Summary
Underrepresentation in clinical genomics research limits the generalizability of findings and the benefits of scientific discoveries. We describe the impact of patient-centered, data-driven recruitment and retention strategies in a pediatric genome sequencing study. We collaborated with a stakeholder board, conducted formative research with adults whose children had undergone genomic testing, and piloted and revised study approaches and materials. Our approaches included racially, ethnically, and linguistically congruent study staff, relational interactions, study visit flexibility, and data-informed quality improvement. Of 1,656 eligible children, only 6.5% declined. Their parents/legal guardians were 76.9% non-White, 65.6% had public health insurance for the child, 49.9% lived below the federal poverty level, and 52.8% resided in a medically underserved area. Among those enrolled, 87.3% completed all study procedures. There were no sociodemographic differences between those who enrolled and declined or between those retained and lost to follow-up. We outline stakeholder-engaged approaches that may have led to the successful enrollment and retention of diverse families. These approaches may inform future research initiatives aiming to engage and retain underrepresented populations in genomics medicine research.
Keywords: pediatrics, genomics, genome sequencing, diversity, recruitment, retention
Novel approaches are needed for the enhancement of sociodemographic and ancestral diversity in genomics research. We describe an integrated set of community-engaged, data-driven approaches resulting in the successful recruitment and retention of children who are non-White and from medically underserved areas in genomic sequencing studies and provide recommendations for their broader adoption.
Introduction
Genomic discoveries cannot sufficiently benefit sociodemographically and ancestrally diverse individuals unless diverse populations are included in research.1,2,3,4 Recruitment in research of all types is a persistent challenge: half to two-thirds of clinical trials enrolling adult and pediatric participants in the US fail to meet the target number of participants,5 with a large majority failing to do so within their specified time periods.6 Recruitment of pediatric patients can be especially difficult, regardless of the area of research, as this population has unique complexities and human subjects protections: parental involvement and family decision making, adaptations to meet children’s physical, cognitive, and emotional development, and complying with the special ethical and regulatory safeguards for children.7 Barriers to participation for health disparity populations in pediatric clinical trials include a lack of understanding about and trust in the research process and logistical challenges (e.g., language barriers, financial constraints, transportation barriers, and time/opportunity costs for parents/caregivers).8,9,10,11,12
Difficulty recruiting and retaining underrepresented groups in genomic research is an area of significant concern and concerted effort.13 Genomics research carries its own set of challenges for recruiting participants, particularly from historically excluded or exploited communities. Member of groups that have been harmed by research are understandably reluctant to participate,13 and many individuals and families have concerns about privacy/confidentiality and question whether genomic information will be used against them by health care insurers, government, or law enforcement.14,15,16 Challenges for recruitment and retention can also be related to how studies are designed, such as the absence of tailoring or personalization of study procedures, processes, and materials; inadequate compensation; lack of flexibility to meet the needs of busy families; and challenges around the cultural and linguistic competence and sensitivity of study personnel.17,18,19
We have been developing and refining strategies to effectively engage racially and ethnically diverse adult populations in genomics research over many years. These approaches center the experiences, perspectives, needs, and interests of those who may stand to benefit most from the research. The NYCKidSeq research program, part of the National Human Genome Research Institute (NHGRI)-funded Clinical Sequencing Evidence-Generating Research (CSER) Consortium,20 provided an opportunity for our team to adapt these tailored recruitment and retention strategies for clinical genomics research in pediatric populations.21,22,23 The NYCKidSeq research program was comprised of a randomized clinical trial20 and a remote pilot study,24 which began in 2020 as we pivoted to virtual recruitment during the early months of the COVID-19 pandemic. Our goal was to meet or exceed recruitment and retention targets while optimizing participants’ experience with the research and to refine a set of flexible, scalable strategies for the engagement of diverse pediatric populations in genomics research. We met our enrollment goals and exceeded retention targets, confirming the potential for our tailored approaches to support effective enrollment and retention of pediatric populations in clinical genomics studies. Here, we describe these patient-centered strategies, discuss their generalizability, and advocate for increasing emphasis and focus on the inclusion in genomic studies of pediatric populations that have been underrepresented in clinical genomics studies.
Overview of the NYCKidSeq research program
We designed a multi-institutional, clinical genomics research project to evaluate strategies to enhance the communication of genomic information to parents and assess the utility of advanced genome sequencing technology for improving diagnostic rates in a racially and ethnically diverse pediatric population in New York City.20,24 As a stipulation of funding, we sought to enroll a minimum of 60% of parents/legal guardians from racial and ethnic minority populations, historically medically underserved populations (US Health Resources and Services Administration [HRSA] definition), and populations who experience poorer medical outcomes.25 Participants were recruited primarily from East and Central Harlem and the South and East Bronx, neighborhoods with large numbers of Black and Hispanic/Latino residents and whose primary language is other than English.26 We enrolled children ≤21 years old being medically treated at a participating institution for an undiagnosed, suspected genetic cause of their neurologic, immunologic, or cardiac disorders.20,27,28,29,30 Children received genome sequencing and targeted gene panels and were randomized to receive results via genetic counselors through different digital and telehealth mechanisms, compared with standard-of-care genetic counseling in English or Spanish.24,31,32 The NYCKidSeq research program was approved by the Icahn School of Medicine at Mount Sinai and the Albert Einstein College of Medicine Institutional Review Boards.
