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Psychological Distress with Direct‐to‐Consumer Genetic Testing: A Case Report of an Unexpected BRCA Positive Test Result
Author(s) -
Dohany Lindsay,
Gustafson Shanna,
Ducaine Whitney,
Zakalik Dana
Publication year - 2012
Publication title -
journal of genetic counseling
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.867
H-Index - 52
eISSN - 1573-3599
pISSN - 1059-7700
DOI - 10.1007/s10897-011-9475-5
Subject(s) - genetic testing , genetic counseling , distress , anxiety , medicine , clinical psychology , psychiatry , psychology , genetics , biology
We report a case of a client who discovered she had a BRCA mutation following direct‐to‐consumer (DTC) genetic testing in the absence of genetic counseling. After testing she presented for genetic counseling with anxiety, distress, and a deficit of knowledge about what the DTC genetic testing revealed. Genetic counseling helped alleviate distress while empowering the client to apply the results of testing to improve medical management. Despite recent studies demonstrating no negative psychological impact of DTC genetic testing on the consumer, this case illustrates that significant psychological distress and confusion can occur as a result of DTC genetic testing for highly penetrant single gene disorders. Pre‐ and post‐test genetic counseling in conjunction with DTC genetic testing may alleviate consumers’ distress and empower clients to proactively utilize their result information.