From Genes to Public Health 1996-2016: The Train Has Left the Station

July 6, 2016 by Muin J Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and Prevention

train leaving the station with DNA

In 1996, a working group from the Centers for Disease Control and Prevention published an article in the American Journal of Public Health entitled: “From Genes to Public Health: Applications of Genetic Technology in Disease Prevention.” The agency-wide group assessed the implications of the Human Genome Project and related technologies for public health and disease prevention. The article made the case for important public health functions in the emerging field of genomics such as: 1) assessing the impact of genes and genetic tests on population health; 2) developing policies related to the timing and use of genomics in disease prevention; and 3) assuring the implementation of genomic services and programs, reducing disparities, and evaluating quality and effectiveness.

The article concluded: “Although most current genetic tests are not ready for disease prevention, there is an important role for the public health community in translating genetic technology into disease prevention.”

After this article was published, CDC undertook a year-long “strategic planning” effort which led to the formation of the Office of Public Health Genomics in 1997. Since then, the office has served CDC programs, other federal agencies, state health departments, and other external partners by identifying, evaluating, and implementing evidence-based genomics practices to prevent and control the country’s leading chronic, infectious, environmental, and occupational diseases.

It is interesting to examine where public health is in genomics 20 years later. Clearly, genomics was not ready for prime time in 1996, but major advances have occurred in the past two decades and many genomic (both human and pathogen) applications can actually save lives and prevent disease today. The recent launch of the United States Precision Medicine Initiative and the Cancer Moonshot are also fueling additional hope (and some hype) for more advances that can impact people’s health and lead to better and more targeted treatments and prevention strategies for a wide variety of diseases across the life span.

In spite of both the promise and existence of evidence-based genomic applications, there remains real concern and skepticism about the value of genomics in improving public health. In my recent online “debate” with Dr Sandro Galea, Dean of the School of Public Health at Boston University, we discussed how genomics and precision medicine can lead to improved population health. Hype and hyperbole aside, the CDC Office of Public Health Genomics has advocated for a role for public health action in genomics beyond newborn screening . We have also made the case for a new era of “precision public health” which will use the full range of data from biological to social determinants of health to reduce the burden of disease and improve health equity around the world.

In 2011, the CDC Office of Public Health Genomics undertook a year-long multi-stakeholder planning effort that led to a new vision and plan for public health actions in genomics to save lives. As part of this new process, we developed a multi-tier process for prioritizing the implementation of genomic applications in the population. At the top of the list are selected tier 1 applications that have documented clinical utility and evidence-based recommendations for their use.

A quick perusal of the tiered list in our online Public Health Genomics Knowledge Base can show how selected genomic tests and applications already affect millions of lives in the US and around the world even with no new genomic discoveries made. Even today, many such applications, for example in cancer genetics, are not been implemented optimally in the population and with evidence of health disparities.

How public health has responded to this challenge at the national and state level was recently highlighted in the CDC Public Health Grand Rounds:“Genomics and Family History: Using Genomics for Prevention.” The session highlighted public health efforts in surveillance, policy and education and their impact on uptake on cancer genetic services.

In addition, the value of family history as a universal tool for disease prevention across the lifespan, not only for rare genetic diseases, but also for common chronic diseases has been recognized for the past decade, as highlighted by the Surgeon General Family History Initiative. However, most people still do not collect their family history and use it in the prevention of common chronic conditions of major public health significance, including, cancer, diabetes and heart disease.

In 2016, the CDC Office of Public Health Genomics is undergoing a new round of stakeholder review and analysis in order to influence new directions and focused activities for public health genomics. As part of this exercise, partners and stakeholders are voicing their thoughts about priorities and the added- value of genomics. While we are hearing about the continued need for a public health role to shape policy and implementation of genomics, there also remains deep skepticism about the role of genomics in public health practice. Some public health professionals strongly believe that genomics remains “about the future” and has little or no impact on population health.

As opposed to 1996, in 2016, the genomics train has already left the station and is already delivering cargo for use in health care and prevention. Millions of healthy individuals and patients with various diseases will be sequenced in the next few years. Pathogen genomics is used in both clinical and public health practice. In spite of healthy skepticism, it is high time for public health to be on the train in order to ensure a positive population impact of new technologies and to address health inequities, now and in the near future.

Going forward, the main question for the public health community is not whether but how it will get involved in shaping the future of genomics and precision medicine. We are interested in hearing your thoughts on:

Specific priorities for activities that should be carried out by the public health system in the next 5 years to apply genomic knowledge to public health goals
Outcomes that should be achieved
Opportunities and barriers for achieving these outcomes.

To submit your input and feedback, please post your comments below.

July 6, 2016 by Muin J Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and Prevention