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DTC Personal Genomics: so which is it, medical information or not?

In June of this year, California’s Department of Public Health (CDPH) issued cease and desist letters to 13 direct-to-consumer genetic testing companies. The letters laid down the law: in order to continue marketing to California residents, the companies must (i) use labs that are CLIA certified, and (ii) require that a doctor be involved in ordering the genetic tests.  Two of the 13 companies, Navigenix and 23andMe returned from the legal battle triumphant: California’s DPH issued licenses that allowed them to continue operating in the state.  But what exactly the companies promised in return for the green light is not entirely clear.

An article in the NY Times, quoting a senior official in the CDPH, confirmed what many of us had thought likely — the companies argued in part that they are not in the business of providing medical tests.

Really?

So what, then, do we make of 23andMe’s website that has an entire page dedicated to “health and traits,”  and claims to rely on a  “growing list of more than 80 diseases” to provide information on how your genes may affect your disease risk?  Does this not sound medical?  And if Navigenics made a similar legal argument, how does this square with their more upfront desire to provide “clinical information” so you can be “successful on your path to optimal health?”

Perhaps it was the single physician that each company agreed to (or already did) employ that convinced the CDPH that all was copacetic.  But the fact that one person could review each test tells us that either few consumers are biting, or the review is perfunctory.  And what are they reviewing for, exactly?

At the opposite end of the utility spectrum, 23andMe initially promoted their services as “recreational” and “pure fun.”  This may be true if you are testing for SNPs associated with taste for broccoli, but it is certainly not “pure fun” when someone finds out they have an elevated risk for developing colon cancer.

Even so, much of the data that these companies will be providing to consumers (which was recently expanded to include more SNPs) is not very useful for medical decisions.  With the exception of a few conditions such as macular degeneration, information on elevated risk may look something like this: “Most people have a 4.5% risk of developing [x] over the course of their life.  With the presence of this SNP, you have a slightly higher risk, at 6.0%.”  What to do with this information?  There is a call for the online personal genomics companies to provide more genetic counseling to help interpret what these risk percentages mean.  But the truth is, the counselors don’t know what to tell you either.  Eat better?  Exercise more?

Most of the information does not have much clinical utility.

Does this mean a retreat to the initial (and perhaps disingenuous?) “recreational” marketing strategy?  Certainly not.  The emphasis on both Navigenics’ and 23andMe’s website is that this information is meant to inform medical decisions.  But the question remains: interpreted when, and by whom?  Without ICD-9 codes for interpreting information on SNPs, few physicians are going to welcome this daunting interpretive role.

It may be the case that all of the “recreational” and “medical” marketing strategies were really just clever (and not necessarily sinister) methods of subject recruitment.  It does seem that much of the energy is now being channeled to convert the personal genomics information into a social networking research powerhouse.

What happens next will be very interesting.  As the price of 23andMe’s services was just cut to a mere $399, the argument that these early adopters are sophisticated consumers of genetics information may fall apart.  We are all free to make poor consumer investments, but the companies cannot misrepresent what it is they are selling.  Medical information?  Fun facts?  Participation in a large research database?  All of the above? Also, if consumers agree to be part of a genetic networking database, they must very clearly and plainly be told that they are protected through contract or tort, not HIPAA or the Common Rule (unless the companies partner with federally funded programs).

While I agree with many of the arguments for cautious and thoughtful regulation, I do think these companies, and 23andMe in in particular, are trying to have it both ways.  I do not doubt that they are taking their regulatory compliance very seriously.  But it might be a good idea to call them out on their inconsistencies between what they promise, what they can actually provide, and what they expect to do with the consumer’s data.

Tell us your thoughts!

Teneille Brown

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