The Risks Of Direct-To-Consumer Gene Tests

23andMe2There’s an opinion piece in the New England Journal of Medicine (NEJM) that discusses these new direct-to-consumer gene tests, of which 23andMe is one:

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.

7 thoughts on “The Risks Of Direct-To-Consumer Gene Tests

  1. David D

    I think this case/lawsuit is interesting. 23 and Me and other companies like it place disclaimers about the products results. I don’t see anything wrong with the services they are providing. They are a business providing a service. It just happens to be a novelty service that should be taken as entertainment.

    The author of the opinion piece is stating that this service “could cause harm”, but does not offer any instance of it actually causing harm. Me swabbing my cheek and mailing a package doesn’t sound harmful (although the line at the post office can be painful sometimes). I think the greatest harm could be psychologically, since many people may be upset to learn that they may be genetically predisposed to certain conditions. However, I don’t need the FDA to coddle me and protect me from bad news.

    Also, it is interesting that the government stepped in before lawsuits and complaints by the actual consumers resulted. (Yes, the lawsuit was initiated by one consumer…but the government took it to the next level.) Perhaps the consumers were educated enough to know that this service is a novelty. Is the government protecting anyone or are lawyers just hungry for a case? Have the results from 23 and Me resulted in additional healthcare costs? Are doctors (who have been complaining about this service) worrying about having additional conversations initiated by their patients? Are doctors worried that they may lose out on charging patients for similar testing services that they provide?

    Bottom line: I don’t feel like a more protected consumer because of this lawsuit. The FDA has bigger fish to fry.


    1. Bix Post author

      I had to look up Gattaca. Holy cow. I have to say, eugenics gives me the willies. In fact, a lot of the consequences of, not just gene testing but also prenatal screening, gives me the willies. Do you abort a fetus if it’s, say, a girl and you wanted a boy? Do you abort a fetus with Down’s Syndrome? With the BRCA breast cancer genes? Or colon cancer genes? It’s getting messy.

      I really, really, think there should be a structure in place, in society, to deal with the consequences of genetic testing … which are many … there are extra screenings and procedures, medical complications of same, psychological impacts, discrimination in insurances (life, medical), job discrimination, especially if the employer is paying the health premiums and picking up the tab for all those screenings and procedures and mental health issues and time off and productivity impacts. (And the employee may never get cancer.)

      Should we, as a society, pay, through our taxes (Medicare), for these genetic screenings and then all the issues I just raised? Maybe we should. It’s an enormous cost, especially when it is not treating an actual disease. (It is a windfall, however, for the businesses providing these services.) There’s a big, big, ball that gets rolling once the test is done, and it’s not being addressed.


  2. Bix Post author

    I don’t think it’s unreasonable for the FDA to ask a company that provides a medical service (“xx% risk for xx cancer”) to show its validation tests. If it can’t show that its health risks are accurate, which it has not done to date, how different is it from tarot cards?


  3. Pingback: The Genetic Medicine Boondoggle | Fanatic Cook

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