As a nation, we have engaged in many debates and much discourse on how to improve America’s health care system. There has been an understandable focus on the well-trod issues, such as health costs, access, and the specifics of a number of health reform plans. Let me offer one more issue that I believe deserves attention at the presidential level: the developing revolution of personalized medicine and genetic testing.

Why this topic? Because genomics-based medicine will very likely have as much effect on the nature of health care as any other health issue that is currently on our nation’s health policy radar. In fact, many of the complex issues underlying the health reform debate — high costs, overutilization, patient safety, appropriateness — will be directly influenced by the policy course this nation sets on personalized medicine.

Let me be clear about what I mean by “personalized medicine.” I define it to encompass all the discoveries and knowledge about disease and treatment that have come from the mapping of the human genome. That includes genetic tests that can read the individual’s genetic profile and genomics-based treatments that can “fit” the disease precisely. We are already seeing the effect of this personalized approach in improved diagnosis and treatment in leukemia, breast cancer, colon cancer, and cardiovascular conditions, among others.

The Hurdles To Realizing A Future Of Personalized Medicine

Unfortunately — and this is another reason the attention of our nation’s leadership is needed on this issue — there are significant hurdles that need to be overcome if we are to realize the bright health care future promised by personalized medicine. There is more genomic research and discovery that needs to be accomplished. There are important economic and regulatory questions that must be addressed—especially as the new science of personalized medicine races past old models of regulation and reimbursement at warp speed. There are challenging socioeconomic and ethical questions to be answered if many of these tests are to be made widely available.

That then leads to issues of insurance and coverage. And, then of course, there is the major question regarding whether the federal government — as the largest purchaser of health care services — should use its influence and buying power to place a greater emphasis on testing, early diagnosis, targeted treatment, personalized health management and disease prevention in shaping this health care future.

As the medical journal The Lancet recently editorialized about genomic research, “Doctors must offer the best evidence-based care to their patients, but also face an obligation to look to the future as knowledge evolves.” The same advice applies to policymakers, most especially to the administration that takes office in January. The promise of personalized medicine is great, but the prospects for realizing its full potential depend heavily upon the willingness and skill of policymakers in understanding and thinking creatively about this evolving new knowledge and affirmatively addressing the hurdles that stand in its way.

For example, the research and discovery that has taken place to date is only a brilliant beginning. Robust research — supported by adequate funding — must continue to identify linkages between single genes and increased susceptibility to specific diseases. As Dr. Francis S. Collins, former head of the National Institutes of Health (NIH) National Human Genome Institute, has pointed out in a 2005 Boston Globe opinion piece, each gene discovery of this kind gives us new insight into the biological basis of disease, thus providing new targets for treatment and prevention.

But research and discovery must also continue at an even higher level of complexity — identifying the interactions and ultimate impact of large groups of genes that control drug metabolism within the body. By uncovering these gene “pathways” in which perhaps hundreds of genetic structures interact and influence how a patient or a disease responds to a particular drug, we can identify those patients who will — and will not — be helped by a particular medication. This, in turn, can reduce the likelihood of toxicity and adverse drug reactions.

We must then translate this knowledge into clinically useful tests and treatments that can serve patients in everyday health care settings. A “must-read” in this area is a 2006 White Paper published in the Annals of Internal Medicine by the NIH Pharmacogenetics Research Network, a multi-institution collaboration of scientists, which lays out the framework for this emerging, highly promising field of research.

Personalized Medicine Offers Cost And Quality Gains

Continued research and discovery in this area is especially important because it holds strong potential for improving both quality and cost savings — underlying goals of each of our political party’s health platforms. Every year in the U.S., there are two million serious adverse drug reactions and 100,000 deaths. That makes adverse drug reactions the fourth leading cause of death — ahead of pulmonary disease, diabetes, AIDS, pneumonia, accidents, and automobile deaths, according to the Food and Drug Administration.

The economic toll exceeds $136 billion per year, greater than the total costs of cardiovascular or diabetic care. In fact, the mean length-of-stay, cost, and mortality for patients with adverse drug reactions are double that of other patients. By identifying which disease pathways respond to which drugs, we can potentially eliminate economic waste at the very time that we improve patient safety. Thus, personalized medicine and pharmacogenomics offer cost and quality improvements outside of the command-and-control regulatory and reimbursement structures that have been the tools of choice in seeking these goals in the past.

