Saturday, April 8, 2017

Home Genetic Testing and Risk Assessment Approved by the FDA

Back in 2013, a company called 23andMe (referring to the 23 pairs of human chromosomes) offered a genome testing service that promised to analyze a sample of the DNA in your saliva for over 300 alleles, many of which were associated with increased risks of genetic diseases. At the time, the FDA claimed that providing information about future risk of genetic disease was tantamount to offering medical device, and ordered the company to stop selling the kits for medical purposes (see this blog, Dec. 5, 2013).

For a time thereafter, 23andMe survived by selling its kits for "entertainment", i.e. to provide insight into ancestry for those who were interested. But it kept working on the medical angle. In 2015 the company went back to the FDA and was given approval to provide genetic information regarding allele "carrier" status for 36 genetic conditions, such as cystic fibrosis and sickle cell anemia, as long as the company didn't make any statements about the risks of developing a genetic condition as a result of the alleles (see this blog Nov. 3, 2015).

Still, the company kept working on the goal of being able to provide customers with valid risk assessment data. And apparently they did a pretty good job, for this week the FDA gave 23andMe permission to identify 10 telltale markers of genetic diseases, including Parkinson's disease and late-onset Alzheimer's disease, and provide information about the likelihood that the customer will develop the genetic conditions associated with these markers (my emphasis added). It's a big win for a small company, and a testament to the company's perseverance.

A word of caution, however, before you decide to have your DNA analyzed. You should know that you may not be able to keep the results of your home genetic test private under certain circumstances (see this blog, Mar. 13, 2017).

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