Inclusion of Diverse Populations in Genomics Research: A Survey of Investigators

Inclusion of Diverse Populations in Genomics Research: A Survey of Investigators | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Article Inclusion of Diverse Populations in Genomics Research: A Survey of Investigators Pilar Trelles, Tatiana Sabin, Michelle Ramos, Mimsie Robinson, and 4 more This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-5551656/v1 This work is licensed under a CC BY 4.0 License Status: Posted Version 1 posted You are reading this latest preprint version Abstract Inclusion of diverse populations in genomic research is crucial for reducing health disparities, yet recruitment remains inadequate. This study surveyed 91 NIH-funded investigators on their practices and perspectives regarding the recruitment and retention of underrepresented populations (URP) in genomic research. Most respondents were White, male, full professors conducting studies in the U.S., while researchers recruiting primarily Hispanic/Latino or Black/African American participants were more likely to be younger, female, and belong to a URP themselves. Recruitment goals were more frequently met for White participants than for URPs. Despite understanding the challenges of URP recruitment, investigators found meeting targets "very or extremely difficult." While no significant differences in recruitment practices were observed between those focusing on URPs and those recruiting primarily White participants, descriptive differences emerged. Most respondents agreed that the NIH should monitor URP recruitment but felt researchers shouldn’t be penalized for failing to meet targets. The findings suggest that while NIH-funded researchers are aware of strategies to improve URP recruitment, few routinely implement them, citing inadequate infrastructure and funding. Systemic changes at the individual, institutional, and policy levels are needed to address these barriers. Health sciences/Medical research/Genetics research Biological sciences/Genetics/Genomics/Personalized medicine Scientific community and society/Scientific community/Research management Genomic research Survey Investigator Health disparities Underrepresented populations Community engagement Recruitment strategies Figures Figure 1 INTRODUCTION To integrate precision medicine into everyday clinical practice 1 – 3 and enhance the promise of genomics to benefit all populations 4 – 7 , studies need to include racially and ethnically diverse populations [hereafter referred jointly as underrepresented populations (URPs)] 8 – 15 . However, URPs continue to be underrepresented in genomic research, 16 and are significantly less likely to undergo clinical genetic testing 17 – 20 , which may exacerbate disparities 21 , 22 . While the National Human Genome Research Institute has funded several consortia 23 , which have an aim to diversify research participants 24 , there is persistent over-representation of individuals of European ancestry 16 , 25 – 27 . Reasons for inadequate progress in achieving greater diversity include sequelae of medical racism 28 , 29 , earned skepticism or lack of trust among potential participants in research, poor knowledge translation, stigma, researchers’ limited cultural competence, lack of concerted efforts to educate people about benefits of research participation, and structural inequalities (e.g., transportation, technology) 19 , 30 – 34 . Strategies to enhance diversity, such as engagement of community partners to address mistrust and incorporate community priorities into research 35 – 38 , dedicated funding, more data driven approaches and increasing the diversity of researchers and clinicians 15 , 24 , 26 , 39 , could prove instrumental in increasing research diversity. To examine the causes of underrepresentation in genomics research, most studies have assessed the attitudes of patients and community representatives towards participation. In contrast, there is a paucity of literature on investigators’ perspectives. We therefore aimed to identify what genomic investigators and clinical research leaders viewed as barriers and facilitators of engaging participants from diverse ancestries in research. METHODS Survey Development Investigators from the Implementing Genomics in Practice (IGNITE) 40 research consortium developed a survey to obtain critical insights from investigators on perceived challenges and successes in recruitment and retention of diverse populations in genetic and genomic research. An in-depth literature review and substantive discussions with members of several other NHGRI consortia tasked with recruiting diverse individuals identified core topics to examine in the survey. These included: (1) Study design and development (including study purpose, participant characteristics, recruitment location and targets); (2) practices used to recruit and retain diverse populations; (3) training, experience and demographic characteristics of research team members; (4) stakeholder involvement, and (5) perceptions around recruitment barriers and facilitators and reporting to funding agencies. Investigators from these groups and NHGRI intramural researchers reviewed the survey and provided feedback (e.g., language clarity and consistency) and the team programmed the survey into Research Electronic Data Capture (REDCap) 41 . The survey utilized the federally sponsored statistical data collection 42,43 categories of Hispanic/Latino, Black/African American (AA), Asian/Pacific Islander, White, American Indian, more than one group or other. We instructed them to answer survey questions when thinking about a study they most recently completed (not an ongoing study). Subjects and Survey Distribution After approval by the Institutional Review Board, investigators distributed the survey via email to members of NHGRI consortia; investigators with NIH-funded genetics and genomics studies in NIH RePORTER and clinicaltrials.gov; and investigators identified through academic institution genetics/genomics department websites. Eligible investigators were major contributors (Principal Investigator, Co-Investigator or Director) of an NIH-funded genetic or genomic study involving human subjects which had completed recruitment within the past five years. and who had direct involvement with recruitment and retention. We invited potential individuals to participate between September and December of 2019 and all received a minimum of two reminders and a timeline of 12 weeks to respond. Participation was voluntary and anonymous, and participants were offered a $100 gift card. Data analysis We analyzed the data using Stata 16 Software 44 and created graphs using GraphPad Prism 45 . We computed descriptive statistics and grouped and compared them according to relevant survey domains. We grouped studies into those that had primarily recruited White individuals (i.e., > 50% of target recruitment) and those that had primarily recruited one or more URP (i.e., any other racial and ethnic group) and used chi-square tests to compare respondents’ answers between groups. We also compared responses of researchers who were vs were not successful in meeting their recruitment targets for URPs. Given that respondents provided enrollment data for studies of varying sample sizes, designs, study populations and levels of success in their overall recruitment goals, reported enrollment proportions represent random variables resulting from the underlying recruitment process. As such we calculated an exact 95% upper bound for the enrollment proportion represented by each racial/ethnic group, using a similar approach to Durant et al (2007) 46 . We then compared the recruitment goal to the 95% upper bound of the enrollment proportion to determine if a study failed or succeeded in meeting their recruitment goals. We used McNemar's test for matched pairs to look for statistically significant differences between the failure rates in the recruitment of any two racial or ethnic groups for one study. Chi-square tests examined the relationships between respondents’ answers and the failure or success to reach the recruitment goal for each racial/ethnic group. All statistically significant findings are reported at a p < 0.05 . RESULTS Of the 146 researchers who expressed interest in participating in the study, 95 met eligibility criteria (Fig. 1), 91 (96%) participated and there was complete data for 69 people. We included responses from complete and incomplete surveys in analyses. Researchers Demographics and Professional Experience Participants most commonly identified as male, White, and full professors with a doctoral degree, had at least 16 years of research experience, and were affiliated with an academic