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      The role of race and ethnicity in views toward and participation in genetic studies and precision medicine research in the United States: A systematic review of qualitative and quantitative studies

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          Abstract

          Background

          Racial/ethnic minority populations in the United States are consistently underrepresented in genetic research. Large‐scale public participation is required to ensure discoveries from precision medicine research are applicable to everyone. To evaluate views toward and facilitators of participation among minority populations in the United States, we conducted a systematic review of literature.

          Methods

          Six databases were searched for articles published from 2005 to 2018 assessing minority populations’ views and/or willingness to participate in genetic research. A thematic framework was applied to extracted data to synthesize findings, and the Socio‐Ecological Model was used to evaluate papers.

          Results

          Review of 2,229 titles and abstracts identified 27 papers ( n = 8 qualitative, n = 19 quantitative). Themes included knowledge of genetics, engagement in research, facilitators and barriers to participation, and cultural considerations. Understanding of genetics was low, yet the majority of participants were willing to participate in genetic research among all populations included in the literature (range: 57%–97%). Recommendations for research included utilizing community‐based participatory approaches, evaluating participants’ informational needs, incentivizing participation, and providing direct benefits (e.g., genetic test results).

          Conclusion

          Results could influence future study designs that incorporate all levels of the Socio‐Ecological Model and better meet the needs of underrepresented groups, thereby ensuring precision medicine research findings are applicable to all.

          Abstract

          This systematic review details the general public's knowledge of genetics, engagement and participation in genetic research, facilitators and barriers to participation in research, and cultural considerations for conducting genetic research with minority populations. We conclude that the majority of participants of all racial and ethnic backgrounds are willing to participate in precision medicine research studies. However, there are many different facilitators and barriers to participation that may not be as simple as previously outlined in the literature and which must be collectively addressed in order to create more inclusive research practices.

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          Most cited references42

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          Next generation disparities in human genomics: concerns and remedies.

          Studies of human genetics, particularly genome-wide association studies (GWAS), have concentrated heavily on European populations, with individuals of African ancestry rarely represented. Reasons for this include the distribution of biomedical funding and the increased population structure and reduced linkage disequilibrium in African populations. Currently, few GWAS findings have clinical utility and, therefore, the field has not yet contributed to health-care disparities. As human genomics research progresses towards the whole-genome sequencing era, however, more clinically relevant results are likely to be discovered. As we discuss here, to avoid the genetics community contributing to healthcare disparities, it is important to adopt measures to ensure that populations of diverse ancestry are included in genomic studies, and that no major population groups are excluded.
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            Racial/Ethnic Disparities in Genomic Sequencing

            Importance Although poorly understood, there is heterogeneity in the molecular biology of cancer across race and ethnicities. The representation of racial minorities in large genomic sequencing efforts is unclear, and could have an impact on health care disparities. Objective To determine the racial distribution among samples sequenced within The Cancer Genome Atlas (TCGA) and the deficit of samples needed to detect moderately common mutational frequencies in racial minorities. Design, Setting, and Participants This was a retrospective review of individual patient data from TCGA data portal accessed in July 2015. TCGA comprises samples from a wide array of institutions primarily across the United States. Samples from 10 of the 31 currently available tumor types were analyzed, comprising 5729 samples from the approximately 11 000 available. Main Outcomes and Measures Using the estimated median somatic mutational frequency, the samples needed beyond TCGA to detect a 10% and 5% mutational frequency over the background somatic mutation frequency were calculated for each tumor type by racial ethnicity. Results Of the 5729 samples, 77% (n = 4389) were white, 12% (n = 660) were black, 3% (n = 173) were Asian, 3% (n = 149) were Hispanic, and less than 0.5% combined were from patients of Native Hawaiian, Pacific Islander, Alaskan Native, or American Indian decent. This overrepresents white patients compared with the US population and underrepresents primarily Asian and Hispanic patients. With a somatic mutational frequency of 0.7 (prostate cancer) to 9.9 (lung squamous cell cancer), all tumor types from white patients contained enough samples to detect a 10% mutational frequency. This is in contrast to all other racial ethnicities, for which group-specific mutations with 10% frequency would be detectable only for black patients with breast cancer. Group-specific mutations with 5% frequency would be undetectable in any racial minority, but detectable in white patients for all cancer types except lung (adenocarcinoma and squamous cell carcinoma) and colon cancer. Conclusions and Relevance It is probable, but poorly understood, that ethnic diversity is related to the pathogenesis of cancer, and may have an impact on the generalizability of findings from TCGA to racial minorities. Despite the important benefits that continue to be gained from genomic sequencing, dedicated efforts are needed to avoid widening the already pervasive gap in health care disparities.
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              Attitudes and beliefs of African Americans toward participation in medical research.

