Self diagnosis of lynch syndrome using direct to consumer genetic testing: A case study

Maegan E. Roberts, Douglas L. Riegert-Johnson, Brittany C. Thomas

Research output: Contribution to journalArticlepeer-review

11 Scopus citations


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 genomewide 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.

Original languageEnglish (US)
Pages (from-to)327-329
Number of pages3
JournalJournal of Genetic Counseling
Issue number4
StatePublished - Aug 2011


  • 23andme
  • Direct to consumer genetic testing
  • Genetic counseling
  • InformedDNA
  • Linkage analysis
  • Lynch syndrome

ASJC Scopus subject areas

  • Genetics(clinical)


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