institution (n = 60; 88.2%; Table 1). Those who primarily recruited White participants were older than 55, White and male; the majority who primarily recruited URPs were 55 years of age or younger, female and belonged to a URP themselves, with Black researchers being exclusively involved in studies that recruited at least some Black individuals. (Supplemental Table). Study Design and Recruitment Targets Respondents were involved in a wide range of study types; clinical interventions were most common (44% of responses). Nearly all (86% of studies) were conducted solely in the US and nearly half recruited solely in the Northeast US (43.7%). Recruitment targets for research participants ranged from 15 to 250,000 (4126 ± 27038; median = 500); 17% were pediatric; 63% adult and 20% were studies of both age groups. Enrollment targets varied by race/ethnicity: 17% solely recruited specific URPs; 66% did not have a target for any minority groups, and 32% set recruitment goals across all racial/ethnic groups. The highest goals for recruitment were set for Black individuals (92% of those with racial/ethnic targets) and the lowest was for Native Hawaiian/Pacific Islander populations (49%). A majority (61%) included participants who spoke a language other than English, with Spanish being most common (53%), followed by Chinese (9%). Of the projects conducted exclusively in the U.S., 68% recruited participants that spoke a primary language other than English; however, only 65% of these had materials translated into the other language. Overall, 77% of participants reported meeting recruitment targets on time, including 100% of studies which aimed to recruit solely one URP. Studies recruiting URP and non-UPR individuals were more likely to meet their recruitment goals for White participants than for any URPs (Table 2; all p < 0.05 ) with no significant difference among URP groups. Practices Used for Recruitment and Retention Nearly all (98%) recruited during regular business hours; fewer recruited on weekends (33%), early morning (43%), and evening weekdays (47%). Respondents that solely recruited Black or Asian were more likely to recruited outside regular business hours than studies recruiting Hispanic/Latino people (Supplemental table). More respondents rated weekday business hours (77%) and evening hours (62%) to be very or extremely effective compared to only 34% for early morning hours and 44% for weekend recruitment. Researchers mainly recruited in academic centers (77%) followed by community hospitals (36%), non-clinical community settings (26%), and previously existing cohorts (e.g., registries) or social media/web-based (each 4%). Only 59% of respondents reported that their studies had follow-up assessments. The retention rate for studies which recruited mostly URPs was similar to the retention rate for studies primarily recruiting White participants (75% vs 85%, X 2 = 0.2, p = 0.7). Table 3 summarizes strategies that facilitated retention. Collecting multiple forms of contact was more commonly used as a retention strategy for studies primarily recruiting White individuals than for studies mostly recruiting URPs (X 2 = 7.1, p = 0.008). There were no statistical differences between groups for the other strategies. Training and Experience of Research Team Most researchers (87%) provided training for the recruitment of URPs. Of these, 61% provided training lasting one full day or more. The most common training techniques included observation and feedback (61%), role playing (50%) and reading protocol materials (78%). Only 59% indicated that they met weekly with their teams and 84% stated that they provided some guidance and support to recruiters to overcome difficulties in the recruitment of URPs. Among the 57% who requested specific feedback from their staff about recruitment of URP, 91% reported implementing changes based on staff input, Stakeholder Involvement Most researchers (75%) reported involving stakeholders in the research process. As summarized in Table 4, these stakeholders mainly included clinicians or other healthcare providers, followed by patients and advocates, and were less likely to include payers and public health entities. The most common involvement related to recruitment and retention but, as shown, stakeholders were involved in other key decisions and activities in all domains in over half the cases. To further characterize stakeholder involvement in recruitment as it relates to recruitment of URPs, we compared responses from researchers that led studies that mostly recruited a specific URP (e.g., > 50% of total study sample Black/AA) and those primarily recruiting White individuals (Supplemental Table). While there were no statistically significant differences in their responses, some observations are noteworthy. Recruitment of URP individuals was more successful in studies that aimed to recruit a specific URP group than in studies that aimed to recruit multiple groups. Studies focusing on a specific URP were more likely to involve patients, community-based agencies, advocates and/or public health entities than those recruiting primarily White individuals. Researchers involved in studies with recruitment of specific URP groups were also less likely to report encountering mistrust from study participants from minority backgrounds than researchers involved in studies with recruitment of mostly White individuals. Researchers’ Perceptions on Barriers and Facilitators and Recruitment Practices Of the 74 respondents who provided answers regarding barriers and facilitators in the recruitment of URPs, 58% reported that they understood “very much” or “extremely well” the challenges involved in the recruitment of URP. Nonetheless, 36.4% reported they found overcoming these challenges “somewhat” difficult, and 32.4% found it “very” or “extremely difficult”. Over half of investigators (55%) felt discouraged to enroll URPs due to the higher number of resources needed. They perceived that individuals from URPs were less likely to participate in research due to lack of time (76%), competing demands (58%) and distrust of research (49%), and cited shortage of recruiters (50%) and inadequate funding (34%) as the most common barriers they encounter in their own studies. Recruitment facilitators included quality of recruiters (61%), adequate incentives/stipends (39%) and flexibility with recruitment practices (43%). The most important qualities cited for successful recruiters were the ability to engage participants (71%) and personal knowledge of the recruited population (e.g., same cultural background and knowledge of the community; 70%). Finally, we asked researchers about their views on recruitment reporting to the NIH. Under half (42%) track recruitment for reasons other than reporting to the NIH. Investigators were split on the accountability that federal agencies should place on grant recipients for the level of diversity in their enrollment plans (yes = 51%; no = 49%). However, the vast majority (85%) agreed federal agencies should monitor annually whether actual URP enrollment matches planned enrollment. Only 38% agreed that award funding and drug/device approval should be contingent upon recruitment of populations representative of the demographics of the U.S. DISCUSSION Despite a growing number of federally funded consortia and NIH-driven initiatives to improve inclusion of ethnically diverse individuals in genetic research, progress has been slow. In this study, we present results from a survey of 91 investigators on the recruitment of diverse groups into genomic studies. We found that younger and female researchers from underrepresented populations (URPs) often led studies involving Hispanic/Latino and Black/African American participants, contrasting with older, White, male researchers leading studies with primarily White participants. Studies that aimed to recruit a specific URP group were more likely to meet their goals than studies recruiting multiple populations. Stakeholder involvement was higher in studies focusing on specific URPs; and researchers involved in these studies were less likely to report mistrust from URP participants. Only two-thirds of those recruiting non-English speaking participants had study materials available in those languages. Most researchers found it difficult to recruit URP populations, and over half felt discouraged to enroll URPs due to the higher number of resources needed. Researchers identified lack of time, competing demands, and distrust as barriers to URP participation, with quality recruiters and adequate incentives cited as facilitators. Less than half of researchers tracked diversity other than to report metrics to the NIH, and while most supported annual