23andMe and the FDA, NEJM, 13 March 2014
I really agree with this:
“Before genomic tests have been validated, however, genomic information can be misleading — or just plain wrong — and could cause more harm than good in health care settings. In most cases, family history is likely to be at least as informative about an individual’s health risks as SNP-based testing like that used by 23andMe. In this regard, the FDA’s warning letter to 23andMe for its nonvalidated PGS, which resulted in 23andMe’s ceasing to sell its product, is not currently depriving people of useful information; the agency is merely requiring that companies that want to sell their health-related medical devices to the public demonstrate to the FDA that they are safe and effective — in this case, that the tests do what the company claims they do. That is traditional consumer protection and what the public expects from the FDA.
The heart of this debate is not the cost of the sequencing (or SNP testing), but rather whether the information produced can be used in ways that improve our health.”
As I’ve said before, 23andMe was wrong to provide a direct-to-consumer gene test that was not validated. What if it said someone’s risk for breast or colon cancer was 90%? But, how many people’s genes were (with informed consent) in the database for comparison? Does the risk change if you use a different database? What other factors (race, ethnicity, places lived, smoking, pollution, diet, radiation, other genes, epigenes, etc.) may have been acting together with those genes to precipitate and grow that cancer? What if, after validation, the increased risk was only 15%, but the person already choose to expose themselves to tests involving radiation? To surgery? Already chose to enlist the help of mental health professionals in dealing with the anguish? Or not? Already took a financial hit in paying for these and other services?
This is not information that is being sold. It isn’t information until it is validated.