Public Health Genomics at the Centers for Disease Control and Prevention: Happy 25th Anniversary!

In 1997, in response to the Human Genome Project, the CDC formed the Office of Genetics and Disease Prevention, now called the Office of Genomics and Precision Public Health (OGPPH). This was the beginning of the public health genomics movement in the United States and around the world. Our office continues to serve CDC programs, other federal agencies, state health departments, and other external partners by identifying, evaluating, and implementing evidence-based genomics applications to prevent and control the country’s leading chronic, infectious, environmental, and occupational diseases.

We have previously looked back on our accomplishments and challenges. In 2009, we published a summary of our first decade, and in 2018 we described our 20-year journey. On our website, we have a quick yearly account of our accomplishments since 1997. Our journey has included a wide range of activities such as national conferences, model state public health genomics programs, academic centers for excellence in public health genomics, and the Evaluation of Genomics Applications in Practice and Prevention (EGAPP) initiative.

As the clock runs out on 2022 and we celebrate our 25th anniversary, we reflect on the accelerated integration of human genomics into clinical practice, discuss the role of public health in translating these advances into population health benefits, and outline our current 5-year, CDC-wide initiative in human genomics and public health.

Human Genomics is Now Poised for Increasing Population Health Impact

In 1997, clinical and public health genetics focused on only a handful of applications: newborn screening – the foundation of public health genomics for more than 50 years- along with birth defects, developmental disabilities, and rare diseases. By 2022, multiple human genomic applications have entered healthcare across the lifespan. These include expanded carrier testing, noninvasive prenatal testing, expanded newborn screening, genetic testing of sick infants, and children with multiple birth defects and neurodevelopmental disorders. In addition, genomic applications have been introduced for diagnosis, screening, and prediction of an increasing number of adult conditions, such as cancer and heart disease. Current areas under exploration include the potential for population screening beyond the newborn period and pharmacogenomic testing.

Our office maintains an updated, online database of genomic applications classified by of the level of evidence for health impact in practice. In 2022, we reviewed trends in tier 1 genomic applications, those with highest level of evidence for clinical validity and utility and existence of evidence-based practice guidelines.

Major Challenges Exist in Integrating Human Genomics into Public Health Programs

To date, evidence-based human genomic applications have been unevenly integrated into public health programs. Competing priorities, and lack of capacity and awareness contribute to the current landscape. In addition, there are lingering challenges and misconceptions facing an expanded role of human genomics in public health:  i) human genomics is important only for rare diseases with limited public health impact; ii) does not provide important information in addition to environmental, behavioral, and social determinants of health; iii) is a nonmodifiable risk factor; iv) has a weak evidentiary foundation for use in clinical practice; and v) applies to healthcare only without a need for public health interventions. In a 2021 paper, we discussed ongoing opportunities for addressing these challenges and provided examples of approaches to address them.

Human Genomics and Public Health: A 5-Year Initiative at the Centers for Disease Control and Prevention

In 2021, funding from the CDC Office of Advanced Molecular Detection helped us launch a 5-year, CDC-wide initiative to strengthen CDC’s capacity to integrate human genomics into public health surveillance and applied research.

The key components of the initiative include:

• Building DNA specimen and genomic data repositories within the National Nutrition and Health Examination Survey (NHANES), to establish a national genomic profile representative of the United States population and to make these data accessible for population-based studies. In December 2022, CDC and the National Academies of Science Engineering and Medicine (NASEM) will conduct a workshop to explore ethical and practical considerations for returning results of genomic analysis in population-based surveys, with a focus on NHANES.
• Supporting CDC pilot projects to strengthen public health capacity to integrate human genomics in public health surveillance and applied research. A list of ongoing funded projects can be found here.
• Enhancing public health capacity in human genomics via new training courses and the launch of a public health genomics fellowship program.

Moving Forward

Moving forward, an important focus for public health genomics will be to ensure that genetic information can be used equitably to improve health and prevent disease across the lifespan.  Published studies have consistently shown lower implementation rates for selected tier 1 genomic applications among racial and ethnic minority groups, rural communities, uninsured or underinsured people, and those with lower education and income. We have made a strong case for addressing disparities in implementation of genomics and precision medicine. Specific public health actions can be centered on assessing population-specific needs and outcomes, developing evidence-based policies, and assuring delivery of effective and ethical interventions.

In the last 25 years, our office has helped lay a strong foundation for an important role for public health in realizing the population health benefits of advances in human genomics. We are thankful for the efforts and support of many people across CDC programs, in state health departments, other federal agencies, and partners across the globe. Collective efforts have helped launch and move the field forward. We fully expect that the next 25 years will usher in a more robust integration of human genomics into public health programs across the lifespan in the United States and around the world.

Please join us on February 9, 2023 for a special CDC mini symposium of 25 years of public health genomics around the world.