On January 30, 2015, President Obama announced a bold funding initiative to support the sequencing of the genomes of a million volunteers and correlate the data with clinical information to allow a better understanding of the roles genes play in health and disease. This information will boost precision or personalized medicine and allow appropriate therapeutics to be targeted to those who need them — that is, getting the right drug to the right person. This is in contrast to our current “one-size-fits-all” approach to care, where more than half of major drugs are ineffective or cause unwanted side effects, and drug expenditures are currently about $320 billion a year and rising. Replacing that approach with one designed to meet the precise needs of the patient would not only be better medicine, but also more cost-effective.
President Obama’s announcement coincided with the ninth annual Personalized Medicine World Congress in Mountain View, California, which I chaired. At the conference, world leaders in personalized medicine provided a comprehensive overview of the field, spurring me to reflect on both the progress that has been made so far and the promise for the future. I concluded that although we have made a lot of progress in developing precision care therapies and diagnostic capabilities to treat certain diseases better, we haven’t yet started applying these technologies to prevent disease and make America healthier.
The ability to tailor medicine to an individual’s specific need stems in part from the genomic revolution first heralded by President Clinton in 2000, who predicted that the initial sequencing of the human genome would “… revolutionize the diagnosis, prevention, and treatment of most, if not all, human diseases.” Note that genomic research was expected to prevent disease as well as to treat it better. At the time of Clinton’s remarks, sequencing one human genome cost $400 million. Now, with breakthroughs in technologies, the cost has dramatically fallen to about $1,000, a very small fraction of the original cost. That means that performing gene sequencing on millions of people is feasible. Interpreting the clinical meaning of this data will allow a far greater understanding of one’s inborn health risks and the role genes play in disease development.
Reducing the cost of genome sequencing is just one of the advancements we’ve seen in personalized medicine. The pharmaceutical and diagnostic industries have jumped on the personalized medicine bandwagon in a big way. Along with phenomenal progress in genomic technologies, research breakthroughs in the last decade have enabled astounding new treatments for serious diseases and allowed scientists to develop new classes of drugs. Last year alone, five “targeted” drugs were approved for effectively treating lethal forms of cancer based on the specific genetic makeup of individual tumors and, this is just the beginning. Immunotherapy, cancer vaccines, gene therapy, and other approaches will provide major improvements in treating cancer, rheumatic diseases, liver disease, diabetes, cystic fibrosis, and others. It is estimated that by 2020, half of the major new therapies will be personalized medicines. Similarly, genomic sequencing is being used to develop diagnostics for early detection of cancer, fetal abnormalities, and transplantation graft rejection. Tools are being developed to assess an individual’s likelihood of developing various diseases as well as to determine how serious those diseases would be. Finally, genomic and related research is giving insight into basic disease mechanisms and fostering the design of therapies that are targeted to a given individual.
What I find surprising about the progress of personalized medicine is the great technical strides we’ve made in genome sequencing and in developing predictive diagnostics and targeted therapies. But equally surprising is the slow clinical adoption of personalized medicine as a means for prevention. As I said in my 2002 Chair’s address to the Association of American Medical Colleges (AAMC), personalized medicine was an opportunity to transform concepts of health care from focusing on treating established disease to an approach that would be personalized, predictive, preventative, and would engage patients in their care. If disease developed, therapies would be targeted to the needs of the specific individual. By 2003, we believed that the convergence of new technologies—including genomics, proteomics, and metabolomics—with the ability to amass great clinical data bases and the power of bioinformatics to understand the data could, in the aggregate, lead to a more rational form of preventative health care. The biggest payoff of genomics and other predictive technologies was anticipated to be in their ability to prevent diseases before precision therapies were needed.
But conventional medicine continues to focus heavily on treating established disease with a “find-it and fix-it” mentality. Care is reactive, focused on complications of disease, and uncoordinated. As a result, we have a health care delivery system costing almost $3 trillion a year. Eighty percent of our enormous health care budget is for the treatment of largely preventable chronic illnesses, such as heart disease and diabetes, which develop over long periods of time. Our nation is facing an epidemic of preventable chronic diseases and we can’t afford the consequence. Precision medicine will allow us to treat disease better but that is far from the whole story. Using genomics and other predictive technologies to quantify each individual’s disease susceptibilities would allow us to employ strategies to prevent these costly diseases before they develop. This is what personalized health care, the model I described to the AAMC in 2002, does. In this personalized, preventative approach, an individual’s health risks, whether determined by genomics or other risk assessment tools, would be used to develop a proactive health plan to improve that person’s health, minimize their disease risks, and provide them with precision therapy if needed. What people do before they get sick, particularly if they know they are at risk, can prevent the development of disease or greatly diminish its effects. This being the case, personalized health care engages patients as key drivers of their care by giving them the information they need to modify their behavior early.
What does personalized health care look like? Here’s one example. Rather than the current annual physical, which has been derided as a waste of money because it does not prevent disease or decrease mortality, imagine an annual personalized health care physical. The exam would be comprised of three components: first, assessing the patient’s unique risks for developing specific diseases; second, enhancing the patient’s understanding of their risks, increasing their engagement in their care through better awareness of what they can do to improve their health; and third, establishing actionable goals along with a plan to meet these goals over the course of a year and the support to realize that plan. Personalized health care is also an approach to more effectively minimize disease once it develops. Studies are ongoing to use personalized health care to slow or reverse the progress of diabetes and other chronic diseases. The personalized health care approach is being developed at Duke and elsewhere, and early indications are encouraging. In 2013, the Veterans Health Administration chose personalized, proactive, patient-driven care as one of its three strategic goals.
While the health care scene in the United States is changing to embrace prevention, one reason for the slow adoption of personalized health care is our medical culture that is steeped in approaches developed a century ago and resistant to new concepts. Perhaps even more important, the current reimbursement system rewards more reactive disease interventions—the more technical, the better—and does not reward treatments that heavily involve the physician’s time with the patient, a central feature of personalized health care. However, changes in reimbursement are beginning to encourage greater continuity of care and preventative approaches. The President’s initiative, along with bipartisan support to fund research to make disease treatment more precise, is laudable. When paired with a focus on personalized health care and changes in health care reimbursement, our current “disease care system” could change into one that will improve health, prevent disease when possible, treat it effectively if it occurs, and thereby, achieve financial sustainability.