Misinterpretation of TPMT by a DTC genetic testing company.
23andme has suspended marketing of health-related reports due to US Food and Drug Administration approval violations. This has fostered discussions on the actual risks associated with consumer use of these reports. In the case described below, rare genotypes for the gene encoding thiopurine methyltransferase (TPMT) were misinterpreted by a direct-to-consumer (DTC) company, and risk calculations for breast cancer were offered when accuracy was not possible from the available information. Politics aside, these examples illustrate risks associated with DTC genetic testing without professional interpretation.
Division of Genetics and Genomics, The Research Connection and the Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
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Brownstein
Division of Genetics and Genomics, The Research Connection and the Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
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Margulies
Division of Genetics and Genomics, The Research Connection and the Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
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Manzi
D000483:Alleles; D001943:Breast Neoplasms / Q000201:enzymology / Q000235:genetics; D005820:Genetic Testing; D008780:Methyltransferases / Q000235:genetics*; D010597:Pharmacogenetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D018570:Risk Assessment; D014481:United States; D014486:United States Food and Drug Administration
D008780:Methyltransferases; C022745:thiopurine methyltransferase