‘Personalized Medicine’

by Steve Heilig, September 18, 2013

Technology rules our lives, or rather, those who develop and sell it want us to believe that. Those who are peddling all manner of genetic testing really want us to take it on faith that technology can tell us most anything we might want to know. Genetic assessment is even creeping into our pets' lives — for years now there have been plenty of companies who will, for a fee, examine some of your dog's spit and tell you that yes — he or she is a dog. As for the human side, we have truly entered that realm — most anytime I turn on my computer these days, various ads from outfits (like, say, “23andMe,” founded by the now-estranged wife of one of the “Google boys”) which offer to help you “learn about your ancestry” and “better manage your health” and more — if I'll only send in some of *my*spit and, of course, some money. “Find out things like if your body metabolizes caffeine quickly, or if you're at a higher risk for diabetes. The more you know about your DNA, the more you know about yourself” says their homepage — a statement which might seem obvious but begs the real question: Is that a good thing?

Not to pick on 23andMe, as they are only the most visible such “personal genetics” companies thus far, but there is at least one small problem: A lot of knowledgeable people are of the opinion that much of what such testing really provides us at this time is, to use a technical term, a lot of hooey. Make no mistake, genetics are obviously important and there are many cases, particularly in reproductive medicine, where knowing more about the genetic makeup of oneself (and, say, one's fetus) can be most helpful in making medical and personal decisions. But in most cases the conditions where this is true are relatively rare. For most of us, though it it may be fascinating, knowledge of our genetic makeup tells us little to nothing of practical import. And, need it be said, not much of such testing is done for free, or even cheap. But is it worth it?

In medical science there is a long if somewhat fringe tradition of “participatory research,” wherein researchers use their own bodies to test whatever drug, test, or theory they are looking into. Some have even put themselves at great risk by exposing themselves to infectious diseases or other hazards. A few years ago, a very good San Francisco writer named David Ewing Duncan did not go to quite that extreme, but he did explore deep within his body, including his genes, and wrote a book about his explorations titled “Experimental Man: What One Man's Body Reveals About His Future, Your Health and Our Toxic World.” In it he revealed much about both the promise and limits of the kind of personalized testing increasingly being hawked online and elsewhere.

Duncan began with a simple experiment, joining a fishing trip out of Bolinas Lagoon in Marin County, catching a halibut, eating from it in two meals, and in so doing drove his body's level of mercury to over double the recommended safety level. That was just the start, though; he donated numerous vials of his blood for testing by a wide array of scientists, both academic and commercially inclined, and spent considerable time in MRI machines having his brain scanned and the results interpreted. His intention was to examine his genetic makeup, brain and body and how environmental factors influence his body and mind in an attempt to “humanize science by having a real person with a family and children intimately participate in leading-edge technologies.” By so doing, he aimed to provide some insight into a coming “new era of medicine” wherein we will be able to “acquire profound new powers of knowledge about ourselves, possibly more than we want to know.”

Duncan purposefully lost his “genetic virginity” mostly so that scientists might tell him of his probability of developing various diseases. His brother — with whom he bicycled around the world for his first book, thereby gaining permanent coolness credibility — has a disabling condition traced to his genes; Duncan does not, but was told he is at increased risk for heart disease, among other potential hazards. He then underwent the new process of biomonitoring, or having his body checked for industrial chemicals, including even those he may have only been exposed to as a child. Of the 80,000-odd chemicals used in modern life, some are known to be hazardous to humans and many more are suspected to be. Duncan's tests found 185 of them inside him; “It was my own secret stash of compounds acquired by merely living.” He explored how some of these might interact with his genetic makeup and otherwise affect his health.

Moving to his neurological insides, Duncan turned his body and brain over to leading researchers at the University of California, San Francisco medical center, where a neurologist told him “We're taking an anatomical study of your brain and downloading it into a computer.” He underwent various cognitive testing for memory, reaction time and such as well. Finally, he had some more common tests, such as for cholesterol, to factor into all that has been learned about his body and brain to date. So, Duncan in fact did far more testing from more angles than any of the current “personal genetics” companies offer. And what might readers most want to learn from Duncan's travails — probably how such testing might benefit them, when it will be usefully available, and what it might cost?

