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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 international conference last week.上星期一次国际学术会议上公布的科学研究数据显示,顾客基因检测很有可能会给这些癌病风险性高些的人带来诈骗的乞求。

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.上星期一次国际学术会议上公布的科学研究数据显示,顾客基因检测很有可能会给这些癌病风险性高些的人带来诈骗的乞求。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.此项由临床医学基因检测企业Invitae大力开展的研究表明,23andMe等必需朝向顾客的企业对乳癌和直肠癌风险性的检测说明,绝大部分装车受测基因DNA变异的人检测結果全是呈阴性的。

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.在国外人们细胞生物学学好于得克萨斯州休斯敦汇报工作本年度大会以前,来源于Invitae的爱得华·埃斯普林讲到:“这种检测不理应只看表层使用价值,不管检测結果是呈阳性還是呈阴性。”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.“科学研究数据信息着重强调的是,大家务必了解到,这类检测的結果有可能会是不正确的,但心寒的是,他们不是初始的。”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.此项科学研究还强调,有亚籍和非洲裔血系的外国人更为有可能装车突然变化基因,而顾客检测没法检测到这种突然变化基因。

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.此项科学研究的关键是美国食品和药物管理局(FDA)近期准许后的与乳癌、卵巢疾病和直肠癌涉及到的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.检测是那样进行的:试验者寄出去DNA样版作为剖析,随后收到相关基因对身心健康危害的检测結果。

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.就乳癌和卵巢疾病来讲,FDA早就准许后了一项对于BRCA1和BRCA2基因三种特殊变异的筛选检测,这二种变异在德系正可谓是中尤其罕见。殊不知,这种变异在别的血系的人的身上非常少闻。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.类似地,针对直肠癌,23andMe公司获得FDA批准的二种基因突然变化检测,这在北欧风血系的人中尤其罕见。


该企业在其网址上向顾客表明了这种检测的局限。Esplin said that despite this, consumers could be wrongly reassured by a negative result.埃斯普林答复,即便如此,顾客仍有可能被呈阴性結果不正确地萌发顾忌。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.此项科学研究剖析了270806名被定点医疗机构举荐进行MUTYH基因检测病人的DNA,及其119328名被举荐进行BRCA1/2基因检测病人的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.数据显示,在这里二种检测中,大部分装车变异的人都没被寻找,Invitae将其描述为“临床医学假阴性結果”。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.针对MUYTH基因,在装车有二种MUTYH基因复制变异的人中,有40%的人的变异与FDA批准检测到的变异各有不同。这一数据在亚裔美国人中降低到100%,在非洲裔外国人中降低到75%。


装车有这二种基因突然变化的人一生中身患直肠癌的风险性彻底是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.针对BRCA基因,94%的非德系正可谓是和19%的德系正可谓是装车有可能被忽略的基因突然变化。某种意义,亚籍(98%)和非裔(99%)的占比最少。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.他补充讲到:“临床医学假阴性的結果有可能是虚假性的乞求,使大家依然拒不接受务必根据风险性而进行的保护性放化疗。

大家很有可能会得了本来能够预防的癌病。”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.对于这种寻找,23andMe在一份申明中答复:“竞争者宣称大家因此以将‘临床医学假阴性結果’撤销是谣言,其对本企业检测的特征描述也是不正确的。大家的检测十分精准。

做为FDA批准检测全过程的一部分,大家早就证实,我的身体健康食品基因变异检测精确性高达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.该企业答复,已向顾客实际答复,只检测一些基因变异,顾客也不应撤出一切根据23andMe結果的举荐检测。该企业答复:“这不是临床医学检测。

假如一个人有癌病家族史或别的临床医学检测的适用范围,大家依然提议最先资询定点医疗机构。”Prof Anneke Lucassen, a clinical gen eticist at the University of Southampton, said that, in her experience, non-specialists would be likely to wrongly interpret negative results as an all-clear.南安普敦高校临床医学遗传学家lol安妮克·卢卡森专家教授答复,依据她的工作经验,外行人士很可能会不正确地将呈阴性結果了解为“没风险性”。

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.她讲到:“我显而易见强调假阴性亲率是个难题,这不一定是因为企业的进攻犯规,只是因为大家的普遍观念不强悍。大部分来医院门诊的人会问:‘是我乳癌的遗传基因吗?’想像一下,这是一个单一的检测,而不是根据查验约两万个基因序列编号来鉴别什么各有不同。