The Importance of Balance in Evaluating DTC Genomics
Earlier this week the New York Times published a generally alarmist and one-sided piece (“Buyer Beware of Home DNA Tests”) advising consumers to steer clear of direct-to-consumer (DTC) genetic testing and genomic services providers. The Times piece advises consumers to opt instead for a certified medical geneticist or genetic counselor even as it acknowledges, in the next paragraph, “a relative shortage of genetic counselors to clarify the significance of test results, and the fact that most practicing physicians lack the knowledge and training in genetics to interpret them properly.”
There’s no need for me to dissect and evaluate the arguments against DTC genomics made in the article. That task has been ably carried out by Daniel MacArthur, Blaine Bettinger and Jens McCabe. And it’s worth mentioning that the Times’ DTC genomics coverage has been relatively rich and varied (see, e.g., the now infamous “spit party” coverage, 23andMe co-founder Anne Wojicki’s Q&A on the Freakonomics blog or Steven Pinker’s excellent piece in the Times magazine, “My Genome, My Self”).
I do want to weigh in, however, on the potential consequence of the paternalistic medical establishment viewpoint that is advanced in the Times article, which paints DTC genomics as an industry lacking in analytic validity, clinical validity, clinical utility and (in what was a new concept for me) “ethical validity.” In failing to acknowledge any of the benefits provided by DTC genomics (which MacArthur, Bettinger and McCabe all highlight), the Times article invites readers (including legislators) to plausibly conclude that a legitimate solution might be simplyto restrict the business of genomic interpretation to traditional medical professionals. This is, in fact, exactly what Germany is proposing to do on a national level, but this type of genetic paternalism—largely a byproduct of a genetic exceptionalism perspective—is an extreme position, with most legislators taking a more measured approach, at least to date.
There’s no doubt that there are substantial limitations to the services provided by DTC genomics providers, and it is important that those limitations be identified and presented to consumers, ideally by the companies themselves but, if need be, as mandated by regulation. But the services also have the potential to provide benefits to individuals, including the various forms of “personal utility” highlighted by the joint NIH-CDC workshop I reported on last month. Failing to recognize both that potential and the power of new technologies and business models to realize it risks turning our backs on just the kind of leading edge innovation that has created the potential in the first place. Regrettably, in assessing an issue that is all about the future, the Times’ prescription is entirely backward-looking.
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Dan,
I totally agree. This would be a travesty if we treated genes any different than we treat a cardiac panel. These are tools of medicine. I have a post covering my projected ideas for identifying what needs regulation further and what does not. Clearly, we need to define if these companies are practicing medicine. And if not, why not. And if so, how so. Then we can fit these “revolutionary” (You do know there have been DTC genetics companies for years?) companies into the appropriate column.
Until there is solid regulation, the Times is correct. It is “Buyer Beware” when it comes to DTC genomic testing, despite the name calling by bloggers in the space, the thrust of the article is reasonable. This IS the safe and proper attitude to take.
http://thegenesherpa.blogspot.com/2009/09/some-confusion-exists.html
-Steve
Too many comment threads in too many places but, for the sake of completeness, I’ll make the same point here that I’ve made, more or less, on your post and at Genetic Future.
Please clarify what type of regulation you would like to see. Over on your own blog you distinguish between red, green and yellow tests and then say that red tests (i.e., testing and interpretation of SNPs that are predictive of disease) must be regulated. But what does that regulation entail?
That such tests they may only be ordered by physicians? That they may only be interpreted by physicians? Is any MD qualified or are only those with sufficiently comprehensive and recent training qualified to interpret the results? Is it important to you that there is a sufficient supply of qualified interpretive organizations or individuals to meet demand for these tests/services (which you, the NY Times and others have recognized is not presently the case)?
Please correct me if I am wrong, but I assume that you envision a primary (and possibly exclusive) role for physicians in the ordering and/or interpretation of what you refer to as red tests. If that is the case I do think that you need to more clearly address (i) the clear financial incentive to retain exclusive control over that domain and (ii) how and why physicians are uniquely qualified to serve as the gatekeepers of this particular form of information (as opposed to the delivery of medical care based on that information, which is a separate matter).
Thanks.
1. No exclusivity provided:
A. You take full responsibility without disclaimers
B. You provide full informed consent which requires subject demonstrates understanding of risks benefits and limitations of testing
C. You take an exam to prove your “up to minimum expectations” of the field.
D. And are required to re-test every set amount of time to make sure you stay up to date
E. Your algorithms are evaluated by a third party to determine if they are valid
F. You pay for insurance which covers you should a customer sue for damages or improper interpretation
Sounds a lot like medicine? That’s because it is Dan. There is a reason why doctors are required to do these things. It is to ensure public safety. Those laws evolved over decades and if the government were smart, it would replicate those laws, which is what also must be done here. Especially if doctors are going to “rely” on the testing company providing interpretation as demonstrated by the recent CDC study…….
2. The incentive to retain control is not fiscal. Hell, most doctors don’t get paid very well at all by consultation. The amount of users of these services is so very small that it is unlikely to be any fiscal benefit for at least a decade, imagine the time required to cover 150 SNPs. In one consultation, most insurers won’t pay for more. I won’t deny that increased consultations will increase pay, but I am here to tell you, that increase is likely just to be a percentage point at best.
3. Physicians are uniquely qualified because they are already regulated and it makes sense that they use this for healthcare (red tests). Because they provide the health care.
If this doesn’t sound reasonable, then I am truly an unreasonable man. But if this regulation is good enough for me, why not for them? What makes them so special that they should avoid it?
-Steve
http://www.thegenesherpa.blogspot.com
(as opposed to the delivery of medical care based on that information, which is a separate matter)
separate matter – that is an oversimplification. In the continum of care – they must be managed as one thread. Your commentary is missing the clinical frame of reference. Its almost as though you are suggesting people just show up at Quest Labs and bang out a few tests just for the heck of it and then call up their physician for a eConsult.
There must be a physician at the center of the clinical discussion – the nucleus. And they are regulated – for good reason. The wild west of DTC must be controlled – with immediate regulation – lest we bear the consequences of the irrational exhuberance around these activities.
It is either clinical or it is not. The days of the village Apothecary were left behind in the late 19th century.