be increased awareness that results from this type of screening may not be wrong but they’re woefully incomplete.”

　　“研究数据强调的是，人们需要认识到，这种检测的结果可能不会是错误的，但遗憾的是，它们是不完整的。”

　　woefully [ˈwəʊfəli]：adv.悲伤地;不幸地

　　The research also showed that those from Asian and African-American backgrounds were more likely to carry mutations that were not designed to be detected by the consumer tests.

　　这项研究还表明，有亚裔和非洲裔血统的美国人更有可能携带突变基因，而消费者测试无法检测到这些突变基因。

　　The research focused on DNA-based tests relating to breast, ovarian and bowel cancer that were recently approved by the US Food and Drug Administration.

　　这项研究的重点是美国食品和药物管理局(FDA)最近批准的与乳腺癌、卵巢癌和肠癌相关的DNA检测。

　　The tests operate by a subject sending a DNA swab in the post for analysis and then receiving results with information about how their genetics could influence their health.

　　测试是这样进行的：受试者寄送DNA样本用于分析，然后收到有关基因对健康影响的检测结果。

　　In the case of breast and ovarian cancer, the FDA has approved a screening test for three specific mutations on the BRCA1 and BRCA2 genes, which are most common in people of Ashkenazi Jewish heritage. However, these mutations are rare in people from other backgrounds.

　　就乳腺癌和卵巢癌而言，FDA已经批准了一项针对BRCA1和BRCA2基因三种特定突变的筛查测试，这两种突变在德系犹太人中最为常见。然而，这些突变在其他血统的人身上很少见。

　　Ashkenazi[ˌæʃkəˈnɑːzi]：n.德系犹太人

　　Similarly, for bowel cancer, 23andMe offers FDA-authorised tests for two mutations, which are most common among individuals of northern European ancestry. The company explains the limitations of these tests to consumers and on its website.

　　类似地，对于肠癌，23andMe公司提供FDA授权的两种基因突变检测，这在北欧血统的人中最为常见。该公司在其网站上向消费者解释了这些测试的局限性。

　　Esplin said that despite this, consumers could be wrongly reassured by a negative result.

　　埃斯普林表示，尽管如此，消费者仍可能被阴性结果错误地打消疑虑。

　　The study analysed the DNA of 270,806 patients who had been referred by healthcare providers for testing of the MUTYH gene, and 119,328 who had been referred for BRCA1/2 genetic testing.

　　这项研究分析了270806名被医疗机构推荐进行MUTYH基因检测患者的DNA，以及119328名被推荐进行BRCA1/2基因检测患者的DNA。

　　It showed that for both tests, the majority of those carrying mutations would not be spotted, which Invitae describes as a “clinical false-negative result”.

　　结果显示，在这两种检测中，大多数携带突变的人都没有被发现，Invitae将其描述为“临床假阴性结果”。