Precision Public Health and Precision Medicine: Two Peas in a Pod

March 2, 2015 by Muin J Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and Prevention

two peas is a pod: first pea has a crowd of figures with one under a magnifying glass- second pod has that individual being examined by a doctor- the pod has DNA on it

two peas is a pod: first pea has a crowd of figures with one under a magnifying glass- second pod has that individual being examined by a doctor- the pod has DNA on it

The 2015 US Precision Medicine Initiative promises a new era of biomedical research and its application in health care. The initiative is enabled by rapid advances in biomedical sciences, including genomics and bioinformatics, as well as the progress in communication, information technologies and data science. Targeted cancer therapies are a near term goal for this initiative.

These same technologies are ushering in a parallel era of “precision public health” that goes beyond individualized treatment of sick individuals. The word “precision” in the context of public health can be simply described as improving the ability to prevent disease, promote health and reduce health disparities in populations by: 1) applying emerging methods and technologies for measuring disease, pathogens, exposures, behaviors, and susceptibility in populations; and 2) developing policies and targeted public health programs to improve health. We are currently seeing the initial drive towards precision public health but much more work lies ahead, especially in collaboration with health care. The following are emergent areas and some examples.

Improving Early Detection of Pathogens and Infectious Disease Outbreaks

One priority for precision public health is the use of genomics in the investigation and control of infectious diseases. The increasing availability and affordability of genomic technologies is rapidly changing the practice of microbiology. These technologies deliver more precise information on infectious agents while reducing reliance on time-consuming and costly traditional diagnostic methods. Enhanced bioinformatics capacity is revolutionizing the ability to detect, track and respond to infectious disease threats. In 2014, CDC launched the Advanced Molecular Detection infectious disease initiative to improve the ability of public health to detect outbreaks sooner and respond more effectively, saving lives and reducing cost. Examples of early success include tuberculosis and food safety.

Modernizing Public Health Surveillance, Epidemiology and Information Systems

Another priority is the use of information technologies and data science in enhancing the precision and speed of public health surveillance and tracking.Public health surveillance[PDF 876.86 KB] is the systematic, ongoing collection, management, analysis, and interpretation of data to stimulate action. The best recognized use of surveillance is the detection of epidemics and community health problems. This is where big data and data science have the potential to accelerate early detection of outbreaks and other community health issues. For example, the detection of the cholera outbreak in London and its association by John Snow with the Broad Street pump as the source of the outbreak would have been accelerated by modern information systems leading a famous bioinformatician at Harvard University to state. “Today, Snow might have crunched GPS information and disease prevalence data and solved the problem within hours.” In addition, enhanced health information exchange will accelerate the timeliness and completeness of electronic laboratory reporting for notifiable infectious and non-communicable diseases.

Population data are also used to detect changes in health behaviors, monitor changes in environmental exposures, and to evaluate control measures. Surveillance will benefit greatly from the availability of new data sources such as electronic health records and communication methods such as mobile technologies to track health behaviors, environmental hazards and disease outcomes. There has been a doubling every 5 years of the number of mobile devices connected via the Internet, leading to an estimated 50 billion in 2020. The growth of interconnectivity in digital information can be used to monitor health both at the individual and population levels. Population disease registries and surveillance systems maintained by public health departments (such as cancer and birth defects) will benefit from enhanced information exchange with health care and the availability of more accurate data on health outcomes and management.

CDC’s new surveillance strategy for the 21st century[PDF 110.88 KB] will jumpstart the accelerated use of emerging tools and approaches to improve the availability, quality, and timeliness of surveillance data for policy and decision makers. The surveillance strategy will also enhance linking public health data with clinical systems and healthcare professionals. The Health Information Technology for Economic and Clinical Health Act (HITECH) and the associated Meaningful Use requirements are an unprecedented opportunity for clinicians, healthcare providers, and public health officials to benefit from greater electronic connectivity, public health reporting, surveillance and tracking of health outcomes and effectiveness of laboratory tests and interventions in the “real” world.

We are witnessing a radical transformation of the field of epidemiology, the fundamental science of public health, to include and integrate disparate sources of data and data collection methods. New terms have been coined to describe this transformation like digital epidemiology as well asinfodemiology and infoveillance.

Targeting Health Interventions to Improve Health and Prevent Disease

A third area of precision public health will result from specific advances in biomedical and public health sciences to target disease prevention to subsets of the population at high risk. For the use of genomics in healthy populations, this could take years to mature; however, there is an emerging list of genomic applications that merit a population level approach, such as finding undiagnosed patients and their relatives with selected genetic disorders for which interventions can save lives. For example, the use of genome sequencing in healthy populations has already been proposed both to complement newborn screening programs, and to develop novel adult genetic screening for selected conditions. Genomics, however, is only one of many avenues for identifying high risk populations for screening and interventions. CDC’s public health programs already use targeted approaches, for example, by recommending screening for hepatitis C in people born from 1945 through 1965 (baby boomers) and identifying people with prediabetes through the National Diabetes Prevention Program.

There are many challenges for precision public health including developing a strong evidentiary foundation for using new methods and technologies, building a sustainable informatics capacity to enhance connectivity and interoperability of various systems, dealing with various ethical and social issues such as privacy, educating the public health workforce about the use of new technologies, and empowering the public with unbiased and accurate information that can improve health. Finally, only through the collaboration of health care and public health will we achieve optimal population health outcomes. These are the early days of precision public health and it is not just about “genes, drugs and disease.”

March 2, 2015 by Muin J Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and Prevention