monitoring by the NIH, few thought failure to meet diversity metrics should impact funding or device approval. Results suggest that more diverse researchers were more successful and encountered fewer barriers to recruit URP populations and align with previous findings that teams comprised of ethnically and gender diverse individuals produce higher quality scientific data 47 , 48 . Yet, even when educational background, country of origin, training and previous research experience is accounted for, individuals belonging to an URP are less likely to get funded 49 or published 50 ; and efforts should continue to diversify the research workforce at all levels of the study team. Importantly, a systematic review on perspectives of individuals from racial and ethnic minority backgrounds on barriers and facilitators for research participation found that all URPs preferred to have community-based, linguistically appropriate, and personalized recruitment practices conducted by culturally matched research personnel 51 . In studies that recruited White and URP individuals, researchers were significantly more likely to meet recruitment goals for White individuals than for any URP group, but there were no significant differences in recruitment success between URPs. Yet, those more exclusively focused on one URP group were more successful than any other studies, and in recruiting their population in the allotted time, and researchers in this latter group almost always listed the involvement of community-based organizations as key to support diverse recruitment. This may suggest, as has been previously reported, that successful recruitment of different ethnic and racial groups requires specific approaches for specific populations 51 and that when URP recruitment is a priority, studies are successful in meeting their goals. Funders are increasingly requesting more granular plans for diverse recruitment and for engaging diverse stakeholders in planning research and recruitment strategies. It may be important to track recruitment metrics over time to see if such plans are sufficient to eliminate recruitment disparities and to solve problems that arise. Our team has done so in several recent studies 52 , 53 . Additionally, researchers that led studies with a majority White recruitment reported encountering distrust from people from URP backgrounds more frequently than researchers involved in studies with a majority URP recruitment. This distrust could stem from recruitment practices, since studies that aimed to recruit specific URP groups were more likely to involve patients, community-based agencies, public health agencies and advocacy groups in the research process. This is supported by prior studies that suggest excluding community representatives in the research process leads to misconceptions, distrust, and barriers to participation 54 . On the other hand, this could represent bias that some researchers have that URP individuals are less trusting than others, particularly given how challenging researchers find recruiting these priority populations and how discouraged they report feeling about these efforts. Continuing to uncover participant-reported barriers and working with community partners to address them will be critical in future efforts. The study demonstrates shortages of staff and resources as key recruitment barriers, a finding that aligns with results from prior studies in other areas of the biomedical sciences 30 , 51 . The combination of viewing diverse individuals as more difficult and more costly to recruit may discourage researchers from prioritizing diverse populations. It will be important to dispel such misconceptions, increase the diverse research workforce that has had more success recruiting URPs, and adequately fund recruitment, to allow for stipends and help with transportation and childcare, for example, known facilitators for research participation in URPs 54 – 58 . And, as most recognized that the recruiters’ ability to engage participants, and their personal knowledge of the target population(s) is critical to successful recruitment of diverse populations, it is important to help researchers hire, train and retain appropriate recruiters. These individuals establish relationships and trust with community agencies and individual community members/patients (i.e., “invisible work”), akin to that observed in other contexts 59 . Furthermore, employment of diverse recruiters can not only facilitate outreach to target populations but can also promote early career opportunities and spark an interest in research among individuals from under-represented backgrounds, both factors that have been identified as important in supporting the career development of minority researchers 26 , 49 . Finally, while nearly all respondents agreed that funding agencies should monitor recruitment efforts and encourage the implementation of mitigation plans when discrepancies arise between recruitment targets and actual enrollment, only half believed that federal agencies should hold researchers accountable. Furthermore, fewer than half reported tracking recruitment of URPs for purposes other than NIH reporting. Until the research community demonstrates greater commitment to tracking, monitoring, and prioritizing the recruitment of URPs, continued or expanded NIH oversight may be warranted. This recommendation aligns with recent guidance from scientific journals 50 and regulatory agencies 60 , which emphasize stringent practices for promoting equity, diversity, and inclusion throughout the research process. Limitations Our study sample included relatively few researchers from minority backgrounds and was significantly skewed toward individuals who identified as White, male, and full professors with more than 20 years of research experience. In addition, ascertainment bias may have influenced our findings, as individuals with a strong interest in and prioritization of diversity and inclusion in research may have been more likely to respond to the survey. A larger and more diverse sample size would have enabled more nuanced analyses and increased the generalizability of our findings. Additionally, limited follow-up assessments across studies resulted in limited retention data. Finally, our study primarily reflects the perspectives of established researchers in 2019, which may not fully capture the views or evolving priorities of younger researchers who are potentially more attuned to the importance of diversity and inclusion in research. Conclusion The inclusion of diverse populations in genomics research is essential to reducing health disparities, yet recruitment remains inadequate. Our survey highlights that while researchers are generally aware of strategies to improve diversity, implementation is limited by infrastructure and funding challenges. Key steps to enhance minority participation include extending recruitment hours, engaging community-based agencies, patients and advocates, and offering higher financial incentives for participants. Diversifying the research workforce can further improve outcomes by fostering trust and engagement with underrepresented groups. Achieving meaningful progress will require researchers, funding agencies, and community stakeholders to forge strong partnerships, share accountability, and embed measurable diversity goals at the core of these efforts. Declarations Author contributions PT drafted the manuscript and conducted the statistical analysis and interpretation. TS contributed to the conceptualization and design of the study, participated in data collection and study execution, and reviewed and edited the manuscript. MRa contributed to the conceptualization and design of the study, participated in data collection and study execution, and reviewed and edited the manuscript. MRo contributed to the conceptualization and design of the study and reviewed and edited the manuscript. TL assisted in drafting the manuscript. EM contributed to the conceptualization and design of the study and reviewed and edited the manuscript. CH and NV contributed to the conceptualization and design of the study, participated in data collection and study execution, and revised the manuscript for critical and important intellectual content. All authors read and approved the final manuscript. Acknowledgements We extend our gratitude to all the investigators who participated in the survey and generously shared their valuable insights and experiences. Competing interests The authors declare no competing interests. Materials and correspondence Pilar Trelles ( [email protected] ) References Goodman, D. M., Lynm, C. & Livingston, E. H. Genomic medicine. JAMA - Journal of the American Medical Association Preprint at https://doi.org/10.1001/jama.2013.1927 (2013). De Rubeis, S. et al. