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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.

SUBMITTER: Allen CG

PROVIDER: S-EPMC8240657 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:BACKGROUND:Antimicrobial resistance (AMR) is an escalating global health issue with complex and dynamic interdependencies, high uncertainty and decision stakes, multiple drivers and stakeholders with diverse values and interests, and various aspects and outcomes. Addressing and combating this critical global challenge requires the formation and establishment of an interdisciplinary research approach that goes beyond the biosciences principally concerned with antimicrobial resistance to include other relevant natural and social sciences. The objective of this study will be to review and map existing social science knowledge and literature relating to antimicrobial resistance. METHODS:The review team will undertake the scoping review using the Arksey and O'Malley methodological framework and also the Joanna Briggs Institute methods manual. Publications in English (from 1998 onwards) will be searched using several databases including PubMed/MEDLINE, Web of Science, Scopus, Anthropological Plus, Sociological Abstracts, International Bibliography of the Social Sciences (IBSS), PsycINFO and EconLit. Grey literature will also be searched (e.g. Google Scholar). Two reviewers will independently screen all citations, full-text articles, and abstract data. Publication types will include original articles, editorials, commentaries, protocols, and books in the social science research literature on AMR. All study designs (quantitative, qualitative, and mixed-methods) will be included. A PRISMA Flow Diagram of search and study selection will be used to report final figures on included and excluded studies. To provide a descriptive summary of the literature, data will be collated, stored, and charted using Microsoft Excel software. The analysis will also involve identifying themes and gaps in the existing literature and summarizing, describing and displaying all pertinent information using thematic construction approaches including qualitative content analysis methods. DISCUSSION:This protocol describes a systematic method to identify, map, and synthesize social science research evidence on antimicrobial resistance. By mapping evidence and identifying potential knowledge gaps where further research is warranted, the resulting scoping review will provide useful insights for the design, implementation, and reorientation of future research agendas on AMR at multiple levels. Systematic review registration: This protocol has been registered with the Open Science Framework (OSF): https://osf.io/hyaem.

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Project description:Introduction: DNA-based population screening has been proposed as a public health solution to identify individuals at risk for serious health conditions who otherwise may not present for medical care. The clinical utility and public health impact of DNA-based population screening is a subject of active investigation. Geisinger, an integrated healthcare delivery system, was one of the first healthcare systems to implement DNA screening programs (MyCode Community Health Initiative (MyCode) and clinical DNA screening pilot) that leverage exome data to identify individuals at risk for developing conditions with potential clinical actionability. Here, we demonstrate the use of an implementation science framework, RE-AIM (Reach, Effectiveness, Adoption, Implementation and Maintenance), to conduct a post-hoc evaluation and report outcomes from these two programs to inform the potential impact of DNA-based population screening. Methods: Reach and Effectiveness outcomes were determined from the MyCode research program, while Adoption and Implementation outcomes were measured using the clinical DNA screening pilot. Reach was defined as the number of patients who were offered and consented to participate in MyCode. Effectiveness of DNA screening was measured by reviewing MyCode program publications and synthesizing findings from themes. Adoption was measured by the total number of DNA screening tests ordered by clinicians at the clinical pilot sites. Implementation was assessed by interviewing a subset of clinical pilot clinicians about the deployment of and recommended adaptations to the pilot that could inform future program dissemination. Results: Reach: As of August 2020, 68% (215,078/316,612) of individuals approached to participate in the MyCode program consented. Effectiveness: Published evidence reported from MyCode demonstrates that DNA screening identifies at-risk individuals more comprehensively than clinical ascertainment based on phenotypes or personal/family history. Adoption: From July 2018 to June 2021, a total of 1,026 clinical DNA screening tests were ordered by 60 clinicians across the three pilot clinic sites. Implementation: Interviews with 14 clinicians practicing at the pilot clinic sites revealed motivation to provide patients with DNA screening results and yielded future implementation strategies. Conclusion: The RE-AIM framework offers a pragmatic solution to organize, analyze, and report outcomes across differently resourced and designed precision health programs that include genomic sequencing and return of clinically actionable genomic information.

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Project description:INTRODUCTION:The rising popularity of social media, since their inception around 20 years ago, has been echoed in the growth of health-related research using data derived from them. This has created a demand for literature reviews to synthesise this emerging evidence base and inform future activities. Existing reviews tend to be narrow in scope, with limited consideration of the different types of data, analytical methods and ethical issues involved. There has also been a tendency for research to be siloed within different academic communities (eg, computer science, public health), hindering knowledge translation. To address these limitations, we will undertake a comprehensive scoping review, to systematically capture the broad corpus of published, health-related research based on social media data. Here, we present the review protocol and the pilot analyses used to inform it. METHODS:A version of Arksey and O'Malley's five-stage scoping review framework will be followed: (1) identifying the research question; (2) identifying the relevant literature; (3) selecting the studies; (4) charting the data and (5) collating, summarising and reporting the results. To inform the search strategy, we developed an inclusive list of keyword combinations related to social media, health and relevant methodologies. The frequency and variability of terms were charted over time and cross referenced with significant events, such as the advent of Twitter. Five leading health, informatics, business and cross-disciplinary databases will be searched: PubMed, Scopus, Association of Computer Machinery, Institute of Electrical and Electronics Engineers and Applied Social Sciences Index and Abstracts, alongside the Google search engine. There will be no restriction by date. ETHICS AND DISSEMINATION:The review focuses on published research in the public domain therefore no ethics approval is required. The completed review will be submitted for publication to a peer-reviewed, interdisciplinary open access journal, and conferences on public health and digital research.

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

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