Referrals and pre-test genetic counseling
Clinical providers (pediatric neurologists, immunologists, and cardiologists) from participating institutions referred patients to the study. Clinical research coordinators (CRCs) and genetic counselors pre-screened children for eligibility and obtained informed consent of parents/legal guardians on behalf of the children if they were under the age of 18 or if they were considered incapacitated. Adult children with legal capacity (18–21) consented independently. CRCs administered a baseline survey, including demographics,33,34 and families had a pre-test genetic counseling session with a genetic counselor who collected relevant personal and family health history, obtained consent for genetic sequencing, and obtained a blood or saliva sample from the child for sequencing. Genetic counselors returned the results to both the family and the child’s referring provider and referred participants to the appropriate clinics for any recommended follow-up care. At the end of the return-of-results visit (usually 3–6 months after enrollment) and at the end of the study (approximately 6 months after the return of results), CRCs surveyed parents about their experience receiving the results. Surveys were 30–40 min in duration, and participants received $80 in gift cards for completing the three study visits.
Tailored recruitment and retention strategies
Our goal was to apply and further refine stakeholder-engaged, patient-centered, data-driven approaches employed in other genomics studies21,22,35 to recruit and retain diverse, medically underserved parents/legal guardians of seriously ill children (Table 1) in a clinical genome sequencing study. In the context of our study, stakeholder engagement refers to strategies and approaches to involve those who have in interest in, or will be impacted by, the outcomes of the research (e.g., patients, caregivers, advocates, clinical providers, health systems leaders) in aspects of study design and processes.22,23,36,37,38,39,40 Stakeholder-engaged, patient-centered approaches should result in strategies that incorporate patients’ needs (e.g., linguistically, culturally, and literacy-appropriate study materials), concerns (e.g., addressing the “earned skepticism” around research and confidentiality), goals (e.g., receiving meaningfully information about their child’s condition), and perspectives (e.g., views related to prior experiences of genetic testing).41
Table 1.
Characteristics: Enrolled vs. declined and lost to follow-up vs. completed study
| Participant/decliner characteristic, N (%) | Enrolled (N = 1,058) | Declined (N = 109) | p value | Lost to follow-up (N = 133) | Completed (N = 925) | p value |
|---|---|---|---|---|---|---|
| Age of parent at baseline (mean, SD, range) | 41.1 (9.1)20.9, 81.5 | 40.5 (9.0)22.8, 63.6 | 0.844 | 41.1 (8.8)23.6, 81.5 | 41.1 (9.1)20.9, 71.7 | 0.933 |
| Relationship to child | – | – | 0.584 | – | – | 0.816 |
| Mother | 910 (86.0) | 56 (88.9) | – | 113 (85.0) | 797 (86.2) | – |
| Father | 101 (9.6) | 6 (9.5) | – | 13 (9.8) | 88 (9.5) | – |
| Legal Guardian | 47 (4.4) | 1 (1.6) | – | 7 (5.3) | 40 (4.3) | – |
| Self-reported race and ethnicity | – | – | 0.720 | – | – | 0.071 |
| American Indian, Native American, or Alaska Native | 4 (0.4) | 0 (0.0) | – | 1 (0.8) | 3 (0.3) | – |
| Asian | 60 (5.9) | 2 (4.6) | – | 8 (6.4) | 52 (5.9) | – |
| Black or African American | 164 (16.2) | 8 (18.2) | – | 27 (21.4) | 137 (15.5) | – |
| Hispanic/Latino(a) | 493 (48.8) | 22 (50.0) | – | 56 (44.4) | 436 (49.3) | – |
| Middle Eastern or North African/Mediterranean | 13 (1.3) | 1 (2.3) | – | 3 (2.4) | 10 (1.2) | – |
| White or European American | 233 (23.1) | 7 (15.9) | – | 21 (16.7) | 212 (24.0) | – |
| More than one population | 16 (1.6) | 1 (2.3) | – | 4 (3.2) | 13 (1.5) | – |
| Other | 9 (0.9) | 3 (6.8) | – | 2 (1.6) | 7 (0.8) | – |
| Prefer not to answer | 13 (1.3) | 0 (0.0) | – | 3 (2.4) | 10 (1.1) | – |
| Unknown/none of these fully describe my child | 6 (0.6) | 3 (6.8) | – | 1 (0.8) | 5 (0.6) | – |