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature (2014) doi:10.1038/nature13772. De Rubeis, S. & Buxbaum, J. D. 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Perceptions of barriers and facilitators to participation in clinical trials in HIV-positive Latinas: A pilot study. J Womens Health 16, 1322–1330 (2007). Rivera-Goba, M. V. et al. Exploring Decision-Making of HIV-Infected Hispanics and African Americans Participating in Clinical Trials. Journal of the Association of Nurses in AIDS Care 22, 295–306 (2011). Social Sciences Feminist Network Research Interest Group, U. of O. The Burden of Invisible Work in Academia. Humboldt J Soc Relat 39, 228–245 (2017). U.S. Food and Drug Administration. Diversity Action Plans to Improve Enrollment of Participants from Underrepresented Populations in Clinical Studies Guidance for Industry DRAFT GUIDANCE. https://www.fda.gov/vaccines-blood-biologics/guidance- (2024). Tables Tables are available in the Supplementary Files section. Additional Declarations There is NO Competing Interest. Supplementary Files Supplementaltable1.pdf Suplemental Table Table1.docx Table2.docx Table3.docx Table4.docx Cite Share Download PDF Status: Posted Version 1 posted You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. As a division of Research Square Company, we’re committed to making research communication faster, fairer, and more useful. We do this by developing innovative software and high quality services for the global research community. Our growing team is made up of researchers and industry professionals working together to solve the most critical problems facing scientific publishing. Also discoverable on Platform About Our Team In Review Editorial Policies Advisory Board Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-5551656","acceptedTermsAndConditions":true,"allowDirectSubmit":true,"archivedVersions":[],"articleType":"Article","associatedPublications":[],"authors":[{"id":402600353,"identity":"a79c565c-2911-46fa-86f2-e7c96f115483","order_by":0,"name":"Pilar 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Medicine","correspondingAuthor":false,"prefix":"","firstName":"Tatiana","middleName":"","lastName":"Sabin","suffix":""},{"id":402600355,"identity":"44c65870-88c6-4d49-82f5-5b492b98f9da","order_by":2,"name":"Michelle Ramos","email":"","orcid":"","institution":"Icahn School of Medicine at Mount Sinai","correspondingAuthor":false,"prefix":"","firstName":"Michelle","middleName":"","lastName":"Ramos","suffix":""},{"id":402600356,"identity":"0272f5ab-63e0-4f7a-bffb-0a3578432fa5","order_by":3,"name":"Mimsie Robinson","email":"","orcid":"","institution":"Bethel Gospel Assembly","correspondingAuthor":false,"prefix":"","firstName":"Mimsie","middleName":"","lastName":"Robinson","suffix":""},{"id":402600357,"identity":"6546cec0-5dee-47e8-b17c-8a3c0fd94c2c","order_by":4,"name":"Tess Levy","email":"","orcid":"","institution":"Icahn School of Medicine at Mount 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Sinai","correspondingAuthor":false,"prefix":"","firstName":"Nita","middleName":"","lastName":"Vangeepuram","suffix":""}],"badges":[],"createdAt":"2024-11-30 00:00:10","currentVersionCode":1,"declarations":"","doi":"10.21203/rs.3.rs-5551656/v1","doiUrl":"https://doi.org/10.21203/rs.3.rs-5551656/v1","draftVersion":[],"editorialEvents":[],"editorialNote":"","failedWorkflow":false,"files":[{"id":85931732,"identity":"311e6721-2a39-4eb2-9682-feb1d1083962","added_by":"auto","created_at":"2025-07-03 09:36:34","extension":"png","order_by":1,"title":"Figure 1","display":"","copyAsset":false,"role":"figure","size":161636,"visible":true,"origin":"","legend":"\u003cp\u003eSee image above for figure legend\u003c/p\u003e","description":"","filename":"1.png","url":"https://assets-eu.researchsquare.com/files/rs-5551656/v1/9455300113a2f5b0b1cbd692.png"},{"id":85932854,"identity":"01a1bbc9-dac9-49f5-96c7-9e32fd86e2d3","added_by":"auto","created_at":"2025-07-03 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09:44:34","extension":"docx","order_by":4,"title":"","display":"","copyAsset":false,"role":"supplement","size":189732,"visible":true,"origin":"","legend":"","description":"","filename":"Table3.docx","url":"https://assets-eu.researchsquare.com/files/rs-5551656/v1/574ce286e70f308ef08acbb8.docx"},{"id":85931734,"identity":"22150635-c743-436d-9f7f-9f90b8da9818","added_by":"auto","created_at":"2025-07-03 09:36:34","extension":"docx","order_by":5,"title":"","display":"","copyAsset":false,"role":"supplement","size":289754,"visible":true,"origin":"","legend":"","description":"","filename":"Table4.docx","url":"https://assets-eu.researchsquare.com/files/rs-5551656/v1/c2390a8644a10b34d8be712f.docx"}],"financialInterests":"There is \u003cb\u003eNO\u003c/b\u003e Competing Interest.","formattedTitle":"Inclusion of Diverse Populations in Genomics Research: A Survey of Investigators","fulltext":[{"header":"INTRODUCTION","content":"\u003cp\u003eTo integrate precision medicine into everyday clinical practice\u003csup\u003e\u003cspan additionalcitationids=\"CR2\" citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e\u003c/sup\u003e and enhance the promise of genomics to benefit all populations \u003csup\u003e\u003cspan additionalcitationids=\"CR5 CR6\" citationid=\"CR4\" class=\"CitationRef\"\u003e4\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e\u003c/sup\u003e, studies need to include racially and ethnically diverse populations [hereafter referred jointly as underrepresented populations (URPs)] \u003csup\u003e\u003cspan additionalcitationids=\"CR9 CR10 CR11 CR12 CR13 CR14\" citationid=\"CR8\" class=\"CitationRef\"\u003e8\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR15\" class=\"CitationRef\"\u003e15\u003c/span\u003e\u003c/sup\u003e. However, URPs continue to be underrepresented in genomic research,\u003csup\u003e\u003cspan citationid=\"CR16\" class=\"CitationRef\"\u003e16\u003c/span\u003e\u003c/sup\u003e and are significantly less likely to undergo clinical genetic testing \u003csup\u003e\u003cspan additionalcitationids=\"CR18 CR19\" citationid=\"CR17\" class=\"CitationRef\"\u003e17\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR20\" class=\"CitationRef\"\u003e20\u003c/span\u003e\u003c/sup\u003e, which may exacerbate disparities \u003csup\u003e\u003cspan citationid=\"CR21\" class=\"CitationRef\"\u003e21\u003c/span\u003e,\u003cspan citationid=\"CR22\" class=\"CitationRef\"\u003e22\u003c/span\u003e\u003c/sup\u003e.\u003c/p\u003e \u003cp\u003eWhile the National Human Genome Research Institute has funded several consortia \u003csup\u003e\u003cspan citationid=\"CR23\" class=\"CitationRef\"\u003e23\u003c/span\u003e\u003c/sup\u003e, which have an aim to diversify research participants\u003csup\u003e\u003cspan citationid=\"CR24\" class=\"CitationRef\"\u003e24\u003c/span\u003e\u003c/sup\u003e, there is persistent over-representation of individuals of European ancestry \u003csup\u003e\u003cspan citationid=\"CR16\" class=\"CitationRef\"\u003e16\u003c/span\u003e,\u003cspan additionalcitationids=\"CR26\" citationid=\"CR25\" class=\"CitationRef\"\u003e25\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR27\" class=\"CitationRef\"\u003e27\u003c/span\u003e\u003c/sup\u003e. Reasons for inadequate progress in achieving greater diversity include sequelae of medical racism \u003csup\u003e\u003cspan citationid=\"CR28\" class=\"CitationRef\"\u003e28\u003c/span\u003e,\u003cspan citationid=\"CR29\" class=\"CitationRef\"\u003e29\u003c/span\u003e\u003c/sup\u003e, earned skepticism or lack of trust among potential participants in research, poor knowledge translation, stigma, researchers\u0026rsquo; limited cultural competence, lack of concerted efforts to educate people about benefits of research participation, and structural inequalities (e.g., transportation, technology) \u003csup\u003e\u003cspan citationid=\"CR19\" class=\"CitationRef\"\u003e19\u003c/span\u003e,\u003cspan additionalcitationids=\"CR31 CR32 CR33\" citationid=\"CR30\" class=\"CitationRef\"\u003e30\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR34\" class=\"CitationRef\"\u003e34\u003c/span\u003e\u003c/sup\u003e. Strategies to enhance diversity, such as engagement of community partners to address mistrust and incorporate community priorities into research \u003csup\u003e\u003cspan additionalcitationids=\"CR36 CR37\" citationid=\"CR35\" class=\"CitationRef\"\u003e35\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR38\" class=\"CitationRef\"\u003e38\u003c/span\u003e\u003c/sup\u003e, dedicated funding, more data driven approaches and increasing the diversity of researchers and clinicians\u003csup\u003e\u003cspan citationid=\"CR15\" class=\"CitationRef\"\u003e15\u003c/span\u003e,\u003cspan citationid=\"CR24\" class=\"CitationRef\"\u003e24\u003c/span\u003e,\u003cspan citationid=\"CR26\" class=\"CitationRef\"\u003e26\u003c/span\u003e,\u003cspan citationid=\"CR39\" class=\"CitationRef\"\u003e39\u003c/span\u003e\u003c/sup\u003e, could prove instrumental in increasing research diversity.