“I want the country that eliminated polio and mapped the human genome to lead a new era of medicine, one that delivers the right treatment at the right time.” So said the president of the United States in his State of the Union Address on January 20, 2015.
By calling attention to the promise of personalized medicine, the president underlined what has been the central contention of the Personalized Medicine Coalition for a decade: linking therapy to diagnostics and thereby targeting the right treatment to the right patient at the right time will lead to a paradigm shift in modern medicine, improving outcomes while lowering overall costs. To be sure, the road is long, opposition real, and the president’s proposed investment of $215 million in fiscal year 2016 relatively small, given the stakes and the opportunity.
But a closer look at the president’s Precision Medicine Initiative reveals its potentially transformative implications for the future of medicine. Even if small and only for 1 year, if Congress approves, the new program will transform the nature of the biomedical research enterprise, a fact not unnoted by the White House, which calls the initiative “a bold new research effort to revolutionize how we improve health and treat disease.”
In particular, the president wants to:
• Add $70 million to the budget of the National Cancer Institute (NCI) to study the genetic factors that cause cancer
• Add $10 million to the budget of the Food and Drug Administration (FDA) to develop new approaches for evaluating next-generation genetic tests
• Add $5 million to the budget of the Office of the National Coordinator for Health Information Technology to support the development of interoperability standards and requirements that address privacy and enable secure exchange of data across systems
• And, most importantly, add $130 million to the budget of the National Institutes of Health (NIH) to build a “voluntary national research cohort” of a million or more volunteers in order to better understand the etiology of health and disease.
According to the White House, “Most medical treatments,” as proponents of personalized medicine have argued for some time, “have been designed for the ‘average patient.’ As a result...treatments can be very successful for some patients but not for others.”
Advised by NIH Director Francis Collins, MD, PhD, and NCI Director Harold Varmus, MD, the president is proposing that we embark on a new era of discovery and delivery that places the individual at the center of his or her healthcare. It proposes creating, over time, a healthcare system that eschews one-size-fits-all, trial-and-error medicine in favor of a targeted approach that will deliver better results at a lower overall cost.
What makes this vision possible and, in 2015, realistic, as Drs Collins and Varmus wrote in The New England Journal of Medicine for February 26, have been the creation of new methods of distinguishing among patients that include proteomics, metabolomics, genomics, and other molecular assays as well as computational tools that facilitate the development of large-scale databases, which can be used for research.
As they note, significant progress has already been made in understanding and therefore treating cancer as a genetic disease. The proposed additional investment in cancer research builds on ongoing success in developing targeted treatments.
With the declining cost of sequencing and the increased ability to integrate multipanel arrays to produce clearer and more informed analyses, diagnostics are becoming more sophisticated and important in the practice of medicine. Increasing investment, therefore, in regulatory science will help allow the FDA to keep up with a rapidly evolving field and thereby ensure that the new tests coming on the market are accurate and reliable.
Aggregating data from multiple sources provides a foundation for personalized medicine. Therefore, it also makes sense to invest in ensuring that those data can cross systems to inform treatment, as the president proposes.
But most importantly for the future of biomedical research is the proposed creation of, in Drs Collins and Varmus’ words, “a longitudinal ‘cohort’ of 1 million or more Americans who have volunteered to participate in research.” By collecting biological specimens, including DNA, combining them with environmental information, and linking the data to electronic medical records, researchers will finally have the instrument they need to understand individual variation. They will be able to ask the right questions and derive sophisticated answers that will produce individualized, and therefore more effective, treatments in the future.
Together, these 4 integrated programs put the federal government’s research agenda squarely on the side of finding the right treatment for the right patient at the right time. As the president said, “Something called precision medicine (in some cases, people call it personalized medicine) gives us one of the greatest opportunities for new medical breakthroughs that we have ever seen.”