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发布日期:2021-02-23 05:56浏览次数:
本文摘要: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。


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”。

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。





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