\u003c/p\u003e \u003cp\u003eTo examine the causes of underrepresentation in genomics research, most studies have assessed the attitudes of patients and community representatives towards participation. In contrast, there is a paucity of literature on investigators\u0026rsquo; perspectives. We therefore aimed to identify what genomic investigators and clinical research leaders viewed as barriers and facilitators of engaging participants from diverse ancestries in research.\u003c/p\u003e"},{"header":"METHODS","content":"\u003cdiv id=\"Sec3\"\u003e\n \u003ch2\u003eSurvey Development\u003c/h2\u003e\n \u003cp\u003eInvestigators from the Implementing Genomics in Practice (IGNITE)\u003csup\u003e40\u003c/sup\u003e research consortium developed a survey to obtain critical insights from investigators on perceived challenges and successes in recruitment and retention of diverse populations in genetic and genomic research. An in-depth literature review and substantive discussions with members of several other NHGRI consortia tasked with recruiting diverse individuals identified core topics to examine in the survey. These included: (1) Study design and development (including study purpose, participant characteristics, recruitment location and targets); (2) practices used to recruit and retain diverse populations; (3) training, experience and demographic characteristics of research team members; (4) stakeholder involvement, and (5) perceptions around recruitment barriers and facilitators and reporting to funding agencies. Investigators from these groups and NHGRI intramural researchers reviewed the survey and provided feedback (e.g., language clarity and consistency) and the team programmed the survey into Research Electronic Data Capture (REDCap) \u003csup\u003e41\u003c/sup\u003e. The survey utilized the federally sponsored statistical data collection\u003csup\u003e42,43\u003c/sup\u003e categories of Hispanic/Latino, Black/African American (AA), Asian/Pacific Islander, White, American Indian, more than one group or other. We instructed them to answer survey questions when thinking about a study they most recently completed (not an ongoing study).\u003c/p\u003e\n\u003c/div\u003e\n\u003ch3\u003eSubjects and Survey Distribution\u003c/h3\u003e\n\u003cp\u003e After approval by the Institutional Review Board, investigators distributed the survey via email to members of NHGRI consortia; investigators with NIH-funded genetics and genomics studies in NIH RePORTER and clinicaltrials.gov; and investigators identified through academic institution genetics/genomics department websites. Eligible investigators were major contributors (Principal Investigator, Co-Investigator or Director) of an NIH-funded genetic or genomic study involving human subjects which had completed recruitment within the past five years. and who had direct involvement with recruitment and retention. We invited potential individuals to participate between September and December of 2019 and all received a minimum of two reminders and a timeline of 12 weeks to respond. Participation was voluntary and anonymous, and participants were offered a $100 gift card.\u003c/p\u003e\n\u003cdiv id=\"Sec5\"\u003e\n \u003ch2\u003eData analysis\u003c/h2\u003e\n \u003cp\u003e We analyzed the data using Stata 16 Software\u003csup\u003e44\u003c/sup\u003e and created graphs using GraphPad Prism \u003csup\u003e45\u003c/sup\u003e. We computed descriptive statistics and grouped and compared them according to relevant survey domains. We grouped studies into those that had primarily recruited White individuals (i.e., \u0026gt; 50% of target recruitment) and those that had primarily recruited one or more URP (i.e., any other racial and ethnic group) and used chi-square tests to compare respondents’ answers between groups. We also compared responses of researchers who were vs were not successful in meeting their recruitment targets for URPs. Given that respondents provided enrollment data for studies of varying sample sizes, designs, study populations and levels of success in their overall recruitment goals, reported enrollment proportions represent random variables resulting from the underlying recruitment process. As such we calculated an exact 95% upper bound for the enrollment proportion represented by each racial/ethnic group, using a similar approach to Durant et al (2007) \u003csup\u003e46\u003c/sup\u003e. We then compared the recruitment goal to the 95% upper bound of the enrollment proportion to determine if a study failed or succeeded in meeting their recruitment goals. We used McNemar's test for matched pairs to look for statistically significant differences between the failure rates in the recruitment of any two racial or ethnic groups for one study. Chi-square tests examined the relationships between respondents’ answers and the failure or success to reach the recruitment goal for each racial/ethnic group. All statistically significant findings are reported at a \u003cem\u003ep \u0026lt; 0.05\u003c/em\u003e.\u003c/p\u003e\n\u003c/div\u003e"},{"header":"RESULTS","content":"\u003cp\u003eOf the 146 researchers who expressed interest in participating in the study, 95 met eligibility criteria (Fig.\u0026nbsp;1), 91 (96%) participated and there was complete data for 69 people. We included responses from complete and incomplete surveys in analyses.\u003c/p\u003e\n\u003ch3\u003eResearchers Demographics and Professional Experience\u003c/h3\u003e\n\u003cp\u003eParticipants most commonly identified as male, White, and full professors with a doctoral degree, had at least 16 years of research experience, and were affiliated with an academic institution (n\u0026thinsp;=\u0026thinsp;60; 88.2%; Table\u0026nbsp;1). Those who primarily recruited White participants were older than 55, White and male; the majority who primarily recruited URPs were 55 years of age or younger, female and belonged to a URP themselves, with Black researchers being exclusively involved in studies that recruited at least some Black individuals. (Supplemental Table).\u003c/p\u003e \u003cdiv id=\"Sec8\" class=\"Section2\"\u003e \u003ch2\u003eStudy Design and Recruitment Targets\u003c/h2\u003e \u003cp\u003e Respondents were involved in a wide range of study types; clinical interventions were most common (44% of responses). Nearly all (86% of studies) were conducted solely in the US and nearly half recruited solely in the Northeast US (43.7%). Recruitment targets for research participants ranged from 15 to 250,000 (4126\u0026thinsp;\u0026plusmn;\u0026thinsp;27038; median\u0026thinsp;=\u0026thinsp;500); 17% were pediatric; 63% adult and 20% were studies of both age groups. Enrollment targets varied by race/ethnicity: 17% solely recruited specific URPs; 66% did not have a target for any minority groups, and 32% set recruitment goals across all racial/ethnic groups. The highest goals for recruitment were set for Black individuals (92% of those with racial/ethnic targets) and the lowest was for Native Hawaiian/Pacific Islander populations (49%). A majority (61%) included participants who spoke a language other than English, with Spanish being most common (53%), followed by Chinese (9%). Of the projects conducted exclusively in the U.S., 68% recruited participants that spoke a primary language other than English; however, only 65% of these had materials translated into the other language.\u003c/p\u003e \u003cp\u003eOverall, 77% of participants reported meeting recruitment targets on time, including 100% of studies which aimed to recruit solely one URP. Studies recruiting URP and non-UPR individuals were more likely to meet their recruitment goals for White participants than for any URPs (Table\u0026nbsp;2; all \u003cem\u003ep\u0026thinsp;\u0026lt;\u0026thinsp;0.05\u003c/em\u003e) with no significant difference among URP groups.\u003c/p\u003e \u003c/div\u003e\n\u003ch3\u003ePractices Used for Recruitment and Retention\u003c/h3\u003e\n\u003cp\u003eNearly all (98%) recruited during regular business hours; fewer recruited on weekends (33%), early morning (43%), and evening weekdays (47%). Respondents that solely recruited Black or Asian were more likely to recruited outside regular business hours than studies recruiting Hispanic/Latino people (Supplemental table). More respondents rated weekday business hours (77%) and evening hours (62%) to be very or extremely effective compared to only 34% for early morning hours and 44% for weekend recruitment. Researchers mainly recruited in academic centers (77%) followed by community hospitals (36%), non-clinical community settings (26%), and previously existing cohorts (e.g., registries) or social media/web-based (each 4%).