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Table 1 Illustrative examples of study domains proposed for human genomics research in precision public health

From: Advancing precision public health using human genomics: examples from the field and future research opportunities

Study domain and definition Promising opportunities Specific examples of application in precision public health Possible future directions Cross-cutting considerations in health policy, data integration, and health equity
Biostatistics: Study of theories and techniques for collecting, analyzing, and interpreting quantitative data relevant to public health issues. Allow for development of new methods for interrogating complexity of precision public health data High-throughput genomics to provide more precise modeling and higher resolution of statistical interactions in relation to common or multifactorial complex diseases (e.g., Genomes Project, Genetic Analysis Workshop, ASK2ME) [17]. Development of algorithms for decision support tools and data resources using AI for enhanced resolution and interpretation of multi-omics datasets Data Integration: addressing data storage and security issues, data integrity, data integration with variables across levels; methods for data analysis.
Health Equity: developing novel methods to examine how dimensions of disadvantage interact to create health risks in more precisely defined marginalized subgroups of the population (i.e., according to multiple indicators of social position).
Environmental Health: Study of assessment, control, and prevention of factors in the environment that can adversely affect the health of present and future generations. Elucidate how individual and macro-level factors interact to influence health Parkinson’s Genes and Environment Study collected mobile health technology for both environmental and personal health information to assess link between pesticide exposure and Parkinson’s disease [20, 21]. Better understanding of mechanisms behind complex environmental exposures and interactions with individual-level factors to target high-risk populations Health Policy: harmonizing health policies across international and community boundaries to ensure uptake of environmental initiatives that support precision public health.
Health Equity: conduct subgroup analyses to examine how different dimensions of social position interact to shape vulnerability to environmental risk factors for poor health.
Epidemiology: Application of the scientific method to the study of disease in populations for the purpose of prevention and control. Improve knowledge of multi-level risk factors to enhance risk assessment and enable risk-stratified screening, treatment, and surveillance Risk-stratified screening approaches that incorporate genetic risk to improve cost-effectiveness, reduce over diagnosis and maintain the benefits of screening for those at highest risk of breast cancer.
Partnering with populations historically absent from biomedical research to improve diversity and equity of epidemiological knowledge (Northwest-Alaska Pharmacogenetics Research Network) [22]
Advancement of our understanding of multi-level risk factors for targeting prevention and screening strategies to populations at highest risk Data Integration: supporting data sovereignty.
Health Equity: ensuring data are collected from diverse, representative groups.
Health Policy and Services Research: Research on the cost, access, and quality of the health care system, and on policy issues affecting the organization, financing, and delivery of health care services. Understanding economic and health impact, as well as health equity of precision public health approaches Implementing Genomics in Practice Consortium; understanding barriers to implementation of cascade screening for hereditary cancer conditions, such as Lynch syndrome [23]. Evaluation of clinical utility, cost-effectiveness, and patient-reported outcomes Health Policy: ensuring privacy of potentially highly identifiable information. Considerations of when and how to intervene on genetic information.
Data Integration: incorporating genetic test results into electronic health records.
Health Equity: integrate consideration of the social determinants of health within health care (e.g., social prescribing).
Social and Behavioral Science: Interdisciplinary study focusing on how health education can affect behavior and lifestyle decisions that have an impact on public health. Translate genomics applications for population health and community-based human genomic research Assess individuals’ preferences to learn genomic information, assess family-based interventions, implementation of screening approaches, and assess how social environmental inform understanding of gene-environment associations.
Efforts in ethical, legal, and societal implications (ELSI) of human genomics research [24], NCGENES2 [25], and CARTaGENE project [26, 27].
Public understanding of precision public health, genetic and genomic risk communication, adequate reach of precision public health interventions, precision public health intervention development and testing of interventions to promote behavior change, and new behavioral targets that may be informed by precision-based approaches Health Policy: Supporting implementation of cascade screening; ethical implementation of new human genomics discoveries.
Health Equity: conduct subgroup analyses to examine how different dimensions of social position interact to shape vulnerability to behavioral risk factors for poor health.