Modernizing The Regulatory And Reimbursement Architecture To Support Personalized Medicine

Indeed, one of our biggest tasks in personalized medicine will be to draw from the future, not the past, in constructing a regulatory and reimbursement architecture. We know what doesn’t work: regulation that does not allow for rapid integration of the latest in medically important innovation and information. Genomic science advances too rapidly to survive that environment, but, more importantly, many patients don’t have the time to wait. When you realize, for example, that the one-year survival rate for pancreatic cancer is only 24 percent and that of stomach cancer is 51 percent, you begin to understand that slow-motion regulation can be deadly. That’s especially true when you see the impact that personalized medicine in having in other types of cancer, such as leukemia.

That said, there is no question that the existing regulatory paradigms of the FDA, as well as the Centers for Medicare and Medicaid Services (CMS), which regulates laboratory quality under the Clinical Laboratory Improvement Amendments (CLIA), must be updated to keep pace with the rapid advances in genetic testing and personalized medicine. Both CLIA and CMS oversight must be strengthened, and there must be greater interagency coordination between the FDA and the CMS. To provide valuable data on outcomes and to further reassure patients, a test registry should be developed. Any new regulatory actions should not create undue burdens that will stifle innovation or restrict patients’ access to these valuable services.

Beyond the complexities of funding and regulating this new paradigm of health care are the often vexing issues of insurance coverage of these diagnostics and therapeutics, as well as the ethical implications of genetic research, genetic testing, and genomic therapies. The recent passage of the Genetic Information Nondiscrimination Act of 2008 (GINA) takes important first steps in providing greater assurances to an appropriately skeptical, yet nonetheless engaged and informed, public on the benefits of genetic testing for their future health and welfare. Perhaps of equal importance, GINA is a reminder that we can construct solutions to thorny issues that undoubtedly will arise as part of personalized medicine. It is a reminder that open minds and creative policy making can counter the “future shock” that many may feel in the face of such dynamic medical science.

The national debate also needs to include agreement on the necessity to provide insurance coverage and payment, both public and private, for those genetic tests and therapeutic interventions with proven benefit to health care. With regard to payment for genetic tests, the old regimes are, once again, non-starters. For example, the Medicare fees for laboratory services were set in 1984 — and have been declining since then. Who can believe that this will provide the incentive for investment needed for further innovation?

More broadly, of course, there has been much discussion of value-based pricing — a concept that links payment level to the value provided to patients, providers, and the U.S. health care system. While this may be methodologically complex, it reflects economic common sense. Technology that provides demonstrated value should be rewarded; technology that does not should not.

As is often the case, technologic innovations in science and medicine progress faster than our understanding of their social and ethical implications. This is especially true for genomics and genetic testing. That same wary public, and the elected officials who serve to protect us, have concerns about the medical utility and usage of these innovations. We must balance our interest in technologies that “may help me” with “what are the unintended consequences” of their use. The Secretary’s Advisory Committee on Genetics, Health, and Society (SACGHS) continues to engage this discussion at a national health policy level, and numerous professional and consumer groups are adding their reasoned thoughts and ideas to this necessary debate. This is a sound, healthy process that must continue.

Reducing Inappropriate Utilization Through Personalized Medicine

Finally, a word must be said about perhaps the most significant underlying cause of skyrocketing health costs: inappropriate utilization. We all know the myriad of policies and incentives that lead to this, but what is too often overlooked is how personalized medicine can help unravel it. One of the best examples is reflected in the fact that even blockbuster drugs provide only limited degree of efficacy in as much as 70 percent of patients. Indeed, the rate of efficacy for standard drug treatment in cancer is only 25 percent, in osteoporosis is 48 percent, and in cardiac arrhythmias is just 60 percent.

If we provide patients with more targeted therapy — based upon their genomic profile — that is also guided by diagnostic testing, we have clear potential to improve that impact. The economic savings here are also impressive. The costs to the health care system of ineffective therapy have been estimated to reach as much as $1.2 billion for hypertension medications, $4.7 billion for antidepressants, and $8 billion for statins for cardiovascular disease.

In conclusion, let me say that our next president will have the opportunity to do more for patients and health care consumers than any of those who have preceded him into the White House. With the right leadership, we can create a more effective, more cost-efficient health care paradigm that can enable millions of Americans to prevent disease and live longer, healthier lives.