My medical school classmates, Harvard physicians Jerome Groopman and Pamela Hartzband (who are married to each other), have railed recently against too much "cookbook" medicine.1 They have cogently argued that care of patients is an art; it may not be adequately represented in computer algorithms, treatment guidelines or glib quality assessment reports. They have supported the import that the professionalism, experience and expertise of physicians can bring to interactions with patients. This art in the practice of medicine yields many—and, Groopman and Hartzband would argue, necessary—variations.
But sadly this necessary art can account for a multitude of sins. From frank medical paternalism, like withholding key facts from dying patients, to unacceptable variance in interpretations of pathology or radiology data, to even the provision of unnecessary or harmful treatments, variability or artfulness in medical practice can be wasteful and deadly. How do we improve care and get the most out of the trust sick people place in their doctors?
One way, it seems to me, is to make patients and healthy citizens more knowing and independent actors in the health care system. Professional norms demanding real-time honesty with patients, medical malpractice suits, and the internet have all improved the power of patients in the doctor/patient relationship—and, I would posit, the quality of medical care provided. Measuring this change using outcomes like change in clinical outcome status could be very difficult at present, even if I am right!
If one's health and the management of illnesses are in fact one of the more basic personal responsibilities, then allowing people to pursue issues of prevention or disease treatment in whatever way they see fit could be reasonable. In such a model, government's role is to insure honesty in the representation and claims of safety or effectiveness, while physicians act as solicited providers of expert opinion. The empowered and knowledge-armed citizen is a key agent for the improvement of all aspects of health care and illness prevention.
That is why I founded in 1999 one of the first direct-to-consumer (DTC) genetic information companies (GeneSage Inc) and why I generally support efforts to expand this knowledge and service channel now. I fundamentally believe that we all have the right to know and test things about our bodies, unhindered by physicians gate-keeping those activities. Naturally if someone else is paying for those services (a government, employer or private insurer, for instance), they may have some input in to or influence on what they pay for; but the underlying "right to health" (as Franklin D, Roosevelt put it) lies with each of our fellow citizens and should allow for a wide range of affordable activities.
Because there is so little known about exactly how most of the human genome impacts traits and participates in disease, many of the early entrants into DTC genomics have made overly optimistic, exaggerated or false claims. This is, of course, true as well for all the physicians who have proffered misinformed advice for decades in the field. Some of the practices that are offered (DTC or otherwise) or that were noted in the recent Government Accounting Office investigation are bogus and should be curtailed. For instance, except in certain rare circumstances (for example, people with PKU should avoid phenylalanine), there is no genomic test for the right diet or exercise program that will yield better personal health. We may never see the day when attaching our DNA profiles to the grocery list as we head to the supermarket is a good idea!
But if someone wants to obtain a test that MAY identify a risk for disease or a susceptibility to a drug reaction, they should be able to do so without a physician's intercession. Those ordering such a test in person or from a website ought to have access to reliable and accurate data about what information the test may convey. They need to have a reasonable expectation of the quality of the lab that will conduct the test with access to easily understood lab performance data. Governments, professional societies, and good market practices should ensure those conditions are present. In fact, several states now allow consumers to order medical tests without a doctor's prescription.
23andMe and Navigenics are both companies I know and have advised. The tests they offer are pretty much "state of the art" in terms of assessing the genes of the human genome. Soon these companies or others will offer affordable sequencing assays of all the DNA in the human genome. It will be possible for many people to know exactly what nucleic acid sequences reside in the nuclei of most of their cells. Of course, the meaning of the huge preponderance of this data for an individual's health or disease development will take much longer to establish, and will ultimately be individualized, primarily by each of us. But as that knowledge becomes available—unevenly, influenced in many ways, and with continued debate—some people will want that information, and so-called expert debate should inform but not stop them.
In general, the prominent commercial entities in the DTC genomics marketplace provide understandable information, are dedicated to support and participate in important research to make the field better, and engage in good clinical practices. Others do not and should be identified and shunned by consumers as well as scrutinized by legally designated regulators from HHS and FTC (but not Congressional witch-hunts). In my view, more knowledge and more highly empowered, well-informed independently acting consumers are needed to push improvements in genomic medicine and in all aspects of health care. DTC genomics is part of that. How medical care is ultimately personalized should be a topic that individuals acting as citizens, consumers, patients and in other roles actively control.
Paul Billings, MD, PhD is a long-serving member of the CRG Board of Directors, a member of the HHS Secretary's Advisory Committee of Genetics, Health and Society, and in October will become the Chief Medical Officer of LIFE Technologies, a provider of tools and reagents for research and healthcare.
1. Groopman, Jerome and Pamela Hartzband, "What's Your Underlying Condition?" New York Times, Nov. 26, 2009.http://online.wsj.com/article/SB123914878625199185.html; "Why 'Quality' Care Is Dangerous," Wall Street Journal, April 8, 2009. http://online.wsj.com/article/SB123914878625199185.html.