Beyond Base Pairs to Bedside: A Community Consultation on Closing the Gap between Genomic Discoveries and the Public’s Health

In June 2011, the CDC Office of Public Health Genomics launched a community wide consultation process to develop priorities for the field of public health genomics in the next 5 years. This process was initiated as part of strategic visioning for integrating the emerging tools of genomics into practice and assuring the success of these new tools in improving population health. The process was conducted at a time of a widening gap between the rapid scientific advances in genomics and their impact on improving population health.   The University of Michigan Center for Public Health and Community Genomics and Genetic Alliance spearheaded an effort to seek, collate and synthesize advice and recommendations from numerous stakeholders and constituents. The effort culminated in a workshop conducted on September 14, 2011 in Bethesda, Maryland. The results of the consultation, discussions and deliberations are summarized in a report published by the University of Michigan. Highlights of the recommendations are summarized here but readers should consult the full report.  Some of the recommendations include:

To improve public health genomics education:

• Integrate genomics into health professional programs of study (e.g., schools of public health, medicine, nursing, dentistry, pharmacy, etc.).
• Train the existing health professional workforce
• Build partnerships and collaborations in academia, public health practice and communities to promote genetic and genomic literacy.

To improve utility and efficiency of research:

• Develop and implement research that leads to a strong evidence base for public health action
• Direct research toward translation, shifting focus to health outcomes
• Engage community in research agendas.

To assure that genetics services and technologies are safe, effective, and appropriately integrated into the healthcare setting:

• Evaluate genetic tests for clinical validity and utility
• Create a credible, publicly available database of genomics tools and findings on their validity and utility
• Evaluate family history to demonstrate value of genetic tests, technologies, services, and tools.

To support safe, responsible and practical uses of public health genomics, develop policies to:

• Ensure a competent public health workforce and a health-literate nation
• Further public health genomics research agendas
• Ensure proper regulation of genomic technologies
• Ensure appropriate use of genomic technologies.

To ensure health applications would effectively improve public health outcomes over the next five years: 

• Utilize family health history to identify risk and modify behavior
• Expand focus of genomics and related technologies to common chronic disease.

We are most grateful to the numerous individuals, organizations and communities that worked hard on this consultation effort. The report adds passion and substantive contributions to recently developed reports, notably by the Secretary’s Advisory Committee on Genetics, Health and Society on training and education of the workforce, the Association for State and Territorial Health Officials on the essential public health functions and services in genomics, and our recent paper: “beyond base pairs to bedside”.

As the field of genomics and related technologies continues to mature in the next decade, we see an important contribution of public health practice in all these domains. Among important actions for public health will be to:

• Serve as the honest broker for emerging genomic applications to consumers, providers, and policymakers to inform what is ready and what is not
• Implement evidence-based genomic applications and discourage use of unvalidated applications through policy, educational and clinical interventions
• Evaluate impact of public health interventions to assess benefits and harms for subsets of the population based on genetic and genomic information.

Collectively, these actions will have a small but increasing impact for improving population health. Two cases in point are implementation of recent evidence-based recommendations around BRCA testing for breast and ovarian cancer and Lynch syndrome testing in colorectal cancer. They will also have an important impact in saving unnecessary healthcare costs and preventing harms while illuminating what is ready for implementation.  Finally, these actions will evaluate existing public health efforts as to their benefits and harms and inform the next generation of public health interventions.

We will continue to work with our many partners in the US and globally to chart the course of public health genomics to ensure the success of genomics technologies in improving the health of all people.