              To describe barriers to participation of African Americans in research. Focus group interviews conducted in 1997. Thirty-three African-American adults presenting to an urban public hospital for outpatient medical care participated in one of five focus groups. African-American patients' attitudes toward medical research were measured. Mistrust of doctors, scientists, and the government was reported consistently by the participants. Many participants described concerns about the ethical conduct of clinicians and investigators when poor or minority patients are involved and cited examples of exploitation as supporting evidence for their mistrust of the medical establishment. While participants were clear about the violation of human rights in the Tuskegee Syphilis Study, all were misinformed of the historical facts of the study. Few participants understood the concept of informed consent. Participants saw signing the document as relinquishing their autonomy and as a legal protection for physicians. Despite these concerns, participants gave recommendations to improve minority participation in research. African-American participants in this study described distrust of the medical community as a prominent barrier to participation in clinical research. Participants described real and perceived examples of exploitation to support their distrust of researchers. The goal of the consent process, to inform patients of risks and benefits so as to facilitate self-determination, was misinterpreted by these participants. Understanding the importance of interpersonal trust within the clinical relationship may prove to be a significant factor in enhancing participation in clinical trials.
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                Author and article information

                Contributors
                zier0034@umn.edu
                Journal
                Mol Genet Genomic Med
                Mol Genet Genomic Med
                10.1002/(ISSN)2324-9269
                MGG3
                Molecular Genetics & Genomic Medicine
                John Wiley and Sons Inc. (Hoboken )
                2324-9269
                23 December 2019
                February 2020
                : 8
                : 2 ( doiID: 10.1002/mgg3.v8.2 )
                : e1099
                Affiliations
                [ 1 ] Department of Genetics, Cell Biology, and Development University of Minnesota Minneapolis MN USA
                [ 2 ] Department of Family Medicine and Community Health University of Minnesota Minneapolis MN USA
                [ 3 ] Department of Biochemistry, Molecular Biology, and Biophysics University of Minnesota Minneapolis MN USA
                [ 4 ] University of Minnesota Libraries Minneapolis MN USA
                Author notes
                [*] [* ] Correspondence

                Heather A. Zierhut, 6‐160 Jackson Hall, 321 Church St. SE, Minneapolis, MN 55455, USA.

                Email: zier0034@ 123456umn.edu

                Author information
                https://orcid.org/0000-0002-7560-1826
                https://orcid.org/0000-0003-1941-664X
                Article
                MGG31099
                10.1002/mgg3.1099
                7005620
                31867882
                1b8a48ec-5549-4e8b-96f7-67d9de38c6bc
                © 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.

                This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.

                History
                : 04 September 2019
                : 18 November 2019
                : 10 December 2019
                Page count
                Figures: 1, Tables: 1, Pages: 34, Words: 17746
                Funding
                Funded by: National Society of Genetic Counselors , open-funder-registry 10.13039/100010237;
                Funded by: University of Minnesota , open-funder-registry 10.13039/100007249;
                Funded by: National Institutes of Health , open-funder-registry 10.13039/100000002;
                Categories
                Original Article
                Original Articles
                Custom metadata
                2.0
                February 2020
                Converter:WILEY_ML3GV2_TO_JATSPMC version:5.7.5 mode:remove_FC converted:07.02.2020

                genetic research,precision medicine research,racial/ethnic minorities,research participation strategies

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