By Matt Jones
NEW YORK (GenomeWeb News) – If the new technologies of the genomics era are going to be useful in addressing public health outcomes, steps should be taken to improve the evidence supporting their value, to educate the healthcare workforce and the public about their use, and to ensure their safety and effectiveness and applicability to chronic diseases, according to a report about the state of public health genomics.
Spurred by the US Centers for Disease Control and Prevention's Office of Public Health Genomics and health advocacy group Genetic Alliance and published by the University of Michigan Center for Public Health and Community Genomics, the report pulls together the voices, observations, and suggestions of a wide-ranging group of over 100 public health stakeholders into a set of findings and recommendations.
Many of the ideas were generated through responses to a request for information published by CDC/OPHG in July that posed a set of questions about what the priorities should be over the next five years in public health genomics. Other input came from a meeting held in September by Genetic Alliance with a group of public health genomics stakeholders.
"The potential of genomics in public health has yet to be realized by healthcare agencies and leaders in the United States," Ron Zimmern, chairman of the Foundation for Genomics and Population Health, commented in the report. "Funding, education, and partnerships with industry are essential to bringing genomics to the forefront of public health to tackle chronic conditions."
Muin Khoury, director of CDC/OPHG, told GenomeWeb Daily News that the ideas and problems laid out in the report represent "a collective agenda" for the public health genomics field going forward.
"The most important area is to figure out what are the genomic applications that are ready for practice, and to do the kind of evidentiary analysis that needs to happen, and to show the gaps in our knowledge so that further research can plugs those gaps," he said.
The larger goal is to "take the increasing number of applications to fruition and use them in the real world and save some lives, and to me that is the highest priority."
The population health community can serve as an ideal "honest broker" in this effort, Khoury said, "because we don't have an agenda. We're not trying to use certain products or discover things. Our agenda is to improve population health."
Several recommendations in the report addressed the need to improve the utility, efficiency, and cost-effectiveness of genomics research, including the need for funding more studies. Some commenters suggested that there is a need to develop and implement research that leads to a strong evidence base for supporting action in public health, that the science should begin shifting more towards translation and health outcomes, and more community engagement is needed in setting research agendas.
"Recent RFAs from NIH related to genomic translation tend to lack a public health perspective — a worrisome sign about the future of research trajectories," Wylie Burke, professor and chair of bioethics and humanities at the University of Washington School of Medicine, said in the report.
"Currently, the most fundamental part of genomics, translation, is underfunded," she added. "There continues to be very robust funding in the discovery phase of the research cycle. Very little research money goes towards delivery and outcomes," Burke stated.
"Funding is one barrier to furthering the integration of genomics into public health priorities, as it is difficult for academics to find public health genomics research grants," added Kim Kaphingst, an assistant professor in the Division of Public Health Sciences, Department of Surgery, Washington University School of Medicine. "There is a tension between the public health folks and those in clinical medicine as to where the research dollars belong."
Khoury said that he already sees a growing interest among research entities that have in the past primarily focused on pursuing basic research in beginning to translate genomics innovation into effective applications.
"What has happened over the last few years is that some of the funding agencies like the National Institutes of Health ... are beginning to think about a robust research agenda that evaluates the implementation of these applications and practices."
Khoury pointed to the National Human Genome Research Institute's recent funding of several grants that focus on how clinical sequencing can be used effectively and ethically as one example of this shift.
To support the use of genomics in identifying and solving community health problems, commenters in the report pointed to a need for the creation and use of databases for monitoring public health and for more studies of gene-environment interactions. The increased use of family histories to identify at-risk individuals and the integration of electronic health records to improve the coordination of care also could help the public health community leverage genetic information in the clinic, they advised.
The report also identified a need to evaluate genomic tests to ensure their efficacy, safety, and ethical implications. Stakeholders see a need for the development of policies, laws, and regulations that protect and ensure safety, including guidelines for genomic applications and increased insurance coverage for high-risk individuals.
These stakeholders also see the need for better education about genomics technologies and genetics in general among the professional healthcare workforce and among the public, the report suggested.
Looking forward over the coming five years, as suggested by the CDC's initial RFI, Khoury said he expects to see genomic applications become more mature and their use to spread slowly and incrementally into clinical practice. However, he said, right now, the healthcare community is not prepared to handle the use of genomics tools and information.
"I think there is enough movement to try to educate the workforce and get them tools that are useful in their decision-making, at the point of their decision-making.
"It's more of a steady growth, rather than a quick revolution in the practice of public medicine," he added.