The Impact of Science Policy on Precision Medicine
By: Lanyn Perez Taliaferro
Scientific and technological breakthroughs such as rapid genomic sequencing have increased our understanding and knowledge of the underlying molecular basis of diseases. Molecular biology research has revealed cause and effect at the genetic level; a modification in one gene can lead to a pronounced biological change. This small window into our biological system allows us to solve medical problems that we once only dreamed possible; we are able to diagnose and treat many diseases that were once death sentences. Clearly, innovative scientific thinking is essential for a successful healthcare system that will impact our overall lifespan and quality of life. Similarly, the implementation and effective use of such technologies is dependent on strong public health and science policies. As a result, science policy makers must evolve to keep pace with ever-changing advancements in science and medicine.
Current advancements in personalized or precision medicine although promising, face great hurdles. The benefits of precision medicine from a patient perspective is clear; reduction in side effects, more effective treatments, and potential improvement to overall health. In addition, precision medicine provides economic incentives to the health care system. Promises of increased safety and efficacy of drugs, fewer adverse reactions, and shorter medical stays are likely to decrease healthcare costs. Even with such clear benefits, precision medicine still faces many challenges in its development, regulation, and implementation. The first hurdle begins with the basic foundation of precision medicine, which is the use of complex biomarker-based diagnostic tests. These tests must undergo regulatory evaluation to ensure the tests are valid and useful. However, it is unclear which agency should regulate the use of these diagnostic tests since they will ultimately be used in medical practices. Currently, the FDA regulates commercial in vitro diagnostics as medical devices under the Clinical Laboratory Improvement Amendments (CLIA) of 1988, but the guidelines are not clear. Unfortunately this gray area will become a bigger concern as the biomarker diagnostic industry grows and more tests are developed. In addition, some worry that the FDA may try to regulate the practice of medicine.
Second, the healthcare system must be ready to implement the use of such technologies. Will these tests be covered by health insurance? Are the computer systems well adapted to handle the influx of large amounts of data? How will the results be analyzed? As more tests are developed, standardized methods are needed for the wide use of diagnostic tests in the medical field. Additionally, the medical staff must be trained in the use of these diagnostics. In 2010, the AMA council reported “only approximately 1,400 board-certified physician geneticists and about 3,000 board-certified genetic counselors,” underlining the notion that the majority of physicians lack the training and understanding of genetic and molecular science. Thus, if these diagnostic tests are developed will they be widely used or not?
Finally, the development of such personalized tests may prove costly by industry standards. Who will invest in the development of personalized diagnostics if there are no incentives? With such a weak infrastructure it is difficult to ensure sufficient return on an initial investment. Despite the odds, industry is still committed to the development of precision medicine. In a 2011 report by the Personalized Medical Coalition, John J. Castellani, President and CEO of the Pharmaceutical Research and Manufacturers of America, stated “ninety-four percent of biopharmaceutical companies are investing in personalized medicine research, and 100 percent said they are using biomarkers in the discovery stage to learn more about compounds.” Even with a commitment from industry more is needed for the success of precision medicine. Partnerships between scientists, regulators, physicians, and policymakers are of absolute importance.
The U.S. has shown a strong effort to promote the advancement of science and technology through previous programs including the Human Genome Project led by the National Institutes of Health (NIH) and the Department of Energy (DOE), and “Tools for DNA Diagnostics” a program directed by the former Advanced Technology Program at the National Institutes of Standards and Technology (NIST). These efforts are being continued through the Technology Innovation Program (TIP) at NIST. One of the missions under this program is to accelerate the advancement of personalized medicine. TIP has identified areas of critical need such as technologies to measure and evaluate proteomics in live tissue, integration of biological databases, and the need for a change in the one size fits all approach in biomanufacturing. Additionally, the Department of Health and Human Services (DHHS) has implemented policies to support the advancement of information technology as well as privacy and clinical decision support tools.
Precision medicine emerged through the countless scientific efforts made by many to uncover the molecular roots of disease. Basic research has and continues to generate information at a rapid pace, but its conversion into clinical application is much slower. Independent pieces of biological data must be correlated and linked like pieces of a puzzle in order to understand what they really means. Since this is clearly not an easy task, collaborative networks between government, industry, and medicine will be needed. Although the success of precision medicine yet requires a significant amount of work, its application is slowly becoming evident through the development of diagnostic tools already in use.
OECD, Policy Issues for the Development and Use of Biomarkers in Health, http://www.oecd.org/sti/biotech/49023036.pdf (2011)
 AMA, Policy Perspective on Personalized Medicine, http://www.ama-assn.org/resources/doc/washington/policy-perspective-on-personalized-medicine.pdf (February 2013)
 Personalized Medicine Coalition Members Newsletter, http://www.personalizedmedicinecoalition.org/sites/default/files/files/PMC_Summer_11_Newsletter.pdf (Summer 2011)
 NIST, http://www.nist.gov/tip/upload/tip-2010-annual-report.pdf (2010)
 NIST-TIP Advance technologies for proteomics, data integration and analysis, and biomanufacturing for personalized medicine, ,http://www.nist.gov/tip/wp/upload/healthcare_wp_11_16_10.pdf (October 27, 2010)