FDA Tells 23AndMe to Halt Marketing

 

The Mountain View based 23AndMe, a personal genome service (PGS) that offers genome sequencing was ordered to stop marketing its service. The FDA report stated that 23AndMe did not demonstrate that they had “analytically or clinically validated the PGS for its intended uses” and the “FDA is concerned about the public health consequences of inaccurate results from the PGS device.” The report from the FDA has now sparked a class-action law suit in California and caused 23AndMe to suspend health-related genomic testing.

But why is this important to a nephrology blog, yet along an academic (aren’t they all?) nephrology blog. It’s simple, as nephrologist we are always looking for more evidence to help us guide our decision-making when available. And that’s exactly what affordable home genome sequencing provides. When most doctors consider using genetic information to help aid in diagnosis or treatment they often have few good options within the standard medical system. These test are often very expensive, costing hundreds to thousands of dollars and most of the time are not covered by even the best of insurances. And worst, most of these test are for single mutations. Meaning that if you were interested in a panel of variants for multiple loci you would have to order multiple different test. The great thing about PGS is that your patient could get the testing within a month. They could bring it in into the office and you could discuss if they had variants for known disease-specific loci.

For example, if I had a 42 year old male with no known medical history but a significant family history of kidney disease that was referred to me for 1.5 grams of proteinuria. If this patient want to know what he had we could of course offer a renal biopsy. But what if he was reluctant or better yet if want to know what the risk his children would have any kidney disease. If the patient brought in his information we could go over his Apol1 SNP and discuss if he had any risk alleles. I understand that high-risk variants are not sufficient to cause disease alone. It is highly likely that other genetic and environmental factors with highly variable frequencies modify the penetrance and expressivity of the APOL1 genotype, but this would be useful information to the patient to help him make a more informed decision. Although this may not be the greatest illustration, it is one that is applicable to our field. For great treatment example of genome testing in practice look at Taiwan, where patients can’t get carbamazepine unless they are first genotyped to see if they are at risk for Stevens-Johnson syndrome.

Will the FDA’s ruling slow the field of commercial home genome test? Not likely. As stated by Dr. Eric Topol, Director of the Scripps Translational Science Institute, in an interview with Medscape last year “from a medical standpoint, we are all just lots of zeroes, ones, and ACTGs, if we can get all of that critical information on patients, then we can change healthcare.” -Adrian



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