How personal genomics is rocking the boat

I’ve been doing some reading on personal genomics, direct-to-consumer genetic tests, and personalized medicine lately, in an effort to steep myself in the science and issues prior to starting work in this field. Today, I read an opinion piece by R. J. Carlson titled “The disruptive nature of personalized medicine technologies: implications for the health care system,” [1] that was especially interesting. Rather than expound on the usual arguments for or against consumer genomics, it laid out several important areas where personalized medicine and genomics technologies would disrupt the current system, often with brutal honesty.

Clearly, one of these areas is private health insurance. Describing private health insurance as “a hybrid of economic ruthlessness and utilitarian social policy … is supposed to perform the social policy role that the public sector can’t or won’t, and
that is to ration,” Carlson points out some sobering scenarios. One is that the Genetic Information Non-discrimination Act (GINA) covers only the underwriting process, and does not guard against denial of coverage or steep increases in premiums once a genetically-suggested condition manifests. Another is the moral and social dilemma posed by the knowledge – on either side – that those with “demonstrably superior health” are subsidizing care for those with “known genetic risk”. And, given the increasing knowledge we’ll have about health risks, it would be ridiculous not to use any of it in designing insurance packages. Carlson doesn’t paint this as a negative thing, necessarily, but instead calls on public policy to “facilitate the constructive uses of these data by shaping financial and access reforms to the genomics medicine that is arriving.”

The debate over health insurance is fairly familiar, however. What Carlson makes very clear in the rest of the piece is that personal genomics takes medicine in a fundamentally different direction than where it has been going for the last half century. Traditional modern medicine has focused on mechanism and reductionism, finding what’s wrong and fixing it, and applying that knowledge to new cases of the same thing. We use the fact that humans are more or less similar to enact standards of care.

But personalized medicine focuses on the differences between people and treats every patient as a unique case. This leads to two natural consequences: it makes medical care more costly, and it renders the standardization of medical practice obsolete, if not impossible. Of course, personalized medicine could conceivably be more cost-effective through better preventative care, but this is only if significant effort goes towards realizing this potential. And although I hadn’t thought about personal genomics in the context of evidence-based medicine, it’s not hard to see the conflict:

There’s the rub: to be effective, a personalized medicine must build on our ever more definitive differences, defying standardization for the very long haul, if ever. Measuring quality in health care under a genomics model is crudely analogous to measuring automobile fuel efficiency when every automobile is assembled from a wide array of materially different but functionally interchangeable parts, performs differently on every trip, and changes in performance with the moods and capacities of every driver.

This article captures the nuances of some very interesting challenges facing health care in response to genomics technologies with a view that is both realistic and optimistic. Carlson recognizes that the era of medical paternalism is giving way to democratization of health information, and we must adapt our policies to reflect this. Indeed, he argues that without active and careful management of this process, we may very well sabotage our ability to reap any rewards from this technology.

Definitely worth a read, and worth thinking about.

[1] Carlson RJ. (2009) The disruptive nature of personalized medicine technologies: implications for the health care system. Public Health Genomics 12(3):180-184.
DOI: 10.1159/000189631 [PubMed] [Journal]


One Response to How personal genomics is rocking the boat

  1. Mike Chelen says:

    Methods are useful if adaptable in radically different situations. A more detailed microscope image for example, is better than one with less accuracy.

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