September 1, 2014 (Vol. 34, No. 15)
Muin J. Khoury, M.D., Ph.D.
Scott Bowen, MPH deputy director Centers for Disease Control and Prevention
Going Beyond the “Bench to Bedside” Paradigm to Encompass Societal Benefits
Thirteen years after the completion of the Human Genome Project, an increasing number of genomic applications including next generation sequencing (NGS) are poised for clinical use. Fulfilling the promise of genomics to improve health in the real world requires a public health perspective.
As genomics reaches the bedside, a public health “post bedside” research agenda will be able to: 1) assess the contribution of genomics and other new markers to health and disease in the larger social and environmental context (2) evaluate promising genomic technologies for their potential to improve health and healthcare; (3) design appropriate strategies for integrating genomics into clinical and public health practice and ensuring access; and (4) continuously measure population health impact of these new technologies. This research agenda is one part of the mission of public health, namely to ensure conditions by which people can be healthy. The three essential public health functions can be applied to genomics: policy development, assurance, and assessment.
- Policy development: public health serves as a convener and honest broker, advising providers, the public, and policy makers on the potential net health impact of a particular health technology including genetic testing.
- Assurance involves implementing appropriate programs (such as newborn screening), laws, and regulations, assuring access, and strengthening providers’ genomic competencies and the general public’s health literacy.
- Assessment applies public health sciences to monitor and evaluate effectiveness, quality and outcomes of deployment of genomic technologies in populations.
In 1997, the CDC established the Office of Public Health Genomics dedicated to the effective and responsible translation of genome-based science to improve population health in the United States. At that time, a new era of personalized healthcare seemed around the corner. However, the promise of the Human Genome Project was mixed with unrealistic expectations.
The public health community called for a scientific approach to explore the balance of benefits and harms of the new science. A major achievement for public health genomics has been to make these concerns central to the dialogue among the basic, clinical and public health-related scientific communities. Public health genomics also has begun to prepare the workforce for integrating new tools in practice and for integrating genomics in public health’s essential functions.
So where are we after 17 years of public health genomics? There are 5 main areas of ongoing progress in public health genomics, where emerging information is making a real impact on improving health and preventing disease in populations:
2013 year marked 50 years of saving lives through newborn screening which remains the largest public health genetics program in the world; is run by public health agencies in all 50 states in the US and; identifies more than 30 conditions that can affect a child’s long-term health or survival. Early detection, diagnosis, and intervention in more than 12,000 babies every year helps prevent death or disability. Each year, millions of babies in the U.S. are routinely screened for certain genetic, endocrine, and metabolic disorders using a few drops of blood from the newborn’s heel, or a point of care test at the bedside. The Affordable Care Act requires many health plans to cover these newborn screenings with no cost sharing.
Family Health History
2013 marked the 10th anniversary of Family Health History Day on Thanksgiving. Despite the amazing progress in the past decade, family history remains the simplest and most readily available genomic tool for disease prevention and health care across the lifespan. Family members share genes, behaviors, lifestyles, and environments that together may influence their health and their risk of disease. Most people have a family health history of some diseases (e.g., cancer, coronary heart disease, and diabetes) and health conditions (e.g., high blood pressure and hypercholesterolemia). Family health history can inform evidence-based preventive services, such as screening for elevated cholesterol and osteoporosis.
The updated Surgeon General’s My Family Health Portrait tool: provides consumers with a free and easy way to record their family health information; is published in several languages; and enables the information to be readily shared with family members and health care professionals.
Pathogen Genomics and Public Health
The emergence of powerful sequencing and bioinformatics tools has completely changed the landscape in the public health fight against infectious diseases. There are numerous applications for pathogen genomics including diagnosing infection, investigating outbreaks, describing transmission patterns, monitoring antimicrobial resistance, and developing interventions such as vaccines.
The emerging field of metagenomics promises to uncover entire communities of microorganisms, including species never before cultured in the laboratory, that may be detected and characterized, opening the door to understanding the interactive roles of environmental, animal, and human microbiomes in health and disease. In 2013 CDC launched the Advanced Molecular Detection (AMD) Initiative, which aims to build critical molecular sequencing and bioinformatics capacities at national and state levels to support public health efforts to control infectious diseases.
Genome Sequencing in Healthcare
We are now formally in the era of Next Generation Sequencing (NGS) which includes many applications such as exome sequencing, gene panels, and whole genome sequencing (WGS). This advanced technology is increasingly utilized to identify genetic causes of rare, uncharacterized diseases, particularly childhood conditions. In addition, tumor-based genomic sequencing is beginning to permeate oncology with major advances in molecularly-targeted tumor classification and gene-directed therapy.
In 2013, the Blue Cross Blue Shield Technology Evaluation Center evaluated the clinical use of exome sequencing in the diagnosis of rare diseases and reported a significant uptake of the technology into clinical laboratory practice. Despite the promise of sequencing, however, there are significant challenges to its general implementation that require additional research and development including analytic validation, workforce challenges, and ethical issues related to reporting genomic findings.
Policy and Legislative Activities
In 2013, several branches of the US government were involved in significant policy and legislative activities to enhance implementation of validated genomic applications while curtailing premature use of such technologies. These included: the Supreme Court ruling on gene patents; the FDA authorization of the first, next-generation DNA sequencer; the FDA’s increased regulatory activity over the direct-to-consumer genetic testing industry; the Affordable Care Act provisions for coverage without cost sharing of some genetic counseling and testing for women and testing for newborns and the progress in implementation of genomics objectives in the Healthy People 2020 initiative. These actions signal an increasingly robust policy and evidentiary framework for the appropriate use of genomics to improve health.
The CDC Office of Public Health Genomics is committed to: 1) identify which genomic applications are appropriate for use, which are not, and which need more evidence 2) inform healthcare providers, payers, researchers, and the general public of this emerging body of information, and 3) integrate mature applications into existing healthcare and disease prevention programs. To facilitate integration of evidence-based genomics into healthcare and public health, CDC released an ongoing list of genomic applications based on levels of evidence and has promoted a proactive approach for the implementation of “tier 1” applications through partnerships and programs in public health departments.
A clickable state map of public health activities was released in 2013, and an implementation tool kit was released in 2014 to help public health departments implement selected tier 1 genomic applications that could reduce morbidity and mortality in about 2 million people in the US. An increasingly active public health involvement in genomic implementation will help reduce health disparities, increase appropriate use of technologies, and potentially reduce healthcare costs.
In summary, the successful implementation of genomics in practice requires an active collaboration among multiple sectors including research, practice, consumers, industry and public health. Public health plays a key role in making the promise of genomics a reality to improve population health by identifying evidence-based applications, informing and engaging stakeholders, and through effective integration into disease prevention and health care programs.
Muin J. Khoury, M.D., Ph.D., is director, and Scott Bowen, MPH, is deputy director, in the Office of Public Health Genomics, at the Centers for Disease Control and Prevention. The views in this article are those of the authors and do not necessarily represent the official position of the CDC.