A scoping review of social and behavioral science research to translate genomic discoveries into population health impact

Abstract

Since the completion of the Human Genome Project, progress toward translating genomic research discoveries to address population health issues has been limited. Several meetings of social and behavioral scientists have outlined priority research areas where advancement of translational research could increase population health benefits of genomic discoveries. In this review, we track the pace of progress, study size and design, and focus of genomics translational research from 2012 to 2018 and its concordance with five social and behavioral science recommended priorities. We conducted a review of the literature following the Preferred Reporting Items for Systematic Reviews and Meta-Analysis Guidelines for Scoping Reviews. Steps involved completing a search in five databases and a hand search of bibliographies of relevant literature. Our search (from 2012 to 2018) yielded 4,538 unique studies; 117 were included in the final analyses. Two coders extracted data including items from the PICOTS framework. Analysis included descriptive statistics to help identify trends in pace, study size and design, and translational priority area. Among the 117 studies included in our final sample, nearly half focused on genomics applications that have evidence to support translation or implementation into practice (Centers for Disease Control and Prevention Tier 1 applications). Common study designs were cross-sectional (40.2%) and qualitative (24.8%), with average sample sizes of 716 across all studies. Most often, studies addressed public understanding of genetics and genomics (33.3%), risk communication (29.1%), and intervention development and testing of interventions to promote behavior change (19.7%). The number of studies that address social and behavioral science priority areas is extremely limited and the pace of this research continues to lag behind basic science advances. Much of the research identified in this review is descriptive and related to public understanding, risk communication, and intervention development and testing of interventions to promote behavior change. The field has been slow to develop and evaluate public health-friendly interventions and test implementation approaches that could enable health benefits and equitable access to genomic discoveries. As the completion of the human genome approaches its 20th anniversary, full engagement of transdisciplinary efforts to address translation challenges will be required to close this gap.

Keywords: Genomics; Social and behavioral sciences; Translation.

Fig 1

Preferred Reporting Items for Systematic Reviews and Meta-Analysis for Scoping Reviews flow diagram depicting the flow of information through phases of review process. Note: Articles that described the same study were removed at the full-text screening stage so that only one article per study was included in our final sample.

Fig 2

Annual trends in number of studies as they relate to key genomics initiatives. Key initiatives are included to highlight opportunities that may spark interest in genomics research among social and behavioral scientist. Note: 2018 includes studies through October 2018 search.

Fig 3

Annual trends in number of studies based on evidence tiers. Note: 2018 includes studies through October 2018 search. “General” refers to articles that are unrelated to a specific evidence-based genomics tier-specific genetic condition or disease.

Fig 4

Annual trends in number of studies based on study design. Note: 2018 includes studies through October 2018 search.