Who owns your genome, redux

This week (WSJ Nov 26, 2013) the US  FDA warned 23andMe to stop marketing their genome analysis services.  It is worth taking a look at the issues raised since they vary from lab procedures to the nasty question of who owns your genome (in the U.S.)

An issue identified by the WSJ article is “scrutiny of their laboratory processes.”  This is then reiterated in part by the phrases “false negative” and “false positive”.  It certainly seems reasonable that a service in this business should have as high of assurance that you get results based on the materials you submit, and that the genes identified are actually in your genome. However it appears that this concern is not the real FDA target.

The false positive concern, expressed by the FDA as ”  For instance, if the BRCA-related risk assessment for breast or ovarian cancer reports a false positive, it could lead a patient to undergo prophylactic surgery…”  Which seems to presume that a Doctor would undertake such surgery without obtaining confirming lab results, a path towards malpractice. The false negative concern has more merit … folks convinced by the results that they are not at risk for a disease and ignore the symptoms.

23andMe has a detailed, readable  (!) and informative Terms of Service statement.  It covers the types of disclaimers that one would expect, and also some interesting warnings such as “knowledge is irrevocable” — you may not like what you find out.  “You may learn information about yourself that you do not anticipate” ancestry, parentage, etc. may not be what you think.  Genetic Information you share with others could be used against your interests”— such as health care providers, insurance companies, employers etc. Including the fact that you can not claim that you have not been genetically tested to an insurance company, or answer some questions like “do you have any reason to believe…” on health questionnaires. While, in the U.S., there are laws limiting abuse of genetic information (see http://www.genome.gov/10002328), and in theory it cannot be used in Health Insurance, it can be used in life insurance or long term care insurance descisions.

The philosophic crux of the situation is captured in this phrase: “the risk that a direct-to-consumer test result may be used by a patient to self-manage, serious concerns are raised if test results are not adequately understood by patients…” This is where the question of data ownership surfaces.  Do you have a right to know all or part of your genome?  This phrase suggests you do not.  “Direct to consumer” bypasses an important (political funding) constituency known as the medial professionals. And while I am sure there are persons who are not competent to handle genomic information about themselves, it is unclear that regulatory restrictions should prohibit all of us from such information. Ultimately knowledge is power, and when such analysis is done, we have to ask who holds the power aka knowledge?  IEEE Spectrum ran an article about the full genome analysis in March 2013.  I was surprised that the writer was not allowed access to her results, but only though a medical interpretation of a community of doctors. In essence the companies running the tests and the genetic counselors interpreting them do not recognize the right of an individual to know themselves at the genomic level.

23andMe only evaluates genes of interest, not a full genome report. This reduces the possibility that next week’s research will disclose a new genome associated risk that is evident as a result of your already competed tests.  What will you do if a “dumb” gene is discovered, and you have it? (ok, you wouldn’t be reading this blog is my guess.)

Action? — A petition exists at Whitehouse.gov to ask the President  to override the FDA warning. However, this only touches on the essential question of genomic ownership and rights. Some of these questions were raised in this blog in March, and need serious consideration.  This area is moving forward on all fronts.  The supreme court has ruled that genetic content cannot be patented, public figures have undergone preventive surgery, and patents have been issued for designer babies.

So who should have the rights to your geome, and why?

2 thoughts on “Who owns your genome, redux

  1. I view this as a straightforward enforcement action by FDA that is consistent with federal law and FDA regulations. According to FDA’s complaint, 23andme claims to provide “health reports on 254 diseases and conditions,” and advice how to avoid these problems.

    Apart from the question of technical reliability of the tests, there is issue of whether the company has scientific evidence supporting these many indications for use. If the company markets its product with the claim that sequence X indicates increased risk for disease Y and intervention Z will reduce the risk, FDA requires that it have sufficient evidence to back up its claim. We know for sure that BRCA1 or BRCA2 greatly increases the risk of breast cancer – but what about the other 253 diseases? The evidence linking many of these other diseases and particular DNA sequences is a lot murkier than that linking BRCA1 and breast cancer. These kinds of fishing expeditions present real risks of overdiagnosis, and the benefits in many cases are likely to be speculative.

    The FDA said “we still do not have any assurance that the firm has analytically or clinically validated the PGS for its intended uses, which have expanded from the uses that the firm identified in its submissions.” That is a straightforward regulatory issue. Bioethicists will be arguing about this case for years, but the reason for FDA’s present action seems to be a straightforward regulatory matter.

    – Ken Foster

  2. It’s fairly straight forward as a protective action:
    Obtain confidence that the tests are run accurately
    Obtain research results that show connection between specific genes and disease (which are actually posted at the NIH site: http://www.genome.gov/ )

    Where things get tricky is the question of “now that we have the results, do we tell the patient?” … ultimately 23andMe (and potentially others) provide results directly to the consumer (with well considered caveats as indicated) … there is a non-trivial question about this path vs having the information provided back via a consulting service/doctor/etc. This problem becomes more interesting as we move from testing 500,000 points to testing the full six billion base pairs in the full (46 chromosome) genome, along with all of the epigenetic factors. Given that set of results and the computer programs that will scan and compare to reference results at places like Geonome.gov an individual (or medical professoinal) can see both what is currently know, and then get constant updates as new research reveals new relationships.
    This can go both ways: A person may discover years after the initial testing that their genome contains a sequence just discovered to be tied to a given disease; and then years later informed that the epigenetic elements of their genome block the manifestation of that disease.

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