\u003c/p\u003e \u003cp\u003e Only 59% of respondents reported that their studies had follow-up assessments. The retention rate for studies which recruited mostly URPs was similar to the retention rate for studies primarily recruiting White participants (75% vs 85%, X\u003csup\u003e2\u003c/sup\u003e\u0026thinsp;=\u0026thinsp;0.2, \u003cem\u003ep\u003c/em\u003e\u0026thinsp;=\u0026thinsp;0.7). Table\u0026nbsp;3 summarizes strategies that facilitated retention. Collecting multiple forms of contact was more commonly used as a retention strategy for studies primarily recruiting White individuals than for studies mostly recruiting URPs (X\u003csup\u003e2\u003c/sup\u003e\u0026thinsp;=\u0026thinsp;7.1, \u003cem\u003ep\u003c/em\u003e\u0026thinsp;=\u0026thinsp;0.008). There were no statistical differences between groups for the other strategies.\u003c/p\u003e\n\u003ch3\u003eTraining and Experience of Research Team\u003c/h3\u003e\n\u003cp\u003eMost researchers (87%) provided training for the recruitment of URPs. Of these, 61% provided training lasting one full day or more. The most common training techniques included observation and feedback (61%), role playing (50%) and reading protocol materials (78%). Only 59% indicated that they met weekly with their teams and 84% stated that they provided some guidance and support to recruiters to overcome difficulties in the recruitment of URPs. Among the 57% who requested specific feedback from their staff about recruitment of URP, 91% reported implementing changes based on staff input,\u003c/p\u003e \u003cdiv id=\"Sec11\" class=\"Section2\"\u003e \u003ch2\u003eStakeholder Involvement\u003c/h2\u003e \u003cp\u003eMost researchers (75%) reported involving stakeholders in the research process. As summarized in Table\u0026nbsp;4, these stakeholders mainly included clinicians or other healthcare providers, followed by patients and advocates, and were less likely to include payers and public health entities. The most common involvement related to recruitment and retention but, as shown, stakeholders were involved in other key decisions and activities in all domains in over half the cases.\u003c/p\u003e \u003cp\u003e To further characterize stakeholder involvement in recruitment as it relates to recruitment of URPs, we compared responses from researchers that led studies that mostly recruited a specific URP (e.g., \u0026gt;\u0026thinsp;50% of total study sample Black/AA) and those primarily recruiting White individuals (Supplemental Table). While there were no statistically significant differences in their responses, some observations are noteworthy. Recruitment of URP individuals was more successful in studies that aimed to recruit a specific URP group than in studies that aimed to recruit multiple groups. Studies focusing on a specific URP were more likely to involve patients, community-based agencies, advocates and/or public health entities than those recruiting primarily White individuals. Researchers involved in studies with recruitment of specific URP groups were also less likely to report encountering mistrust from study participants from minority backgrounds than researchers involved in studies with recruitment of mostly White individuals.\u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec12\" class=\"Section2\"\u003e \u003ch2\u003eResearchers\u0026rsquo; Perceptions on Barriers and Facilitators and Recruitment Practices\u003c/h2\u003e \u003cp\u003eOf the 74 respondents who provided answers regarding barriers and facilitators in the recruitment of URPs, 58% reported that they understood \u0026ldquo;very much\u0026rdquo; or \u0026ldquo;extremely well\u0026rdquo; the challenges involved in the recruitment of URP. Nonetheless, 36.4% reported they found overcoming these challenges \u0026ldquo;somewhat\u0026rdquo; difficult, and 32.4% found it \u0026ldquo;very\u0026rdquo; or \u0026ldquo;extremely difficult\u0026rdquo;.\u003c/p\u003e \u003cp\u003eOver half of investigators (55%) felt discouraged to enroll URPs due to the higher number of resources needed. They perceived that individuals from URPs were less likely to participate in research due to lack of time (76%), competing demands (58%) and distrust of research (49%), and cited shortage of recruiters (50%) and inadequate funding (34%) as the most common barriers they encounter in their own studies. Recruitment facilitators included quality of recruiters (61%), adequate incentives/stipends (39%) and flexibility with recruitment practices (43%). The most important qualities cited for successful recruiters were the ability to engage participants (71%) and personal knowledge of the recruited population (e.g., same cultural background and knowledge of the community; 70%).\u003c/p\u003e \u003cp\u003eFinally, we asked researchers about their views on recruitment reporting to the NIH. Under half (42%) track recruitment for reasons other than reporting to the NIH. Investigators were split on the accountability that federal agencies should place on grant recipients for the level of diversity in their enrollment plans (yes\u0026thinsp;=\u0026thinsp;51%; no\u0026thinsp;=\u0026thinsp;49%). However, the vast majority (85%) agreed federal agencies should monitor annually whether actual URP enrollment matches planned enrollment. Only 38% agreed that award funding and drug/device approval should be contingent upon recruitment of populations representative of the demographics of the U.S.\u003c/p\u003e \u003c/div\u003e"},{"header":"DISCUSSION","content":"\u003cp\u003eDespite a growing number of federally funded consortia and NIH-driven initiatives to improve inclusion of ethnically diverse individuals in genetic research, progress has been slow. In this study, we present results from a survey of 91 investigators on the recruitment of diverse groups into genomic studies. We found that younger and female researchers from underrepresented populations (URPs) often led studies involving Hispanic/Latino and Black/African American participants, contrasting with older, White, male researchers leading studies with primarily White participants. Studies that aimed to recruit a specific URP group were more likely to meet their goals than studies recruiting multiple populations. Stakeholder involvement was higher in studies focusing on specific URPs; and researchers involved in these studies were less likely to report mistrust from URP participants. Only two-thirds of those recruiting non-English speaking participants had study materials available in those languages. Most researchers found it difficult to recruit URP populations, and over half felt discouraged to enroll URPs due to the higher number of resources needed. Researchers identified lack of time, competing demands, and distrust as barriers to URP participation, with quality recruiters and adequate incentives cited as facilitators. Less than half of researchers tracked diversity other than to report metrics to the NIH, and while most supported annual monitoring by the NIH, few thought failure to meet diversity metrics should impact funding or device approval.\u003c/p\u003e \u003cp\u003eResults suggest that more diverse researchers were more successful and encountered fewer barriers to recruit URP populations and align with previous findings that teams comprised of ethnically and gender diverse individuals produce higher quality scientific data \u003csup\u003e\u003cspan citationid=\"CR47\" class=\"CitationRef\"\u003e47\u003c/span\u003e,\u003cspan citationid=\"CR48\" class=\"CitationRef\"\u003e48\u003c/span\u003e\u003c/sup\u003e. Yet, even when educational background, country of origin, training and previous research experience is accounted for, individuals belonging to an URP are less likely to get funded\u003csup\u003e\u003cspan citationid=\"CR49\" class=\"CitationRef\"\u003e49\u003c/span\u003e\u003c/sup\u003e or published \u003csup\u003e\u003cspan citationid=\"CR50\" class=\"CitationRef\"\u003e50\u003c/span\u003e\u003c/sup\u003e; and efforts should continue to diversify the research workforce at all levels of the study team. Importantly, a systematic review on perspectives of individuals from racial and ethnic minority backgrounds on barriers and facilitators for research participation found that all URPs preferred to have community-based, linguistically appropriate, and personalized recruitment practices conducted by culturally matched research personnel \u003csup\u003e\u003cspan citationid=\"CR51\" class=\"CitationRef\"\u003e51\u003c/span\u003e\u003c/sup\u003e.