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基因检测结果呈阴性可能是虚假的安慰
2021-02-16 [61026]

consumer genetic tests could be giving false reassurance to those at heightened risk of cancers,According to findings presented at an internate上周在国际会议上发表的研究结果显示,消费者基因测试可能会给癌症风险高的人带来欺诈的恳求。The study,by clinical genetic testing company invitae,Revealed that tests for breast and bowel cancer risk by direct-to-consumer companage临床基因检查公司Invitae积极进行的研究显示,23andMe等需要面向消费者的公司对乳腺癌和大肠癌风险的检查显示,测试基因DNA变异的人大多数是阴性。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“研究数据显示,人们应该意识到这项检查的结果可能是错误的,但令人失望的是它们并不原始。

”the research also showed that those from Asian and African-American backgrounds were more likely to carry mutations that were not designed to be该研究表明,拥有亚裔和非洲裔血统的美国人更有可能装载突变基因,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该研究重点是美国食品药品监督管理局(FDA)最近批准的与乳腺癌、卵巢癌和大肠癌相关的DNA检查,包括The Tests Operate by A subject sending A DNA Swab in The post for analysis and then receiving resusure测试是这样进行的。受试者发送DNA样本进行分析,然后接受了基因对身体健康影响的检查结果。

In the case of breast and ovarian cancer,the FDA has approved a screening test for three specific mutations on the brca 1 and brca 2 genes,Which乳腺癌和卵巢癌然而,这些突变在其他血统的人身上几乎听不见。Similarly,for bowelcancer,23 andme offers FDA-authorised tests for two mutations,Which are most common among individuals of non与土地一样,对肠癌,23andMe获得FDA许可的两种基因突变检查在北欧血统人群中尤为罕见。该公司在自己的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。

虽然埃斯弗林做出了回应,但消费者可能会对负面结果产生错误的担忧。The study analysed the DNA of 270,806 patients who had been referred by health care providers for testing of the mut yh gene,and 119,328 who该研究分析了医疗机构推荐MUTYH基因检查患者DNA的270806人和推荐brca 1/2基因检查患者DNA的119328人。 It showed that for both tests,the majority of those carrying mutations would not be spotted,Which Invitae describes as a clinical false-nenes结果显示,两种检查都没有发现装载突变的大部分人,invitae将其描述为“临床假阴性结果”。

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For MUYTH,40% of individuals with mutations in both copies of their mut yh genes100% life time risk of boos一致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%。装载这两种基因突变的人一生中患肠癌的危险完全是100%。For brca genes,94% of non-Ashkenazi Jewish individuals and 19% of those of Ashkenazi heritage had a mutation that would be missed toBRCA基因的情况是,94%的非德裔犹太人在一定程度上是亚裔(98%)和非洲裔(99%)的比例最低的。

a clinical false-negative result can be incorrectly reassuring,excluding a patient from receiving the preventive care they need based on He add他补充说:“临床假阴性结果可能是误导性的恳求,人们仍然会拒绝应该根据危险展开的预防化疗。”人们可能患上本来可以预防的癌症。“In response to the findings,23 andme said In a statement : the claims made by a competitor that we are returning clinical false negatives In对于这些发现,23andMe在声明中回答说:“竞争对手主张我们撤回‘临床假阴性结果’是假信息,对我们测试特点的描述也是错误的。

”我们的测试很准确作为FDA许可检查过程的一部分,我们已经证明了我们身体健康产品基因变异测试的准确度达到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 testities该公司向客户传达了一个具体的回答,即不能只检测特定基因变异,并结束基于23andMe结果的推荐测试。公司说:“这不是临床试验。如果一个人有癌症家族史或其他临床检查的适应证,最好先咨询医疗机构。

”Prof anneke lucassen,a clinical geneticist at the university of Southampton,said that,in her experience,Non-special istt I do think the false-negative rate is an issue,not necessarily through the companies fault but through low general awareness,She said.mostAnd 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 migration她说。“我明确指出,假声亲率是个问题。

这并不一定是因为公司的违规行为,而是因为人们广泛的意识不强。大部分来医院的人都会问:“有乳腺癌基因吗?”问。

想象一下,这是一个单一的测试,而不是检查大约2万个基因序列代码,看看什么是不同的。:亚博买球官方网站。

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