Roberts Maegan E, Riegert-Johnson Douglas L, Thomas Brittany C
Medical Genetics, Mayo Clinic, Jacksonville, FL 32224, USA.
J Genet Couns. 2011 Aug;20(4):327-9. doi: 10.1007/s10897-011-9356-y. Epub 2011 Mar 30.
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.
我们报告了我们认为首例由患者发起的直接面向消费者（DTC）的基因检测案例，该检测用于检测已知家族性突变的存在。本案中的客户来自一个已知的MSH2家族；其父母及相关祖父母此前均检测出已知的家族性MSH2突变呈阳性。通过使用23andme的“全基因组家族遗传比较”选项，我们得以确定我们的客户很可能继承了已知的家族性MSH2突变，而无需进行单基因位点检测。由于担心基因歧视，我们的客户选择了DTC基因检测而非单基因位点检测。该案例表明，尽管《基因信息非歧视法案》（GINA）已经通过，但患者仍然担心基因歧视，并且尽管遗传咨询界对这类检测总体持负面态度，但DTC基因检测可能仍有用处。
