Exome & General Genetics

Session # 227

False Positive Results Reported by Direct-To-Consumer Genetic Tests Highlight the Importance of Clinical Confirmation Testing for Appropriate Patient Care

There has been an increasing demand from the public for direct-to-consumer (DTC) genetic tests due to greater knowledge about and interest in human genetics and personalized healthcare. While the FDA limits the type of health-related claims DTC tests can market, some DTC companies will provide customers their raw genotyping data if it is requested. While this data often comes with a disclaimer that it is not intended for medical use, it may include alterations occurring in genes which are recommended by the American College of Medical Genetics and Genomics (ACMG) to be reported as incidental or secondary findings in genomic testing. These genes are implicated in highly penetrant genetic disorders for which there are surgical and other interventions available to mutation carriers aimed at preventing or significantly reducing morbidity and mortality. If an alteration in one of these genes is reported to a DTC customer, it is not uncommon for these individuals to request clinical confirmation through their healthcare provider.

Search Results

Start your search...