Consistency of Direct-to-Consumer Genetic Testing Results Among Identical Twins
Consistency of Direct-to-Consumer Genetic Testing Results Among Identical Twins
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DOI：
10.1016/j.amjmed.2019.04.052
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发表时间：
2020-01-01
影响因子：
5.9
通讯作者：
Sehgal, Ashwini R.
中科院分区：
文献类型：
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作者：
Huml, Anne M.;Sullivan, Catherine;Sehgal, Ashwini R.
背景：这项研究的目的是评估3种常用的直接面向消费者的基因检测试剂盒的一致性。基因检测试剂盒由几家公司广泛销售，但它们的结果是否一致尚不清楚。由于同卵双胞胎拥有相同的DNA，他们的基因检测结果应该可以提供对测试一致性的洞察。方法：42对同卵双胞胎(21对)为3家检测公司提供样本。当同一家公司对双胞胎进行测试，而同一参与者由不同公司进行测试时，结果是祖先结果的一致性。结果：同一家公司检测双胞胎配对结果的一致性较高，平均符合率为94.5%~99.2%。由两家不同的公司对参与者进行测试时，血统结果的一致性较低，平均符合率在52.7%到84.1%之间。性状结果的符合率存在差异，从341%的深度睡眠和耳垂分离到90.2%的唇裂。结论：消费者基因检测的一致性对于公司内部的血统结果是高的，但对于公司之间的血统结果和特定的特征来说，一致性更低和更具变异性。这些结果引发了人们对这种测试的有用性的质疑。(C)2019 Elsevier Inc.保留所有权利。
BACKGROUND: The purpose of this study was to evaluate the consistency of 3 commonly used direct-to-consumer genetic testing kits. Genetic testing kits are widely marketed by several companies but the consistency of their results is unclear. Because identical twins share the same DNA, their genetic testing results should provide insight into test consistency.METHODS: Forty-two identical twins (21 pairs) provided samples for 3 testing companies. Outcomes were concordance of ancestry results when twin pairs were tested by the same company and the same participant was tested by different companies. Concordance of 8 self-reported traits with 23andMe genetic analyses were also examined.RESULTS: Concordance of ancestry results when twin pairs were tested by the same company was high, with mean percentage agreement ranging from 94.5% to 99.2%. Concordance of ancestry results when participants were tested by 2 different companies was lower, with mean percentage agreement ranging from 52.7% to 84.1%. Concordance of trait results was variable, ranging from 34.1% for deep sleep and detached earlobes to 90.2% for cleft chin.CONCLUSION: The consistency of consumer genetic testing is high for ancestry results within companies but lower and more variable for ancestry results across companies and for specific traits. These results raise questions about the usefulness of such testing. (C) 2019 Elsevier Inc. All rights reserved.