纯合片段分析
姓氏祖源
祖源平均脸
基因关系
基因保险助手
原始数据
宇宙的22染色体
综合讨论组
最新遗传学权威杂志: DTC的基因检测错误率高，需要临床基因测试验证
https://www.nature.com/articles/gim201838
Our analyses indicated that 40% of variants in a variety of genes reported in DTC raw data were false positives. In addition, some variants designated with the “increased risk” classification in DTC raw data or by a third-party interpretation service were classified as benign at Ambry Genetics as well as several other clinical laboratories, and are noted to be common variants in publicly available population frequency databases.
Conclusion
Our results demonstrate the importance of confirming DTC raw data variants in a clinical laboratory that is well versed in both complex variant detection and classification.
医院的检测贵是因为准确率不是一个级别的
Our analyses indicated that 40% of variants in a variety of genes reported in DTC raw data were false positives. In addition, some variants designated with the “increased risk” classification in DTC raw data or by a third-party interpretation service were classified as benign at Ambry Genetics as well as several other clinical laboratories, and are noted to be common variants in publicly available population frequency databases.
Conclusion
Our results demonstrate the importance of confirming DTC raw data variants in a clinical laboratory that is well versed in both complex variant detection and classification.
医院的检测贵是因为准确率不是一个级别的
深圳市市场监督管理局企业主体身份公示
中文
English
4 个回复
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2. 这里的DTC大多不是是23andme，ancestry，Family Tree DNA等公司。文章中明确指出了检测方法是单基因／单位点／多基因panel的为主，而且是提供给患者的服务。而23andme等公司的提供的是以高通量芯片为基础的基因分型。
3. 中国的基因检测市场也有类似的情况，有很多公司以较低水平的检测手段、质量控制方法提供不可靠的结果。
4. 23andme等大型针对普通人群的DTC产品，已经在很多解读项目上取得了FDA的认证，也通过大量高水平的GWAS文章证明了自己结果的可靠性。
总的来说，是反应美国DTC乱象的，23andme等反而是业界标杆。中国不也有各种坑人的检测吗，骗钱的可不少，各种天赋基因和骗老年人的。
赞同来自:
23andme 最近药物基因组的项目被FDA批准之后，myraid的股价直接跌了20%。。
赞同来自: starvich
All authors are full-time employees of Ambry Genetics Corporation but otherwise declare no conflict of interest.
那么 Ambry Genetics Corporation 是啥公司呢？
Ambry Genetics成立于1999年，自从开始提供遗传癌症panel和临床外显子测序以来，已经进行了一百多万次基因测试，并确定了至少500种不同基因中的45,000多个突变。该公司提供针对遗传/非继承性疾病及许多临床专科疾如肿瘤学、心脏病学、肺部、神经学和遗传学疾病的遗传检测方案。
所以作者就是卖医院产品的，那他抨击 DTC 产品的原因呢？应该知道了吧。
当然 DTC 产品有假阳性是肯定的，毕竟很多用的芯片，并不是高深度测序。但你愿意花大价钱做 DTC 的基因检测吗？如果生病了，那自然很关心，很愿意花钱买贵的，只要能治好。那消费级呢？
赞同来自: starvich 、zhengqiang
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