基因检测结果呈阴性可能是虚假的安慰|必一运动·(B-Sports)官方网站

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发布的研究结果显示，消费者基因测试可能会给那些癌症风险更高的人带给欺诈的恳求。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积极开展的研究表明，23andMe等必要面向消费者的公司对乳腺癌和肠癌风险的检测表明，绝大多数装载受测基因DNA变异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开会年度会议之前，来自Invitae的爱德华·埃斯普林说道：“这些检测不应当只看表面价值，无论检测结果是阳性还是阴性。

”The data really underscores that there needs to be increased awareness that results from this type of screening may not be wrong but theyre woefully incomplete.“研究数据特别强调的是，人们必须认识到，这种检测的结果有可能会是错误的，但失望的是，它们是不原始的。”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.这项研究还指出，有亚裔和非洲裔血统的美国人更加有可能装载突变基因，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）最近批准后的与乳腺癌、卵巢癌和肠癌涉及的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.测试是这样展开的：受试者寄出DNA样本用作分析，然后接到有关基因对身体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早已批准后了一项针对BRCA1和BRCA2基因三种特定变异的筛查测试，这两种变异在德系犹太人中尤为少见。然而，这些变异在其他血统的人身上很少闻。

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.类似于地，对于肠癌，23andMe公司获取FDA许可的两种基因突变检测，这在北欧血统的人中尤为少见。该公司在其网站上向消费者说明了这些测试的局限性。Esplin said that despite this, consumers could be wrongly reassured by a negative result.埃斯普林回应，尽管如此，消费者仍有可能被阴性结果错误地萌生顾虑。

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名被医疗机构引荐展开MUTYH基因检测患者的DNA，以及119328名被引荐展开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，大多数装载变异的人都没被找到，Invitae将其叙述为“临床假阴性结果”。For MUYTH, 40% of individuals with mutations in both copies of their MUTYH genes – consistent with an almost 100% lifetime risk of bowel cancer – had different mutations to those screened for in the FDA-approved test. This figure rose to 100% for those from Asian backgrounds and 75% for African-Americans.对于MUYTH基因，在装载有两种MUTYH基因拷贝变异的人中，有40%的人的变异与FDA许可检测到的变异有所不同。这个数字在亚裔美国人中下降到100%，在非洲裔美国人中下降到75%。

装载有这两种基因突变的人一生中患有肠癌的风险完全是100%。For BRCA genes, 94% of non-Ashkenazi Jewish individuals and 19% of those of Ashkenazi heritage had a mutation that would be missed. Again, the figures were highest for those of Asian (98%) and African-American (99%) ancestry.对于BRCA基因，94%的非德系犹太人和19%的德系犹太人装载有可能被遗漏的基因突变。某种程度，亚裔（98%）和非裔（99%）的比例最低。

A clinical false-negative result can be incorrectly reassuring, excluding a patient from receiving the preventive care they need based on their risk, he added. It could be the difference between preventing cancer and developing cancer.他补足说道：“临床假阴性的结果有可能是误导性的恳求，使人们仍然拒绝接受必须基于风险而展开的预防性化疗。人们可能会患上原本可以防治的癌症。”In response to the findings, 23andMe said in a statement: The claims made by a competitor that we are returning clinical false negatives is incorrect and a false characterisation of 23andMes test. Our test is extremely accurate. As part of the FDA authorisation process weve demonstrated over 99% accuracy for the variants we test for in our health product.针对这些找到，23andMe在一份声明中回应：“竞争对手声称我们于是以将‘临床假阴性结果’撤回是假消息，其对本公司测试的特征描述也是错误的。

我们的测试十分精确。作为FDA许可检测过程的一部分，我们早已证明，我们的身体健康产品基因变异测试准确性多达99%。”The company said it makes clear to customers that it tests only for certain genetic variants and that customers should not forgo any recommended testing based on 23andMe results. 23andMe is not a diagnostic test, the company said. If an individual has a family history of cancer or other indications for clinical testing we always recommend consulting a healthcare provider first.该公司回应，已向客户具体回应，只检测某些基因变异，客户不不应退出任何基于23andMe结果的引荐检测。该公司回应：“这不是临床测试。

如果一个人有癌症家族史或其他临床检测的适应症，我们仍然建议首先咨询医疗机构。”Prof Anneke Lucassen, a clinical geneticist at the University of Southampton, said that, in her experience, non-specialists would be likely to wrongly interpret negative results as an all-clear.南安普顿大学临床遗传学家安妮克·卢卡森教授回应，根据她的经验，非专业人士很可能会错误地将阴性结果理解为“没风险”。I do think the false-negative rate is an issue, not necessarily through the companies fault but through low general awareness, she said. Most people who come to clinic ask: Have I got the gene for breast cancer? and imagine its a single test, not that the test involves looking through around 20,000 letters of the genetic code to see if any one of them might be different.她说道：“我显然指出假阴性亲率是个问题，这不一定是由于公司的犯规，而是由于人们的广泛意识不强劲。

大多数来医院的人会问：‘我有乳腺癌的基因吗？’想象一下，这是一个单一的测试，而不是通过检查约两万个基因序列编码来辨别哪些有所不同。

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