What should be the public health priorities in genomics and precision medicine in the next decade?

The CDC Office of Genomics and Precision Public Health is undergoing strategic planning to identify major opportunities for impact of public health action in human genomics and precision medicine in the next decade. As part of this process, we interviewed nine persons external to CDC from diverse backgrounds and organizations that represent the leading edge of human genomics in health practice, including government, state public health, academia, patient organization, and the private sector. Semi-structured interviews focused on health equity, public health data modernization, emergency response, and evidence-based implementation of genomic medicine. Table 1 lists questions used to guide the interviews. See Table 2 for a few selected quotes from these interviews.

Here, we report our interim findings and seek wider feedback from the public health, clinical, academic communities, as well as the private sector and patient organizations, in order to refine these priorities into specific public health actions in genomics and precision medicine.

We used the traditional framework of core functions of public health—assessment, policy development and assurance—to structure the interviews and to summarize the feedback we received.

Assessment: The interviewees identified critical roles for public health in leadership and convening to establish the evidentiary foundation for implementing genomic and precision health applications through:

• Evidence assessment: Systematically evaluate evidence on implementing genomic and precision health applications for disease prevention in the public health setting, building on methods/strategies used in CDC’s Evaluation of Genomic Applications in Practice and Prevention (EGAPP) and ACCE (analytic validity, clinical validity, clinical utility and ethical, legal and social issues) frameworks and the Community Guide. This process needs to be credible, rapid, and responsive to emerging evidence.
• Evidence needs: Identify critical gaps in evidence to drive additional applied research and surveillance to inform evidence-based guidelines for public health practice.
• Evidence development: Assess use of genomic applications and resulting interventions, outcomes, and disparities using new and existing national, state, and local data sources.

Policy development: The stakeholders encouraged public health leadership in addressing policy barriers to effective implementation and monitoring of genomic applications through:

• Public health practice guidelines: Developing evidence-based guidelines on how to implement genomic and precision health applications in national, state, and local public health settings.
• Policy changes:
  • Convene multidisciplinary partners to address data sharing and privacy policy barriers related to 1) developing interoperable data systems to provide real world, unbiased evidence to inform genomics and precision health practice guidelines; and 2) facilitating genetic screening in families (cascade testing).
  • Identify new models for coverage and reimbursement of genetic services that can address health inequities in public health and clinical settings.
  • Convene national, state, and local public health leaders to develop a national strategic agenda for genomics and precision public health for disease prevention.

Assurance: The stakeholders recognized the essential role of public health in integrating genomic tools on a population level and monitoring health outcomes related to genomics. A public health infrastructure could help support effective implementation of evidence-based genomic applications for disease prevention to improve population health outcomes and engage communities equitably through:

• Implementation resources: Develop and evaluate tools and resources (e.g. fact sheets, family history collection tools) to facilitate the implementation of evidence-based genomic recommendations targeted to the public health setting.
• Exemplar public health programs: At the state and local level, pilot implementation of evidence-based genomic applications in community health settings as part of broader programs (e.g. cholesterol education campaigns, cancer screening programs). This activity could build on the experience of current CDC-funded programs in cancer genomics. The goal would be to identify people from the general population who could benefit from interventions, ensure that they received the resulting required health care services, and facilitate cascade testing in family members. These programs could serve as a framework for implementing additional genomic applications as evidence accumulates.
• Workforce development: Nurture state-level leaders in genomics to champion how genomics can help programs meet goals and promote chronic disease-based, rather than condition-specific, approach to integrating genomics into existing programs. Build public health workforce knowledge and skills in genomics.
• Community engagement: Engage with communities to build trust and foster partnerships to increase equity in implementation of evidence-based genomic recommendations.
• Public and provider education: Increase provider and public awareness of genomic applications that can improve early detection and prevention of disease.

Our next step is to compile stakeholder and community feedback into a specific set of priorities and actions for the next decade with a focus on genomics and health equity. To fulfill the increasing promise of genomics and precision medicine to improve health for all, we need a strong and coordinated public health response.

As always, we appreciate comments and input from our readers. Please submit your comments below.

Table 1: List of Questions Used to Engage External Stakeholders

The following questions were discussed with stakeholders. When addressing the specific questions, interviewees were asked to consider how public health efforts at the federal, state, and local levels could intersect with their work specifically, as well as the field of human genomics in health practice generally.

• What are the most important genomic and precision health opportunities and challenges that should be addressed by the public health system in 2021-2030?
• What are the specific activities that should be conducted to address these opportunities and challenges?
• What population level outcomes might be achieved as the result of these activities?
• What are the measures of impact used to track progress in achieving these outcomes?
• What are the barriers for achieving these outcomes and how might they best be overcome?
• What are the ideal roles of public and private sector stakeholders, including federal, state, and local level government, industry, professional and patient organizations, etc.?
• Of all of the potential roles that we discussed today, which is the most important to address in the next 5-10 years?
• Are there specific stakeholders that you might identify as uniquely positioned to comment on these questions?
• Is there anything else that you would like to add about any of the topics that we have discussed or other areas that we didn’t discuss but you think are important?

Table 2: Selected Quotes from Stakeholder Interviews

“We should look to a day when nobody ever gets breast cancer because they carry a BRCA variant, and it shouldn’t wait until early onset of cancer in that person or in a family member to make them realize that this is something that needs to be addressed.”

“The EGAPP Working Group is something that CDC can organize and do that can be very useful to state and local public health, and particularly the leadership looking for genomic applications to focus on, providing a map for directions that they could go. This is the level of sophistication that is needed.”

“Policy development is the most important to pursue and is clearly tied to CDC’s core mission of surveillance and assurance, which will save no lives if dissociated from policy development.”

“Familial conditions extend beyond the barriers of a health system, and oftentimes beyond the borders of a state…A catalytic role that CDC could play is policy work on family screening in the U.S., addressing burdensome policy barriers, convening players and determining the most responsible way to address current policy that does not allow us to help families who have inherited conditions.”

“I don’t see the future of pharmacogenomics as getting third party payers to reimburse better or teaching physicians that before prescribing certain drugs they should run tests… it makes much more sense that there would be an infrastructure where people get tested early in life and pharmacogenetic information is stored so that they can be retrieved when and where needed.”

“Build a bridge of knowledge and collaboration with public health leaders at the national, state, and local level about the importance and relevance of genomics and precision health in public health today relative to other determinants of health.”