Three types of potentially medically-relevant DTC-GT are available: (1) assessment of risk for common multifactorial diseases (e.g., diabetes, etc.); (2) targeted mutation analysis for single gene disorders; and, (3) sequencing. Some DTC-GT companies state that they do not guarantee the accuracy or reliability of their tests. Many of the significant genetic risk and protective factors for multifactorial conditions have not been identified. This leads to greatly divergent risk interpretations between companies, even when performed on the same individual. For targeted mutation analysis and sequencing, the specific test may not include all clinically relevant genes or mutations; resulting in false reassurance. Genetic changes that are only weakly associated with disease may be reported, leading to anxiety or inappropriate additional testing. When making medical decisions based on results of genetic testing, the test should meet the recommendations made by the Canadian College of Medical Geneticists in 2012. Not all DTC-GT meet these recommendations.
Conditions: Multifactorial diseases, single gene disorders
Diagnostic Tests: Direct to consumer genetic testing (DTC-GT)
Procedures: Gene sequencing
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