• Government & Policymakers
• Gregory Downing, D.O., Ph.D.
• Francis Collins, M.D., Ph.D.
• Janet Woodcock, M.D.
• Michael O. Leavitt

Gregory Downing, D.O., Ph.D.

Personalized Health Care Initiative

Dr. Gregory Downing, Project Director for the Personalized Health Care Initiative in the U.S. Department of Health and Human Services (HHS), coordinates efforts throughout the government on policies and projects related to personalized medicine. The Initiative is a key component of the current presidential administration's strategy to transform health care.

In a conversation with Dr. Downing in October 2009, we asked him about the role of government in catalyzing discovery, building the infrastructure for delivering personalized care, and promoting its clinical acceptance.

Q: How is HHS promoting research in personalized medicine now?

A: We have a large number of programs under the HHS umbrella right now that are related to personalized medicine, and they are starting to have an impact. These programs are focused on understanding genetics and their interaction with the environment and how that knowledge can support public health and medical applications. The Cancer Genome Atlas (TCGA) project, as one example, has been characterizing and sequencing the genome of many different tumor types, providing a tremendous boost to oncology research, and giving us a "higher resolution" picture of the various subclasses of tumors, and how they might respond to treatment. The FDA has also been pioneering in personalized medicine by encouraging the submission of genomic data on a voluntary basis from drug innovators, and working with them to develop biomarker-guided clinical trials.

Q: What are the different ways that the government can advance personalized medicine?

A: We can and do play an important role in catalyzing research toward things we think are an important benefit to society. So of course we fund research projects, but we also serve as a conduit for developing communities among the private sector, academia, and other non-governmental organizations. We expand partnerships and engage new groups with the technology space that normally might not have been involved at an early stage, such as the health care delivery and health insurance industries. Agencies such as the Food and Drug Administration (FDA), the Center for Medicare and Medicaid Services (CMS), and the Centers for Disease Control (CDC) work with stakeholders in personalized medicine including patient advocacy organizations, universities, and industry and other research communities to overcome problems or challenges in regulation, delivery of care, and public health. One of the positive signs we are seeing is much more inter-institutional collaborations and sharing of research information. To meet the evidence needs of personalized medicine, there's a need for data on sub-segmented populations that will have to be identified from larger population bases than can be assembled in a single study or institution.

Q: What are the most pressing issues on the agenda right now?

A: A really hot issue is the demand for evidence-based medicine and comparative effectiveness research, which will form the basis for insurance reimbursement in the future. Government will play a key role in defining the standards and parameters for collecting and assessing medical data. This is going to be really important for personalized drugs and diagnostics, which are unlikely to be accepted by insurers until there is hard evidence that they offer improvements in health outcomes.

The government is also taking an active role in creating a health information technology environment where that evidence is ultimately presented to guide decision making in a clinical scenario.

Q: What kind of resources do we have now that we did not have five or ten years ago that make it possible to bring personalized medicine to the patient?

A: Certainly, the technologies around genomics—measuring genes, proteins and other molecular components—have become very robust, and they are beginning to be used in clinical settings. It is even packaged into kits where you can ship it across the country, put it in a handheld device, and get a reproducible diagnostic readout. The analytics and software technology is also getting much better in its ability to process the tremendous amount of data being generated from genomics.

We are still a far way off from having personalized medicine fully integrated into the clinical environment. That will ultimately depend on the electronic health record infrastructure, but that is starting to emerge as well. Fortunately, there are a lot of resources being added to the system now from the American Reinvestment and Recovery Act including, most importantly, health information technology and electronic health records. I think those things are coming together. There will be some bumps along the way, but at least now we can see the future of personalized medicine on the horizon.

Q: You were instrumental in leading the development of the Advanced Technology Initiative at the National Cancer Institute. Many of those programs have contributed to personalized medicine. What is your assessment of their impact?

A: Those programs are now about five years old, and looking back, I think they really demonstrated how we can pull together teams from different disciplines and different geographic locations to work together on complex issues in technology. These have been milestone-based programs that have delivered valuable data on proteomics, biomarkers, nanotechnology and other areas into the public domain. We can now point to a very large number of other projects, both in the public and private sectors, which have been catalyzed by the Advanced Technology Initiative.

Q: HHS is not only advancing high technology, but it is also promoting low-tech approaches like family histories. How do family histories fit together with genomics and other advanced technologies?

A: A recorded history of inherited traits and disorders, as well as ailments that one might not initially suspect as being inherited, can offer many opportunities for prevention and preemption of disease. We've known for many years that most diseases are influenced not only by our genetics, but also by diet, nutrition, and physical activity. A family history can help individuals process all of that information, determine their risk of disease, and plan accordingly. It can also help them manage the health of their extended family including their children.

Ultimately, we would like the family history to be integrated into an individual's electronic health record, so their care providers can make better informed clinical decisions. Connecting family history to the electronic health record will also stimulate discussions between clinicians and their patients with regard to health risks and the need to screen for diseases such as colorectal cancer, diabetes, asthma, and heart disease.

Q: Do people seem interested in tracking their family health history? Are they using the HHS tool?

A: Absolutely, we are seeing that consumers want to have tools that they can use and control to help manage their own health information. The family history tools we are providing are fairly straightforward. Ultimately, with widespread use, we can begin to learn a lot more about the outcomes of various treatments and the effects of our environment, such as where we work and live, and the effects of lifestyle choices.

We should remember that there are still many factors outside of technology that are changing the landscape of personalized medicine. The last two years have actually been a watershed in terms of building confidence among the public that this information is being used to support their interests and needs. For example, the passage of the Genetics Information Non-discrimination Act (GINA) has been an important step forward, and there are now a growing number of programs, centers, and even entire hospitals cropping up, entirely dedicated to the personalized medicine approach. I could not have predicted this four years ago. Some things have advanced more rapidly than expected, some things more slowly; but at this point I can say with confidence that we will continue to make important moves forward over the next four years and beyond.

View of the Expert posted October 2009