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,对于肠癌,23andMe公司提供FDA授权的两种基因突变检测,这在北欧血统的人中最为常见。该公司在其网站上向消费者解释了这些测试的局限性。
Esplin said that despite this, consumers could be wrongly reassured by a negative result.
埃斯普林表示,尽管如此,消费者仍可能被阴性结果错误地打消疑虑。
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名被医疗机构推荐进行MUTYH基因检测患者的DNA,以及119328名被推荐进行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,大多数携带突变的人都没有被发现,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 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.
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