What is the Role of Public Health in Addressing Health Equity in Genomics and Precision Medicine?
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The following are excerpts from our recent paper in Genetics in Medicine.
Although recent articles have included strong calls for a health equity agenda in genomics and precision medicine, these calls usually focus on underrepresentation of minority and ethnic populations in research. However, to ensure that genomic discoveries can lead to improved population health outcomes, an equity agenda needs to go beyond research. Published studies have consistently shown lower implementation rates for selected genetic diseases with tier 1 applications among racial and ethnic minority groups, rural communities, uninsured or underinsured people, and those with lower education and income. Health equity issues apply to thousands of genetic disorders and to precision medicine in general.
The paper makes strong case for a public health agenda to address disparities in implementation of genomics and precision medicine. Specific public health actions can be centered on population specific needs and outcomes assessment, policy and evidence development, and assurance of delivery of effective and ethical interventions (see Table below).
“Public health is what we do together as a society to ensure the conditions in which everyone can be healthy. Many sectors play important roles, but governmental public health is an essential component.” There are 3 broad themes for government public health action at the intersection of genomics and health equity, based on the core functions of public health—assessment, policy development, and assurance. Public health is as an important part of the solution in dealing with equity challenges in genomics, just as with other fields of health care. Current public health practice is not optimally integrating genomics into the essential functions of assessment, policy development, and assurance.
In the paper, we summarize our vision and opportunities for specific public health actions that can be conducted by the Centers for Disease Control and Prevention and its many partners to help reduce disparities in the implementation of genomics and precision medicine. This framework lays the groundwork for the next steps, including identification of specific goals and measurable outcomes in the design and implementation of specific community-based interventions.
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Table. Essential public health services, vision, and selected opportunities to help close the health equity gap in genomics and precision medicine
| Continuum of Essential Public Health Services | Opportunities for Implementation of Emerging Genomic Applications Using a Health Equity Lens |
|---|---|
| Population health assessment | Vision: Toward more precision in measuring disparities in diagnosis, prevention, treatment, and outcomes in emerging genomic applications in different communities |
| Public health surveillance | Integrate genomics and precision medicine into public health data modernization |
| Applied and implementation research | Develop and implement a robust community-specific implementation science agenda for genomics and precision medicine in underserved communities |
| Guidelines and policies | Vision: Toward effective engagement of different communities to drive needs assessment, evidence synthesis, policies, and guidelines |
| Evidence synthesis | Develop a process for continuous evidence synthesis and prioritization for implementation of tier 1 genomic applications in different communities |
| National and community-based guidelines | Develop evidence-driven models for coverage and reimbursement, data sharing and learning health systems for different communities |
| Assurance and capacity building | Vision: Toward achieving learning health systems for implementation of emerging genomic applications in different communities |
| Model community programs | Develop and implement exemplar pilot projects that facilitate building trust and access to evidence-based genomic applications in different communities |
| Tools and resources | Develop and validate patient- and community-specific tools and resources for implementation |
| Workforce development | Integrate genomics into clinical and public health workforce development and focus on diversity and inclusion in recruitment and retention of next-generation professionals |
The main focus of a public health genomics agenda is on persons and communities negatively affected by social determinants of health, including racial and ethnic minority groups, people living in rural communities, uninsured or underinsured people, and those with lower education and income.
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