17 June 2021 | Thursday | Analysis | By Katherine Kolor, Ridgely Fisk Green, and Muin J. Khoury, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, Georgia
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:
Policy development: The stakeholders encouraged public health leadership in addressing policy barriers to effective implementation and monitoring of genomic applications through:
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:
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.
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.
“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.”
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