Self Diagnosis of Lynch Syndrome Using Direct to Consumer Genetic Testing: A Case Study
Self Diagnosis of Lynch Syndrome Using Direct to Consumer Genetic Testing: A Case Study
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DOI：
10.1007/s10897-011-9356-y
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发表时间：
2011-08-01
影响因子：
1.9
通讯作者：
Thomas, Brittany C.
中科院分区：
文献类型：
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作者：
Roberts, Maegan E.;Riegert-Johnson, Douglas L.;Thomas, Brittany C.
我们正在报告我们认为是第一个发表的病例，患者启动直接消费者（DTC）基因检测，以测试已知的家族性突变的存在。在这种情况下，我们的客户来自一个已知的MSH 2家族;他/她的父母和相关的祖父母先前都对已知的家族性MSH 2突变检测呈阳性。使用23andme的“家族遗传全基因组比较”选项，我们能够确定我们的客户最有可能继承了已知的家族MSH 2突变，而无需进行单位点基因检测。由于担心基因歧视，我们的客户选择DTC基因检测而不是单点基因检测。这个案例表明，尽管通过了《遗传信息非歧视法》（GINA），患者仍然害怕遗传歧视，尽管遗传咨询界对这种类型的测试总体上持负面态度，但DTC基因检测可能是有用的。
We are reporting what we believe to be the first published case of patient initiated direct to consumer (DTC) genetic testing to test for the presence of a known familial mutation. Our client in this case is from a known MSH2 family; both his/her parent and associated grandparent have previously tested positive for the known familial MSH2 mutation. Using 23andme's "family inheritance genome-wide comparison" option we were able to determine that our client most likely inherited the known familial MSH2 mutation without pursuing single site genetic testing. Our client pursued DTC genetic testing instead of single site genetic testing due to the fear of genetic discrimination. This case shows that patients are still fearful of genetic discrimination, despite the passage of the Genetic Information Nondiscrimination Act (GINA), and that DTC genetic testing may be useful despite the overall negative feeling towards this type of testing in the genetic counseling community.