| Speaks another language besides English | – | – | 0.930 | – | – | 0.272 |
| Yes | 576 (54.5) | 20 (50.0) | – | 98 (73.7) | 721 (77.9) | – |
| No | 480 (45.4) | 17 (42.5) | – | 35 (26.3) | 204 (22.1) | – |
| Prefer not to answer | 1 (0.1) | 3 (7.5) | – | – | – | – |
| Other language | 9 (1.6) | 1 (5.0) | – | – | – | – |
| Education level | – | – | 0.715 | – | – | 0.405 |
| <High school graduate (HS grad) | 196 (18.5) | 6 (15.0) | – | – | – | – |
| HS grad, GED, technical or associate’s degree | 475 (44.9) | 16 (40.0) | – | 27 (20.3) | 169 (18.4) | – |
| College graduate | 210 (19.9) | 7 (17.5) | – | 59 (44.4) | 416 (45.2) | – |
| >College graduate | 173 (16.4) | 3 (7.5) | – | 31 (23.3) | 179 (19.4) | – |
| Prefer not to answer/don’t know | 4 (0.4) | 8 (20.0) | – | 16 (12.0) | 157 (17.0) | – |
| Insurance type of child | – | – | 0.239 | – | – | 0.151 |
| Public (Medicaid/Medicare) | 694 (65.6) | 16 (45.7) | – | 94 (70.7) | 600 (64.8) | – |
| Private | 363 (34.3) | 8 (22.7) | – | 38 (28.5) | 325 (35.2) | – |
| None | 1 (0.1) | 3 (8.6) | – | 1 (0.8) | 0 (0.0) | – |
| Prefer not to answer | 0 (0.0) | 8 (22.9) | – | 0 | 0 | – |
| MUAP (residence in a HRSA defined “medically underserved area”) | – | – | N/A | – | – | 0.246 |
| No | 499 (47.2) | 1 (100.0) | – | 57 (42.5) | 443 (47.9) | – |
| Yes | 559 (52.8) | 0 (0.0) | – | 77 (57.5) | 482 (52.1) | – |
| 200% below federal poverty level | – | – | 0.665 | – | – | 0.299 |
| No | 450 (50.1) | 11 (55.0) | – | 37 (27.8) | 413 (44.6) | – |
| Yes | 448 (49.9) | 9 (45.0) | – | 46 (34.6) | 402 (43.5) | – |
| Self-reported previous genetic testing experience | – | – | N/A | – | – | 0.002 |
| No | – | – | – | 97 (72.9) | 543 (58.7) | – |
| Yes | – | – | – | 35 (26.3) | 371 (40.1) | – |
| Don’t know | – | – | – | 1 (0.8) | 11 (1.2) | – |
| Interpreter present at post-test | – | – | N/A | – | – | 0.374 |
| No | – | – | – | 82 (82.8) | 731 (79.0) | – |
| Yes | – | – | – | 17 (17.2) | 194 (20.9) | – |
Engaging a stakeholder board
We established a genomics research stakeholder board more than a decade ago23 and have engaged the board continuously since that time. The board, which meets quarterly, is comprised of patients, parents, advocates, clinical providers, study coordinators, and health system leaders, many of whom mirror the demographics of our patient population. The board brings a wide range of experience, expertise, and perspectives to our collaboration and currently includes members who self-identify as Black, Hispanic/Latino, Native American, and White, who have participated in previous genomic implementation studies, and who have children with genetic health conditions. Over this time, the board has guided numerous local, regional, and national genomics projects that aim to advance genomics equity.42,43,44 The board guided numerous aspects of the NYCKidSeq studies: adapting the consent forms to ensure legibility (i.e., written in plain language), informing the content, imagery and graphics of the intervention, developing patient-centered strategies to support successful recruitment/retention (e.g., ways to approach and communicate with families and clinical providers, allowing parents/legal guardians to bring children to study visits when they did not have childcare, and developing mail, text, and phone scripts to maintain engagement), and writing up study findings, including this manuscript. The board reviewed data on study progress and worked with investigators to uncover and address recruitment and retention challenges as they arose. Our board is based on a hub-and-spoke organization model: members (hubs) can reach out to others in their networks (spokes) to gather feedback that will further inform approaches. For example, clinical providers on the board asked their colleagues how the NYCKidSeq study could best work in their settings, and CRCs on the board met with CRCs on the NYCKidSeq team to share strategies, review difficulties, and celebrate successes.
