Public Health Genomics: Time to Sharpen the Focus

As a new team of editors, we introduce this collection of perspectives aimed at “Re-envisioning what is public health genomics?” to acknowledge Public Health Genomics’ 25th year in publication. To this end, we engaged our colleagues in conversations to consider future translation research and practice that could accelerate genomics-informed applications bringing public health benefit. As we bring these perspectives to help us sharpen Public Health Genomics’ focus, we also reflect on the journal’s evolution and celebrate our accomplishments.

Public Health Genomics began in 1998 as the journal Community Genetics under the editorial leadership of Leo ten Kate (Ed. 1998–2008), a medical geneticist and leader in newborn screening for cystic fibrosis [1]. The journal’s founding preceded by 5 years the completion of the Human Genome Project in 2003. At that time, public health applications of genetics were most notably national and state-specific newborn screening registries for early detection of treatable, rare disorders as well as birth defects and opportunities for their prevention [2]. The completion of the human genome spurred the rapid advancement of technology, whole genome interrogation, and testing of gene x disease associations for common, complex diseases.

In 2009, Drs. Knoppers (Ed. 2009–2011) and Brand (Ed. 2009–2017) renamed the journal Public Health Genomics, describing their rationale in “From Community Genetics to Public Health Genomics – What’s in a Name?” [3] They championed the name change to reflect what they considered to be “progress in science” and to acknowledge the increasing interdisciplinarity of the field. Knoppers and Brand purposively used the term “genomics” in the title – coined to represent the study of whole genome interactions of genes with each other and with the environment. This conceptual distinction they envisioned to better highlight the relevance of genetic discovery to public health. Accordingly, their vision was that Public Health Genomics’ focus should be on “the responsible and effective translation of genome-based health information and technologies into health interventions and public policies for the benefit of population health” [3]. In 2023, we similarly aspire for Public Health Genomics to be progressive in highlighting scientific advances and their translation for public health benefit.

Public Health Genomics has published almost 600 papers (and over 900 if you consider publications before its name change from Community Genetics). These manuscripts have been authored by researchers, policymakers, clinicians, and public health practitioners from around the world including Asia, Australia, North America, Europe, the Middle East, and Africa. Over these years, an impressively wide range of topics in public health genomics have been covered relating to: cancer, clinical genetic counseling, direct to consumer testing, ethical, legal and social issues, family communication, genetic literacy, genetic service integration in health systems, infectious disease transmission, international consortiums, molecular profiling, population screening, psychiatry, public policy, racial-ethnic disparities in service access and uptake, rare disease, risk communication, whole genome sequencing, and the list goes on. In reviewing the top 20 cited articles from 2009 to 2021, one can see the diversity of topics covered and their impact as indicated by the number of times they have been cited (Table 1).

Yet, amidst these decades of rapidly accelerating genetic discovery, related technology development, and knowledge synthesis, Public Health Genomics’ impact factor has remained relatively static at 1.7 and substantially behind that of other journals such as Genetics in Medicine (also started in 1998 and with an impact factor of 8.8). Moreover, Public Health Genomics’ submission rate has been sluggish with a significant proportion of submissions desk-rejected as “out of scope” (most often basic science results with no clear implications for population health).

With the goal to reinvigorate Public Health Genomics, in 2022 we convened 90-min virtual forums. The goal was to engage colleagues in informal discussions of their impressions of the journal. We conducted 4 forums with a total of 15 participants from the USA, Canada, Australia, and the UK. The participants were researchers, clinicians, and public health practitioners from around the world. We invited individuals whose work we judged as highly relevant for the field of public health genomics – even though not all had previously been published in Public Health Genomics. As this was not a research activity, no Institutional Review Boards were engaged. All participants agreed to have the discussions recorded. The participants’ expertise areas aligned with that found in a published systematic review of genomic translation research from 2012 to 2018 [24]. The review identified common research themes in translation of genomics for public health benefit and included: public understanding of genetics and genomics, risk communication, and development and testing of interventions to expand reach, and effectiveness of health promotion interventions.

In these forums, we posed several questions (e.g., when you have an article in the area of genomic translation relating to public health, what outlets do you consider?) to elicit participants’ general impressions of Public Health Genomics, and whether they consider Public Health Genomics as a suitable outlet for their work. Associate editors agreed on the key themes that emerged from the transcripts of participants’ discussions.

A recurring theme was the participants’ confusion concerning whether or not their work fit under the umbrella of Public Health Genomics. Amidst this confusion, many had decided their work did not fit. This confusion most often concerned whether genetic research conducted in health care settings – primary or specialty care – could be considered public health. Most questioned whether genomic translation had to involve a population and, in turn, what constitutes population research. Forum participants had competing mental models of population, public health, and health services-related research and practice. Most believed that unless their research was conducted outside clinical settings in community contexts, it was not within the scope of Public Health Genomics. Forum participants explained that this confusion was why they did not regard Public Health Genomics as a suitable outlet for their work.

We were struck by the disconnect between our assessment of the relevance of the participants’ work and their own sense that it was not well positioned for publication in Public Health Genomics. The irony and conundrum are that public health genomics as a field, like public health itself, is so broad that virtually any research or practice for genomics translation would be in scope [25]. However, the participants confusion reflects the shifting semantics in which the term “population” is being used in both the contexts of medicine and public health without any clarification being made between the two.

