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A few months ago I posed some questions about the regulations that might oversee personal genomics companies (Who’s your Daddy? and Step right up, get your very own DNA profile).


Because I am biased. At Geospiza, where I work, we make software products that help our customers, who do DNA testing, meet FDA and CLIA regulations. Since some of our customers do DNA testing for diagnostics and clinical studies, we are well aware of the regulatory issues that concern DNA sequencing and DNA sequence data. Most DNA diagnostics labs are regulated by CLIA, the Clinical Laboratory Improvement Act, with the diagnostic testing kits regulated by FDA (they’re a medical device).

Naturally, I wondered what interesting things would happen once the clinical regulatory groups started looking into personal genomics companies like 23andMe.

Now, it appears to no one’s surprise that 23andMe has learned that there are regulations governing what they do. Yes, if you diagnose disease, whether it be through DNA or a home diabetes test, telling people about their health risks is a health issue.

The explanation in the spittoon, 23andMe’s blog, is amusing:

Because 23andMe is creating an entirely new kind of business in delivering personal genetic information, the regulatory requirements we face are both complicated and uncertain.

I guess that’s short for “We didn’t do our homework, and it wasn’t our fault because we were confused.

As far as the customers, Andrew Meyer is bummed since it’ll take longer for him to get results. Daniel has written about those who are impatient. And Steve Murphy (aka the Gene Sherpa) has the best post of all in CLIA? What’s that???

I guess the take home lesson, even for new technology, is that old cliche’:

Buyer beware.


  1. #1 hibob
    April 2, 2008

    How would the FDA and CLIA handle a lab that just does contract sequencing and SNP determination, but does not supply any information on how to interpret the results or imply they should be used medically? Basically, just the same sort of company that provides these services already for academic and industrial labs, but accepts submissions from individuals.
    Useless to the average person so far, but if there is downloadable software somewhere on the web (no provable affiliation to the lab, is already used in legitimate research, etc,) that could analyze the data, could a company escape regulation (and some patent enforcement) this way?

  2. #2 Sandra Porter
    April 2, 2008

    That’s an interesting question. I’m not qualified to give any legal advice. I don’t think a U.S. company could escape U.S. regulations, but some companies that perform this service, like DeCode, are not in the U.S.

    Here’s what I do know:

    If you have a DNA sequence, you could blast against the dbSNP database at the NCBI. If your DNA sequence maps in a disease-related gene, and if there is an allele that’s related to the disease and it’s known (a big IF), you could find out if you have that allele. The software is freely available on the web.

    23andMe might be getting into trouble, in part, because they give people this kind of information and they interpret it.

    Where would an individual get their DNA sequenced?

    Until recently, I don’t think there were many places where an individual could go to get their DNA sequenced. Even now, I don’t think many companies have this kind of service. Many of the companies that do offer this service are regulated by CLIA and know it.

    Where would an individual go for genetic testing services?

    There are lots of places where one could go. There is a really good comprehensive site, http://www.genetests.org that lists all the providers of genetic testing in the U.S. and describes the kinds of tests that they do.

  3. #3 Steven Murphy MD
    April 2, 2008

    Thanks for the kind words….I just hope they would consider my proposal. I think all of us in the testing world were wondering…who is gonna let them get away with that? Some thought maybe it was a money thing. Now it turns out they have LabCorp (Whom they have now contracted with) rethinking their new agreement. According to my sources LabCorp is now on the lock down and has put potential agreements with Navigenics and some other companies on hold, while their lawyers are trying to get out of the 23 and Me mess they just go into…..If they can’t get the NYS state certification too….. boy what a mess. I feel bad that they didn’t talk to you before they jumped into this pool.


  4. #4 Andrew Meyer
    April 3, 2008

    Yeah, I am pretty bummed.

    Another interesting thing about this delay is they haven’t sent out a mass email to their customers yet. The only communication of the delay has been through their blog post.

    They usually announce things on their blog first and then send out a mass email to their customers, but they haven’t yet. Hmmm.

  5. #5 Abel Pharmboy
    April 4, 2008

    Sandy, what’s the feeling in your field about National Geographic’s Genographic Project under Dr Spencer Wells? They offer Y-chromosome or mtDNA haplotyping using STRs to help you examine your evolutionary journey; no disease markers or susceptibility genes. The relatively high price ($99) partly offsets the costs of the overall research project.

  6. #6 Sandra Porter
    April 4, 2008

    In general, I think it’s pretty neat. There are a few problems though and I wrote about them here.

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