\u003c/p\u003e \u003cp\u003eIn studies that recruited White and URP individuals, researchers were significantly more likely to meet recruitment goals for White individuals than for any URP group, but there were no significant differences in recruitment success between URPs. Yet, those more exclusively focused on one URP group were more successful than any other studies, and in recruiting their population in the allotted time, and researchers in this latter group almost always listed the involvement of community-based organizations as key to support diverse recruitment. This may suggest, as has been previously reported, that successful recruitment of different ethnic and racial groups requires specific approaches for specific populations\u003csup\u003e\u003cspan citationid=\"CR51\" class=\"CitationRef\"\u003e51\u003c/span\u003e\u003c/sup\u003eand that when URP recruitment is a priority, studies are successful in meeting their goals. Funders are increasingly requesting more granular plans for diverse recruitment and for engaging diverse stakeholders in planning research and recruitment strategies. It may be important to track recruitment metrics over time to see if such plans are sufficient to eliminate recruitment disparities and to solve problems that arise. Our team has done so in several recent studies \u003csup\u003e\u003cspan citationid=\"CR52\" class=\"CitationRef\"\u003e52\u003c/span\u003e,\u003cspan citationid=\"CR53\" class=\"CitationRef\"\u003e53\u003c/span\u003e\u003c/sup\u003e.\u003c/p\u003e \u003cp\u003eAdditionally, researchers that led studies with a majority White recruitment reported encountering distrust from people from URP backgrounds more frequently than researchers involved in studies with a majority URP recruitment. This distrust could stem from recruitment practices, since studies that aimed to recruit specific URP groups were more likely to involve patients, community-based agencies, public health agencies and advocacy groups in the research process. This is supported by prior studies that suggest excluding community representatives in the research process leads to misconceptions, distrust, and barriers to participation \u003csup\u003e\u003cspan citationid=\"CR54\" class=\"CitationRef\"\u003e54\u003c/span\u003e\u003c/sup\u003e. On the other hand, this could represent bias that some researchers have that URP individuals are less trusting than others, particularly given how challenging researchers find recruiting these priority populations and how discouraged they report feeling about these efforts. Continuing to uncover participant-reported barriers and working with community partners to address them will be critical in future efforts.\u003c/p\u003e \u003cp\u003eThe study demonstrates shortages of staff and resources as key recruitment barriers, a finding that aligns with results from prior studies in other areas of the biomedical sciences \u003csup\u003e\u003cspan citationid=\"CR30\" class=\"CitationRef\"\u003e30\u003c/span\u003e,\u003cspan citationid=\"CR51\" class=\"CitationRef\"\u003e51\u003c/span\u003e\u003c/sup\u003e. The combination of viewing diverse individuals as more difficult and more costly to recruit may discourage researchers from prioritizing diverse populations. It will be important to dispel such misconceptions, increase the diverse research workforce that has had more success recruiting URPs, and adequately fund recruitment, to allow for stipends and help with transportation and childcare, for example, known facilitators for research participation in URPs \u003csup\u003e\u003cspan additionalcitationids=\"CR55 CR56 CR57\" citationid=\"CR54\" class=\"CitationRef\"\u003e54\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR58\" class=\"CitationRef\"\u003e58\u003c/span\u003e\u003c/sup\u003e. And, as most recognized that the recruiters\u0026rsquo; ability to engage participants, and their personal knowledge of the target population(s) is critical to successful recruitment of diverse populations, it is important to help researchers hire, train and retain appropriate recruiters. These individuals establish relationships and trust with community agencies and individual community members/patients (i.e., \u0026ldquo;invisible work\u0026rdquo;), akin to that observed in other contexts \u003csup\u003e\u003cspan citationid=\"CR59\" class=\"CitationRef\"\u003e59\u003c/span\u003e\u003c/sup\u003e. Furthermore, employment of diverse recruiters can not only facilitate outreach to target populations but can also promote early career opportunities and spark an interest in research among individuals from under-represented backgrounds, both factors that have been identified as important in supporting the career development of minority researchers \u003csup\u003e\u003cspan citationid=\"CR26\" class=\"CitationRef\"\u003e26\u003c/span\u003e,\u003cspan citationid=\"CR49\" class=\"CitationRef\"\u003e49\u003c/span\u003e\u003c/sup\u003e.\u003c/p\u003e \u003cp\u003eFinally, while nearly all respondents agreed that funding agencies should monitor recruitment efforts and encourage the implementation of mitigation plans when discrepancies arise between recruitment targets and actual enrollment, only half believed that federal agencies should hold researchers accountable. Furthermore, fewer than half reported tracking recruitment of URPs for purposes other than NIH reporting. Until the research community demonstrates greater commitment to tracking, monitoring, and prioritizing the recruitment of URPs, continued or expanded NIH oversight may be warranted. This recommendation aligns with recent guidance from scientific journals\u003csup\u003e\u003cspan citationid=\"CR50\" class=\"CitationRef\"\u003e50\u003c/span\u003e\u003c/sup\u003e and regulatory agencies \u003csup\u003e\u003cspan citationid=\"CR60\" class=\"CitationRef\"\u003e60\u003c/span\u003e\u003c/sup\u003e, which emphasize stringent practices for promoting equity, diversity, and inclusion throughout the research process.\u003c/p\u003e \u003cp\u003eLimitations\u003c/p\u003e \u003cp\u003eOur study sample included relatively few researchers from minority backgrounds and was significantly skewed toward individuals who identified as White, male, and full professors with more than 20 years of research experience. In addition, ascertainment bias may have influenced our findings, as individuals with a strong interest in and prioritization of diversity and inclusion in research may have been more likely to respond to the survey. A larger and more diverse sample size would have enabled more nuanced analyses and increased the generalizability of our findings. Additionally, limited follow-up assessments across studies resulted in limited retention data. Finally, our study primarily reflects the perspectives of established researchers in 2019, which may not fully capture the views or evolving priorities of younger researchers who are potentially more attuned to the importance of diversity and inclusion in research.\u003c/p\u003e"},{"header":"Conclusion","content":"\u003cp\u003eThe inclusion of diverse populations in genomics research is essential to reducing health disparities, yet recruitment remains inadequate. Our survey highlights that while researchers are generally aware of strategies to improve diversity, implementation is limited by infrastructure and funding challenges. Key steps to enhance minority participation include extending recruitment hours, engaging community-based agencies, patients and advocates, and offering higher financial incentives for participants. Diversifying the research workforce can further improve outcomes by fostering trust and engagement with underrepresented groups. Achieving meaningful progress will require researchers, funding agencies, and community stakeholders to forge strong partnerships, share accountability, and embed measurable diversity goals at the core of these efforts.\u003c/p\u003e"},{"header":"Declarations","content":"\u003cp\u003e\u003cu\u003eAuthor contributions\u003c/u\u003e\u003c/p\u003e\n\u003cp\u003ePT drafted the manuscript and conducted the statistical analysis and interpretation. TS contributed to the conceptualization and design of the study, participated in data collection and study execution, and reviewed and edited the manuscript. MRa contributed to the conceptualization and design of the study, participated in data collection and study execution, and reviewed and edited the manuscript. MRo contributed to the conceptualization and design of the study and reviewed and edited the manuscript. TL assisted in drafting the manuscript. EM contributed to the conceptualization and design of the study and reviewed and edited the manuscript. CH and NV contributed to the conceptualization and design of the study, participated in data collection and study execution, and revised the manuscript for critical and important intellectual content. All authors read and approved the final manuscript.