The Public Health Case for Direct-to-Consumer Personal Genomics
OK - A couple more thoughts on this move by health departments in California and New York to regulate personal genomics. I've made my quasi-libertarian case that this is my information and shouldn't be mediated by an under-informed (and possibly antagonistic) physician gatekeeper. And I'll leave the companies to make their own case on the issue of lab oversight. But now let me make an argument on public health grounds - the home turf, after all, of these state agencies. To my mind, their actions will directly contravene their own mandate, and will have the result of reducing the public's health.
The California DPH says it's acting to "protect consumers." As Wired Science's Alexis Madrigal ferreted out, in a nifty bit of reporting, CDPH's Karen Nickel said in a June 13 meeting that the state's primary concern is that personal genomics companies are creating the "worried well" - citizens who stumbled into a level of knowledge about their genome that they were unprepared for, and now have may be fretting in a a way detrimental to their health & well being. Put aside the fact that, as a public health matter, the "worried well" is a supremely thin basis for action (what pray tell is the prevelence of "worried well" in California? The incidence? The relative risk of learning one's genome? What sort of epidemiological studies have been performed to measure this population?). And put aside the fact that, as others have noted, the customers of 23andMe and Navigenics and other personal genomics companies are, in demographic terms, probably the *least* likely to be categorized as "uninformed" or naive. These are early adopters, they're paying lots of money (opting-in), and are probably far more prepared to reckon with genomic information than the typical citizen. But put that all aside.
My argument is simply that by restricting personal genomics to a physician-vetted service, these state public health departments would be eviscerating the actual public-health utility from genomics. The whole *point* of learning one's genomic predispositions is as a predictive and preventative tool. Learn early, so as to change our behaviors, intervene early, and either skirt or reduce the prospects of disease. This is a *long term* tool. But by regulating the service, these state health departments would severely impinge the opportunity to make the largest public health impact, in two specific regards:
1) Public health, by definition, is about populations, not individuals, and Nickels makes a quasi-population argument when she identifies this group of "worried well." OK, let's take a stab at quantifying this. The worried well would be some fraction of personal-genomics customers; let's give Nickels a big gimme and say that 20% of customers would somehow overreact in a way that's detrimental to their health (I'm of course making that up, and it's almost absurdly high, but let's go with it). Stress would be the most obvious detriment, but it could be something like taking unnecessary medication or supplements, etc.
Now consider what percentage of personal-genomics customers actually engage in their genomic information in a way that's *beneficial* to their health, as intended. These people pay their money, get their results, spot their risks, and change their lives, often in small ways or rarely in big ways. Let's low-ball it and say that 60% of all customers act on their results (paying $1,000 or $2,500 is actually a significant motivator, but let's assume 40% just ignore the results altogether). And of course not all results would be positive; some would be null. So let's take another slice and say some fraction of the 60% actually measurably benefit, either in peace of mind or in some slight amelioration of diet and exercise or doctor's visits. Let's say half of the 60% - so 30%. Even at that low number, that is very clearly a net positive - the public's health at large has been improved.
Of course, I'm making up these figures, and really it's probably impossible to measure (though I bet 23andMe and Navigenics are crafting customer surveys to help fill in this picture). But really, by any informed assessment, the net potential for improving the public's health far outweighs the possible detrimental effects of "worried well." Just as vaccines and even exercise already have their detrimental side effects, sure, so will personal genomics. But if you're tasked with improving the public's health, as these agencies are, why not consider the benefits as well as the risks?
2) So genomics are useful as a predictive tool, they give us a peek into our longterm health prospects and an opportunity to intervene and improve those prospects. The fact that consumers in California can, for the moment, engage in that information now at their own behest means they are getting the information when they want it, which is by definition as early as possible.
So what's the logical consequence of forcing a physician into the picture as a middleman? Well, it's a pretty good guess that it'll delay people from getting the information. Put physician-phobias and reluctance to schedule a visit and all sorts of other procrastinations together, and I think this would result in less and later genotyping; both a significant delay in when this information reaches people - as well as a significant reduction in the number of people who actually bother to jump through these extra hoops. The net result, again: a squandered opportunity to impact the public's health.
I would be the first to acknowledge that the actual science is fairly raw here; we're in the early days of using our genomes for actual health decisions. But that's the point: better to get familiar with the information now, when it's fairly low-impact, and work out the kinks than to wait for the science to somehow emerge fully-formed and neatly packaged. Because if we're waiting on the physician community for that day, it'll never come.
But assuming the public health department acknowedges that genetics *does* have some utility for our health, then I'd remind them that a fundamental principle of public health is awareness - give citizens information earlier so that they can avoid putting themselves at risk. That principle drives public health's actions against smoking, infectious disease, sexually transmitted disease, natural disasters, and so many other threats. Likewise, it drives their actions on positive behaviors like proper nutrition and exercise. So why, in the case of genomics, should the same principle not apply? Why, in this case, do state health departments think the public should be prevented from learning about their risks?