As we move forward, thought leaders in the field are contemplating the use of this ambiguous terminology and making the case that the population focus is inclusive of health care settings. For example, Diez-Roux argues that the population approach includes health care services, but places them in context. In her view, population health, in any setting, comprises the dynamic and interacting relations between: individuals, individuals and their contexts, and individuals and the services that they have access to and use [26]. In this rendering, any context can have a population focus if the effort considers factors at multiple levels of the organization, and applies a lens of health equity [26].

Another key distinguishing factor for population science is that it has translation potential, in particular that findings could be applied for population benefit [26]. The National Center for Advancing Translational Sciences (NCATS) suggests that population science is “the process of turning observations in the laboratory, clinic, and community into interventions that improve the health of individuals and the public.” [27, 28] Thus, it is our imperative that the journal be clear that any clinical research with implications for translation to populations would be within the scope of Public Health Genomics.

The forum participants’ views that Public Health Genomics’ scope was blurry led to a discussion of whether the scope should be narrowed. These discussions surfaced considerable ambivalence about whether breadth was a good thing or would limit Public Health Genomics’ impact. However, across the discussions, participants were unable to come up with any lens to apply to conceptually narrow Public Health Genomics’ scope. Thus, the group concluded that retaining Public Health Genomics’ broad scope and emphasizing genomics translational potential for population health should be retained to grow the field of public health genomics writ large.

Indeed, honoring a wide breadth of scope has paid off for the field of implementation science. In 2015, there were 73 unique definitions of implementation science with no consensus across 27 international organizations [29]. The journal Implementation Science launched in 2006 describes their broad scope to include “the scientific study of methods to promote the systematic uptake of research findings and other evidence-based practices into routine practice, and hence to improve the quality and effectiveness of health services and care.” Implementation Science as a journal has an impact factor of 7.2 and publishes about 120 articles per year [30].

Forum participants noted challenges using Public Health Genomics’ instructions to authors as a guide for considering their work’s relevance for the journal. The interdisciplinary group shared their lack of facility with the different jargons that have been used to characterize public health genomics as a field. For example, when we proposed aligning the description of Public Health Genomics’ scope with the three core functions of public health (i.e., assessment, policy development, and assurance), most of the forum participants were unfamiliar with these terms. Few forum participants had formal training in public health. Participants were trained in fields such as psychology, nutrition, nursing, health services, and genetic counseling, with each discipline relying on different frameworks and terminology. As we embrace genomic translation to population health in clinical and public health contexts, we are in brackish waters with meshing jargon and multilingualism that Public Health Genomics must acknowledge.

Another source of prospective authors’ confusion were the terms “personalized” or “precision” being used to specify genomics or public health. As has been widely acknowledged, each of these monikers suggest that genomics will enable individualized prevention and treatment; this interpretation appears to contradict the notion of population-level benefit [31]. In 2011, the National Research Council, an arm of the US National Academies, clarified that neither term was intended to suggest that health interventions would be tailored to the individual [32]. Instead, the notion was that information from genomics, social factors, and behaviors would facilitate our identifying subpopulations that were most susceptible to disease, and most responsive to treatment – in essence a tool for population risk stratification [32].

We begin this next step in our evolution by deliberatively aligning our scope in accordance with a planning model put forward by the Association of State and Territorial Health Officials (ASTHO). ASTHO is an organization founded over 80 years ago to provide leadership nation-wide in supporting, equipping, and advocating for improvements in the collection and use of public health data, expanded access to care and treatment, and created new preparedness frameworks to respond to crises. ASTHO’s 10 essential public health services have been adapted for the field of public health genomics [25, 33].

We have honed ASTHO’s 10 services into six areas of focus and describe Public Health Genomics’ author instructions that are accessible to an interdisciplinary audience (Fig. 1). The underlying theme of Public Health Genomics’ scope is to translate genomic discovery to protect and improve the health of people and their communities. To this end, Public Health Genomics’ sharpened scope comprises: (1) surveillance and monitoring of genetic risk factors; (2) behavioral research that tests genomic applications to influence health behaviors and health outcomes; (3) communication to promote awareness and the understanding needed to access and use genomic-informed health applications; (4) community engagement efforts wherein community is construed broadly as efforts to involve diverse stakeholders in the development and evaluation of genomics programs; (5) the ethical, legal, and social implications of emerging innovations in genomics; and (6) implementation process where innovative methods are used to test or disseminate effective genomic programs within real-world settings. Crosscutting to this effort as suggested for the field at large is our aim to view these efforts through the lens of protecting diversity, equity, inclusion in population translation of genomic applications [34].

New “environmental jolts” of disruptive discovery and technology development will continue to emerge along with related speculations about their future translation potential [33]. Public Health Genomics can be a forum for airing, challenging, and clarifying these jolts to keep the field fresh and growing [33]. Indeed, Public Health Genomics has the opportunity to be a forum for what Senier et al. [33] call sensemaking, that is, a forum for publications aimed to unpack new ideas and identify which are actionable and in what contexts.

With community input and a sharper scope, we aim to brand Public Health Genomics as the “go-to” journal for the breadth of public health research and practice related to genomics translation. With this invited set of perspectives on future directions for the field, we have proactively engaged early-career researchers as associate editors, editorial board members, and contributors. Their excitement and energy are the future for the field.

The authors have no conflicts of interest to report.

Supported in part with funding from the National Cancer Institutes (U01CA240581).

C.M. McBride outlined and drafted the perspective. S. Roberts, S. Knerr, and Y. Guan reviewed and edited the draft, table, and figure.