\u003c/p\u003e\n\u003cp\u003e\u0026nbsp;\u003cu\u003eAcknowledgements\u003c/u\u003e\u003c/p\u003e\n\u003cp\u003eWe extend our gratitude to all the investigators who participated in the survey and generously shared their valuable insights and experiences.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u003cu\u003eCompeting interests\u0026nbsp;\u003c/u\u003e\u003c/p\u003e\n\u003cp\u003eThe authors declare no competing interests.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u003cu\u003eMaterials and correspondence\u003c/u\u003e\u003c/p\u003e\n\u003cp\u003ePilar Trelles ([email protected]) \u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\n\u003cli\u003eGoodman, D. M., Lynm, C. \u0026amp; Livingston, E. H. Genomic medicine. JAMA - Journal of the American Medical Association Preprint at https://doi.org/10.1001/jama.2013.1927 (2013).\u003c/li\u003e\n\u003cli\u003eDe Rubeis, S. et al. 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Using Community-Based Participatory Research to Address Health Disparities. Health Promot Pract (2006) doi:10.1177/1524839906289376.\u003c/li\u003e\n\u003cli\u003eViswanathan, M. et al. Community-based participatory research: assessing the evidence. Evid Rep Technol Assess (Summ) (2004) doi:10.1073/pnas.1210273109.\u003c/li\u003e\n\u003cli\u003eHacker, K. Community-Based Participatory Research. 1\u0026ndash;3 (2013) doi:10.4135/9781452244181 LK - https://slc.on.worldcat.org/oclc/7350926916.\u003c/li\u003e\n\u003cli\u003eHarris, D. A., Pensa, M. A., Redlich, C. A., Pisani, M. A. \u0026amp; Rosenthal, M. S. Community-based participatory research is needed to address pulmonary health disparities. Ann Am Thorac Soc 13, 1231\u0026ndash;1238 (2016).\u003c/li\u003e\n\u003cli\u003eGitik, M., Bingaman, L. A., Rowland, L. M. \u0026amp; Horvath Marques, A. The NIMH supports more comprehensive and inclusive genomic studies in psychiatry. 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Science (1979) 333, 1015\u0026ndash;1019 (2011).\u003c/li\u003e\n\u003cli\u003eDewidar, O., Elmestekawy, N. \u0026amp; Welch, V. Improving equity, diversity, and inclusion in academia. Res Integr Peer Rev 7, (2022).\u003c/li\u003e\n\u003cli\u003eGeorge, S., Duran, N. \u0026amp; Norris, K. A Systematic Review of Barriers and Facilitators to Minority Research Participation Among African Americans, Latinos, Asian Americans, and Pacific Islanders. Am J Public Health 104, e16\u0026ndash;e31 (2014).\u003c/li\u003e\n\u003cli\u003eHorowitz, C. R. et al. Successful recruitment and retention of diverse participants in a genomics clinical trial: a good invitation to a great party. GENETICS in MEDICINE 21, 2364\u0026ndash;2370 (2019).\u003c/li\u003e\n\u003cli\u003eRamos, M. A. et al. Employing effective recruitment and retention strategies to engage a diverse pediatric population in genomics research. The American Journal of Human Genetics (2024) doi:10.1016/j.ajhg.2024.10.015.\u003c/li\u003e\n\u003cli\u003eCalder\u0026oacute;n, J. L. et al. An ethno-medical perspective on research participation: a qualitative pilot study. MedGenMed 8, (2006).\u003c/li\u003e\n\u003cli\u003eChao, S. Z. et al. Recruitment of Chinese American elders into dementia research: The UCSF ADRC experience. Gerontologist 51, (2011).\u003c/li\u003e\n\u003cli\u003eGiarelli, E. et al. Research participation among asian american women at risk for cervical cancer: Exploratory pilot of barriers and enhancers. J Immigr Minor Health 13, 1055\u0026ndash;1068 (2011).\u003c/li\u003e\n\u003cli\u003eLuisa Z\u0026uacute;\u0026ntilde;iga, M., Blanco, E., Mart\u0026iacute;nez, P., Strathdee, S. A. \u0026amp; Gifford, A. L. Perceptions of barriers and facilitators to participation in clinical trials in HIV-positive Latinas: A pilot study. J Womens Health 16, 1322\u0026ndash;1330 (2007).\u003c/li\u003e\n\u003cli\u003eRivera-Goba, M. V. et al. Exploring Decision-Making of HIV-Infected Hispanics and African Americans Participating in Clinical Trials. Journal of the Association of Nurses in AIDS Care 22, 295\u0026ndash;306 (2011).\u003c/li\u003e\n\u003cli\u003eSocial Sciences Feminist Network Research Interest Group, U. of O. The Burden of Invisible Work in Academia. Humboldt J Soc Relat 39, 228\u0026ndash;245 (2017).\u003c/li\u003e\n\u003cli\u003eU.S. Food and Drug Administration. Diversity Action Plans to Improve Enrollment of Participants from Underrepresented Populations in Clinical Studies Guidance for Industry DRAFT GUIDANCE. https://www.fda.gov/vaccines-blood-biologics/guidance- (2024).\u003c/li\u003e\n\u003c/ol\u003e"},{"header":"Tables","content":"\u003cp\u003eTables are available in the Supplementary Files section.\u003c/p\u003e\n"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":true,"hideJournal":true,"highlight":"","institution":"","isAcceptedByJournal":false,"isAuthorSuppliedPdf":false,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":false,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"researchsquare","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":true,"externalIdentity":"","sideBox":"","snPcode":"","submissionUrl":"/submission","title":"Research Square","twitterHandle":"researchsquare","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"","reportingPortfolio":"","inReviewEnabled":false,"inReviewRevisionsEnabled":true},"keywords":"Genomic research, Survey, Investigator, Health disparities, Underrepresented populations, Community engagement, Recruitment strategies","lastPublishedDoi":"10.21203/rs.3.rs-5551656/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-5551656/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003eInclusion of diverse populations in genomic research is crucial for reducing health disparities, yet recruitment remains inadequate. This study surveyed 91 NIH-funded investigators on their practices and perspectives regarding the recruitment and retention of underrepresented populations (URP) in genomic research. Most respondents were White, male, full professors conducting studies in the U.S., while researchers recruiting primarily Hispanic/Latino or Black/African American participants were more likely to be younger, female, and belong to a URP themselves. Recruitment goals were more frequently met for White participants than for URPs. Despite understanding the challenges of URP recruitment, investigators found meeting targets \"very or extremely difficult.\" While no significant differences in recruitment practices were observed between those focusing on URPs and those recruiting primarily White participants, descriptive differences emerged. Most respondents agreed that the NIH should monitor URP recruitment but felt researchers shouldn’t be penalized for failing to meet targets. The findings suggest that while NIH-funded researchers are aware of strategies to improve URP recruitment, few routinely implement them, citing inadequate infrastructure and funding. Systemic changes at the individual, institutional, and policy levels are needed to address these barriers.\u003c/p\u003e","manuscriptTitle":"Inclusion of Diverse Populations in Genomics Research: A Survey of Investigators","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2025-07-03 09:28:29","doi":"10.21203/rs.3.rs-5551656/v1","editorialEvents":[{"type":"communityComments","content":0}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"researchsquare","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":true,"externalIdentity":"","sideBox":"","snPcode":"","submissionUrl":"/submission","title":"Research Square","twitterHandle":"researchsquare","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"","reportingPortfolio":"","inReviewEnabled":false,"inReviewRevisionsEnabled":true}}],"origin":"","ownerIdentity":"1ad81476-19a5-4586-856f-c5f7c4a274c7","owner":[],"postedDate":"July 3rd, 2025","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"posted","subjectAreas":[{"id":42917154,"name":"Health sciences/Medical research/Genetics research"},{"id":42917155,"name":"Biological sciences/Genetics/Genomics/Personalized medicine"},{"id":42917156,"name":"Scientific community and society/Scientific community/Research management"}],"tags":[],"updatedAt":"2025-07-03T09:28:29+00:00","versionOfRecord":[],"versionCreatedAt":"2025-07-03 09:28:29","video":"","vorDoi":"","vorDoiUrl":"","workflowStages":[]},"version":"v1","identity":"rs-5551656","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-5551656","identity":"rs-5551656","version":["v1"]},"buildId":"XKTyCvWXoU3ODBz1xrDgd","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}