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

      1 , 2 , 3 , 4 , 1
      Translational Behavioral Medicine
      Oxford University Press (OUP)

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          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.

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          Systematic review or scoping review? Guidance for authors when choosing between a systematic or scoping review approach

          Background Scoping reviews are a relatively new approach to evidence synthesis and currently there exists little guidance regarding the decision to choose between a systematic review or scoping review approach when synthesising evidence. The purpose of this article is to clearly describe the differences in indications between scoping reviews and systematic reviews and to provide guidance for when a scoping review is (and is not) appropriate. Results Researchers may conduct scoping reviews instead of systematic reviews where the purpose of the review is to identify knowledge gaps, scope a body of literature, clarify concepts or to investigate research conduct. While useful in their own right, scoping reviews may also be helpful precursors to systematic reviews and can be used to confirm the relevance of inclusion criteria and potential questions. Conclusions Scoping reviews are a useful tool in the ever increasing arsenal of evidence synthesis approaches. Although conducted for different purposes compared to systematic reviews, scoping reviews still require rigorous and transparent methods in their conduct to ensure that the results are trustworthy. Our hope is that with clear guidance available regarding whether to conduct a scoping review or a systematic review, there will be less scoping reviews being performed for inappropriate indications better served by a systematic review, and vice-versa.
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            Socioeconomic status and health: mediating and moderating factors.

            Health disparities (differences in health by socioeconomic groups) are a pressing issue in our society. This article provides an overview of a multilevel approach that seeks to understand the mechanisms underlying health disparities by considering factors at the individual, family, and neighborhood levels. In addition, we describe an approach to connecting these factors to various levels of biological processes (systemic inflammation, cellular processes, and genomic pathways) that drive disease pathophysiology. In the second half of the article, we address the question of why some low-socioeconomic-status (low-SES) individuals manage to maintain good physical health. We identify naturally occurring psychosocial factors that help buffer these individuals from adverse physiological responses and pathogenic processes leading to chronic disease. What is protective for low-SES individuals is not the same as what is protective for high-SES individuals, and this needs to be taken into account in interventions aimed at reducing health disparities.
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              Is Open Access

              Disclosure of Genetic Information and Change in Dietary Intake: A Randomized Controlled Trial

              Background Proponents of consumer genetic tests claim that the information can positively impact health behaviors and aid in chronic disease prevention. However, the effects of disclosing genetic information on dietary intake behavior are not clear. Methods A double-blinded, parallel group, 2∶1 online randomized controlled trial was conducted to determine the short- and long-term effects of disclosing nutrition-related genetic information for personalized nutrition on dietary intakes of caffeine, vitamin C, added sugars, and sodium. Participants were healthy men and women aged 20–35 years (n = 138). The intervention group (n = 92) received personalized DNA-based dietary advice for 12-months and the control group (n = 46) received general dietary recommendations with no genetic information for 12-months. Food frequency questionnaires were collected at baseline and 3- and 12-months after the intervention to assess dietary intakes. General linear models were used to compare changes in intakes between those receiving general dietary advice and those receiving DNA-based dietary advice. Results Compared to the control group, no significant changes to dietary intakes of the nutrients were observed at 3-months. At 12-months, participants in the intervention group who possessed a risk version of the ACE gene, and were advised to limit their sodium intake, significantly reduced their sodium intake (mg/day) compared to the control group (−287.3±114.1 vs. 129.8±118.2, p = 0.008). Those who had the non-risk version of ACE did not significantly change their sodium intake compared to the control group (12-months: −244.2±150.2, p = 0.11). Among those with the risk version of the ACE gene, the proportion who met the targeted recommendation of 1500 mg/day increased from 19% at baseline to 34% after 12 months (p = 0.06). Conclusions These findings demonstrate that disclosing genetic information for personalized nutrition results in greater changes in intake for some dietary components compared to general population-based dietary advice. Trial Registration ClinicalTrials.gov NCT01353014
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                Author and article information

                Contributors
                (View ORCID Profile)
                Journal
                Translational Behavioral Medicine
                Oxford University Press (OUP)
                1869-6716
                1613-9860
                April 01 2021
                April 26 2021
                September 09 2020
                April 01 2021
                April 26 2021
                September 09 2020
                : 11
                : 4
                : 901-911
                Affiliations
                [1 ]Behavioral, Social and Health Education Sciences Department, Emory University, Atlanta, GA, USA
                [2 ]Woodruff Health Science Center Library, Emory University, Atlanta, GA, USA
                [3 ]Office of Genomics and Precision Public Health, Office of Science, Centers for Disease Control and Prevention, Atlanta, GA, USA
                [4 ]Gene and Environment Interaction Section, National Human Genome Research Institute, Bethesda, MD, USA
                Article
                10.1093/tbm/ibaa076
                32902617
                b30cdb9d-e7e9-40af-b2ea-d865f7f5bbd7
                © 2020

                https://academic.oup.com/journals/pages/open_access/funder_policies/chorus/standard_publication_model

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