A little saliva can go a long way in providing information about your genetic disease risk. On April 6, 2017, the FDA approved the first direct-to-consumer product providing genetic risk analysis. Launched in 2006, 23andMe is a genotyping company offering concise reports with health and ancestry analysis. With FDA approval of 23andMe’s genotyping kit, consumers can now receive reports assessing their genetic risk for 10 diseases, including Parkinson’s and late-onset Alzheimer’s.
The FDA and 23andMe have clashed in the past, and in 2013, 23andMe stopped providing health-related analysis. In 2015, they received approval to share the carrier status of 36 diseases, letting consumers know if they had a variant of the disease-related gene that could be passed on without assessing specific risk of the individual developing the disease. Since then, numerous peer-reviewed studies have confirmed the relationship of genotype with genetic risk. This, combined with 23andMe’s work to ensure consumers understand the information they are receiving, has guided 23andMe to FDA approval of genetic risk assessment. Consumers are reminded that genetic risk is one factor in disease development; environmental and lifestyle choices also play key roles.
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The process is simple: order a kit from 23andMe, spit into a tube and mail it back. 23andMe’s labs extract the genomic DNA from your saliva, and use genetic markers to probe for specific sequences related to the traits they report. In 6-8 weeks, you receive an email with the analysis reports. Consumers can purchase an Ancestry or an Ancestry and Health kit, for $99 or $199 respectively. The Ancestry reports provide information on your ancestry, haplogroups, and even Neanderthal composition, as well as give you the option to connect with DNA relatives who have also been genotyped. The Health reports provide the 10 disease genetic risk analysis, carrier status for genetic disorders such as cystic fibrosis and sickle cell, and wellness and trait information, like lactose intolerance, freckles, and hair loss.
The FDA approval of direct-to-consumer genetic tests has been met with some concerns. Consumers may have emotional reactions to the information and without a doctor’s consult, interpret them incorrectly or worry unnecessarily. The use of a genetic counselor to help interpret genetic test results and guide patients through health decisions has been recommended by experts and by 23andMe to mitigate these concerns. Additionally, though 23andMe ensures individual privacy, the aggregated data is used for their research and marketing, raising questions about who should be responsible for storage and protection of your genetic data. These concerns are some of the issues that genetics companies like 23andMe will have to address, as direct-to-consumer genetic risk tests become more mainstream in the wake of the new FDA approval.
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