The answers in his book are mostly not encouraging. As Duncan concedes, most of the diagnostic and predictive powers in such tests are nascent and if they do become truly useful, that time is still far off. In a blog post subsequent to his book, he warned that “Scientists don’t yet know what all our DNA does—how each difference in genetic code might influence disease or the color of your hair. Nor have studies confirmed that all the genetic markers linked to, say, heart disease and most cancers actually increase a person’s risk for these illnesses. Just as significant, the thousands of genomes being cranked out right now can’t easily be compared. There is no standard format for storing DNA data and no consistent way to analyze or present it.”

Don't expect the folks at personalized genetics companies to broadcast such facts. Many of the researchers Duncan consults — including his own girlfriend, he wisely discloses — have financial interests in bringing such tests to market. But he receives often-conflicting interpretations of his test results from various providers. More important, almost without exception, the independent scientists and physicians he consults about these new tests use terms like “tentative” or even “irrelevant.” Further, the recommendations offered by the true believers tend to be already well-established advice we should already know — exercise more, don't be overweight, don't smoke, drink alcohol moderately, beware of high blood pressure and so on. You don't need any genetic or other tests to know such things are good ideas, or to start practicing them. But these proven “interventions” don't make much or any profit for technology companies.

Duncan eventually had over 20,000 genetic traits identified, which provided him mostly with what he later termed “a DNA tower of Babel.” He was offered most of the testing free or at great discount, but the prices quoted in his book range from a few hundred dollars to as much as $40,000 — fees rarely, if ever, covered by health insurance, and so far with good reason. His own personal physician seems wisely skeptical, and a Harvard geneticist labels some of the new genetic testing “technology hucksterism.” Some very bright minds are betting big money on making bigger money from a high-tech version of “personalized medicine” where “diagnoses and treatments — everything from pills to surgery — will be customized to individuals based on their own genes, environmental input, and other factors specific to them,” as Duncan observes. One researcher working on a longevity pill modestly holds that “I don't think there is anything more important than this quest.” Which, as Duncan hints, might be disputed by the 2 billion humans who suffer without enough food; as the well-traveled Duncan relates, “I have seen countless people whose lives are hard and often miserable.” Even if these technologies become truly useful, he asks, “Who will have the time to analyze the data and to indulge the healthy in possible scenarios of future illness?”

It's a very good question, and much work is underway to better interpret genetic information. Eventually some more broadly useful medical information is likely to come from all this genetic testing. But for now and the near future, the answer to Duncan's question about who will really use personal genetic testing is still likely something like “Mostly relatively affluent, gullible, perhaps even narcissistic hypochondriacs — and health insurers looking for new ways to exclude 'risky' patients.” This latter group might be no small deal, as we increasingly learn there is very little privacy left in this world, including that of our “personal data.” Regarding, say, email, we are now told to assume that anything we write can be accessed by those who really want to. It might be smart to think twice about whether we wish that information to include our genetic makeup. That's certainly a “preexisting condition,” and while Obamacare now prohibits health insurers from factoring those into coverage decisions, the insurance industry is, well, industrious and might well find ways around the new law.

But again, personal genetic tests are now available and being pushed at us aggressively — sometimes with fishy-looking endorsements attached. And the marketing plays upon near-universal human traits like fear of illness and mortality, anxiety about uncertainty, and yes, self-absorption. A couple years ago, I informally asked a committee of a couple dozen physicians of many specialties if they thought the kind of genetic testing we're now seeing offered was truly useful for the average, or even many, of their patients. Not one doctor thought so, although some admitted the results could be “interesting — I guess.” Not exactly a ringing endorsement from the trenches of medicine, where doctors are increasingly besieged by the “worried well” who bring all manner of marginally relevant information into exam rooms, seeking certainty. The genetic technology companies are counting on such people — who again, would mostly be better-advised to spend the money on some exercise gear, a healthier diet, and if relevant, less — make that no — tobacco.

Thus, for for the foreseeable future the wisest approach to these experimental tests is nothing new, and of an entirely non-technological type: Let the buyer beware.

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