Public Health Genomics At a Glance: Realizing Opportunities for Genomics to Improve Health
What is Public Health Genomics?
Public health genomics is a relatively new field that focuses on the effective and responsible translation of genomic research into population health benefits. Since 1997, CDC’s Office of Public Health Genomics (OPHG) 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.
A Public Health Genomics Action Plan for Health Impact
OPHG has been actively working with partners to use public health genomics for health impact. For example, under a 3-year cooperative agreement with OPHG, the Michigan Department of Community Health (MDCH) identified more than 15,000 people who might benefit from genetic evaluation for hereditary breast, ovarian, colorectal and other cancers, using existing cancer registry data (2006-2007). Further, Michigan has developed a bidirectional reporting system to return this potentially lifesaving information along with educational materials about evidence-based genomics recommendations to the reporting institutions. MDCH has also partnered with payers using a model policy implementation program to extend insurance coverage to over 6 million Michigan residents for genetic services consistent with U.S. Preventive Services Task Force BRCA recommendations. These successes highlight what might be possible on a national scale.
Given the new potential for health impact, OPHG conducted strategic planning in collaboration with a wide range of stakeholders in 2011 and 2012 to develop broad priorities for public health genomics in the next 5 years [PDF 5.35 MB], as well as a specific action plan for genomic implementation in public health practice [PDF 951 KB].
- Integrate evidence-based genomic applications into public health programs.
- Evaluate genomic tests to identify opportunities to improve health and transform healthcare.
- Develop and provide communications publications, training, policy and technical assistance about public health genomics to various audiences.
OPHG identified several genomic applications with evidence-based recommendations to support their use in healthcare and public health. These applications can save lives now if implemented effectively, and more will emerge in the next decade. Nearly 2 million Americans are at increased risk for early-onset cancer or heart disease because they have one of three genetic conditions: BRCA-associated risk for hereditary breast and ovarian cancer; Lynch syndrome; and familial hypercholesterolemia. Most people with these conditions are not aware they have them, yet early detection and intervention could save their lives. Cost-effective, evidence-based interventions exist to prevent premature disease and death from heart disease and cancer in people with these conditions.
State, district, and territorial public health departments can reach people with these conditions by integrating evidence-based detection and referral into existing public health programs. Model state genomics programs are:
- Identifying people eligible for recommended genomic services using cancer registries, and educating health providers.
- Facilitating payer coverage consistent with evidence-based recommendations by implementing model policies.
- Monitoring implementation of genomics recommendations by developing and evaluating new data sources.
Building on early successes of these model programs will require public health-healthcare partnerships to enhance cancer registry reporting for selected hereditary cancers; expand coverage for recommended clinical services that can improve health; develop surveillance indicators for tracking progress of widespread implementation; and conduct public health education targeted to healthcare providers, consumers and policy makers.
Advances in genomics and related technologies promise a radical transformation of the health care system by delivering more precise and personalized health care and disease prevention. However, there is currently no independent group in the U.S. or around the world that specializes in examining the evidence on clinical utility of new genomic applications. OPHG supports the Evaluation of Genomic Applications in Practice and Prevention (EGAPP) working group; an independent, nonfederal, multidisciplinary panel that systematically reviews evidence on emerging genomic applications in clinical practice and disease prevention and produces recommendations for their use.
These recommendations have led to appropriate use of new technologies in saving lives and reducing unnecessary healthcare costs. More than 90 institutions have used the 2009 EGAPP Lynch syndrome recommendation to justify Lynch syndrome screening protocols. The EGAPP working group has produced recommendations against or discouraging the routine use of three genetic tests (factor V Leiden in recurrence of venous thrombosis, cardiogenomic profiles in risk assessment for heart disease, and CYP450 for selection and dosage of selective serotonin reuptake inhibitors in major depression), thereby discouraging unnecessary health care costs and potential harms to patients.
In 2012, OPHG developed a three-tiered framework for classifying genomic testing and family health history applications based on the availability of scientific evidence and evidence-based recommendations supporting their use. Tier 1applications are recommended for clinical use by evidence-based panels, based on systematic review of evidence of validity and utility. Tier 2 applications may be useful for informed decision making in clinical practice, based on demonstrated validity, and promising utility. Tier 3 applications are not ready for clinical use, due to validity or utility not established, or systematic assessment finding harms outweigh benefits; however, they might be candidates for population or clinical research.
3- Develop and provide communications publications, training, policy and technical assistance about public health genomics to various audiences
The public health workforce is not prepared to meet the increased demands that result from the integration of genomics and related technologies into healthcare and disease prevention. In the past decade, CDC’s OPHG took the national and international lead in developing competencies for genomics for the public health workforce, funded CDC fellowships in genomics and disease prevention, collaborated with other agencies and internationally to develop online tools, courses and also to host 4 national conferences on genomics and public health. The last conference was conducted in December 2010 and had more than 700 attendees from around the country and internationally. The proceedings from this conference were published in a 2012 special issue of the journal Public Health Genomics.
OPHG’s Genomics and Health Impact Update is published weekly, providing timely information about genomic tests, family history, and relevant policy and legislation, science, and practice to over 45,000 subscribers.
OPHG’s Genomics and Health Impact blog addresses important topics such as family health history, direct-to-consumer personal genomic tests, preparedness, smoking, pathogen and human genomics.
OPHG has reached thousands of health care practitioners with evidence-based genomics messages through the CDC Expert Commentary Series on Medscape.
OPHG developed, maintains and updates the Genomic Applications in Practice and Prevention Knowledge Base, an on-line database that facilitates the identification of emerging genomic tests with the potential to impact public health, which currently includes over 450 genomic tests.
OPHG is the lead editor for the online collection PLoS Currents: Evidence on Genomic Tests, a novel online publication that provides summaries of available data on the validity and utility of tests while highlighting important gaps in knowledge. Currently, evidence summaries have been published for 23 different genomic tests.