Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
Clin Chem. 2011 Mar;57(3):518-21. doi: 10.1373/clinchem.2010.158220. Epub 2010 Dec 15.
Several companies offer direct-to-consumer (DTC) genetic testing to evaluate ancestry and wellness. Massive-scale testing of thousands of single-nucleotide polymorphisms (SNPs) is not error free, and such errors could translate into misclassification of risk and produce a false sense of security or unnecessary anxiety in an individual. We evaluated 3 DTC services and a genomics service that are based on DNA microarray or solution genotyping with hydrolysis probes (TaqMan® analysis) and compared the test results obtained for the same individual.
We evaluated the results from 3 DTC services (23andMe, deCODEme, Navigenics) and a genomics-analysis service (Expression Analysis).
The concordance rates between the services for SNP data were >99.6%; however, there were some marked differences in the relative disease risks assigned by the DTC services (e.g., for rheumatoid arthritis, the range of relative risk was 0.9-1.85). A possible reason for this difference is that different SNPs were used to calculate risk for the same disease. The reference population also had an influence on the relative disease risk.
Our study revealed excellent concordance between the results of SNP analyses obtained from different companies with different platforms, but we noted a disparity in the data for risk, owing to both differences in the SNPs used in the calculation and the reference population used. The larger issues of the utility of the information and the need for risk data that match the user's ethnicity remain, however.
有几家公司提供面向消费者的（DTC）基因检测，以评估血统和健康状况。对数千个单核苷酸多态性（SNP）进行大规模检测并非没有错误，此类错误可能导致风险分类错误，并在个体中产生错误的安全感或不必要的焦虑。我们评估了 3 种基于 DNA 微阵列或水解探针（TaqMan®分析）的解决方案基因分型的 DTC 服务和一种基因组学服务，并比较了同一个体获得的测试结果。
我们评估了 3 种 DTC 服务（23andMe、deCODEme、Navigenics）和一种基因组学分析服务（Expression Analysis）的结果。
各服务之间的 SNP 数据的一致性率>99.6%；然而，DTC 服务分配的相对疾病风险存在一些明显差异（例如，类风湿关节炎的相对风险范围为 0.9-1.85）。造成这种差异的一个可能原因是，不同的 SNP 用于计算相同疾病的风险。参考人群也对相对疾病风险有影响。
我们的研究表明，不同平台的不同公司获得的 SNP 分析结果之间具有极好的一致性，但我们注意到，由于计算中使用的 SNP 不同以及参考人群不同，风险数据存在差异。然而，信息的实用性和需要与用户种族相匹配的风险数据等更大的问题仍然存在。