Conducting formative research and pilot testing study materials
Prior to recruitment, we conducted semi-structured interviews with parents/legal guardians whose self-reported race and ethnicity aligned with the demographics of the patients to be recruited for the studies and whose children had undergone genomic testing for a suspected genetic disorder.45,46 We explored their views on genomic testing and their expectations of results, the return of result process and sequelae, and their emotional responses. Interview results informed the development of our study materials, specifically consent forms and participant surveys. We then piloted, refined, and finalized these materials with the stakeholder board. Refinement of the materials included major revisions to consent forms (shortening the form, lowering literacy levels, enhancing clarity), which subsequently led our board to help the primary research institution improve the boilerplate language for all consent forms in a similar way. Other changes included shortening the surveys to minimize burden, building trainings and procedures for CRCs centered on optimizing participant experience, and using plain language in all patient-facing materials, where possible.
Deploying racially, ethnically, and linguistically congruent study staff
Our CRCs spoke English and Spanish and reflected the demographics (e.g., self-reported race and ethnicity) of the participants. These characteristics were especially important, as the genetic counselors in the study were predominantly White and did not speak Spanish, similar to the demographics of genetic counseling professionals generally.47 We trained CRCs in all research operations, emphasizing empathy, respect, and the use of procedures proven effective in recruiting individuals from marginalized populations.22,48,49 Seasoned study personnel provided feedback in mock study visits. CRCs met together weekly to problem solve, support each other, and expand their expertise.
Involving providers
Prior to the start of recruitment, genetic counselors presented the goals of the study to clinical providers and asked for their suggestions about the best methods to recruit based on their understanding of their patients, their practice, and strategies that would minimize any disruption of clinical workflow. We identified a “provider champion” at each site to work with the CRCs, identify best recruitment strategies, and build trust with the clinical team, emphasizing that we were conducting research with them, not on them. We let them know that we could not succeed without understanding their needs and interests and benefitting from their expertise. Study staff tailored their approaches based on providers’ preferences to help ensure maximum outreach to eligible patients. Providers gave CRCs a list of potentially eligible patients or permitted them to pre-screen the clinic schedule to identify potentially eligible patients. CRCs were regularly present in some clinics to collaborate in real time on recruitment efforts and allow for “warm handoffs” (i.e., direct introduction of potential participants by providers to the CRCs). We also developed a smart phrase in the electronic health record, which allowed providers to refer patients. To minimize the intrusion of research processes in busy clinical practices, study staff were flexible in working around the clinic staff’s duties and trained in phlebotomy for sample collection. Study personnel thanked clinical staff for their time and assistance on the study by sending holiday cards and making other small gestures of appreciation.
Employing a relational interactions framework
A relational interactions framework and input from the stakeholder board guided CRC’s patient-centered work, specifically demonstrating empathy, respect, and trust, developing caring relationships, and ensuring that families felt understood and were treated as capable.50 Trained CRCs recruited parents/legal guardians at designated clinics so that providers and staff would become familiar with them and, by extension, with the study. We asked clinical providers to introduce the study to potentially eligible families before referring them to the CRCs. To the greatest extent possible, we maintained study continuity, with the same CRC conducting all subsequent outreach, scheduling, and follow-up visits to establish trust and rapport, minimize confusion, and sustain contact. CRCs made notes in study records about personal anecdotes that families had shared and used these as points of connection in future interactions. When families reported that they were going through a particularly stressful period, study staff listened with empathy and offered to conduct study visits at later times. CRCs engaged in warm and direct interactions with the children and sent birthday and holiday cards to enrolled families to help keep them connected to the study. We anticipated that our strategies, which demonstrated care and concern for participants, would result in a high rate of retention in the study and build a cadre of patients who have had a positive experience in research and might therefore be willing to participate in future studies, if invited to do so.
Incorporating flexibility in study processes
CRCs were regularly present during standard clinic hours to engage with potentially eligible parents/legal guardians, answer study-related questions, and represent a professional and approachable first point of contact for the study. They followed up by phone with potentially eligible and enrolled parents/legal guardians during days, evenings, and weekends and scheduled visits at convenient times or on the same day as their child’s clinic appointment. Stakeholder board members had suggested that childcare might be a barrier and recommended that parents be allowed to bring their children to the clinic. When this proved to be the case, CRCs invited parents/legal guardians to bring their children with them and provided games and activities while the parents/legal guardians completed study procedures. Prior to clinic visits, CRCs sent reminder letters, emails, or texts based on parents/legal guardians’ preferences for communication (i.e., both the method of communication and language). When CRCs could not reach parents/legal guardians, they identified upcoming appointments and met parents/legal guardians at the clinic while they were already on site.
Applying data-driven quality improvement strategies
A team science approach—collaboration and effective communication among study team members, including stakeholder board members, with varied disciplines, professional training, and roles—was key in the development of effective recruitment and retention strategies.51 The study program manager met weekly with the CRCs, genetic counselors, and study investigators to present recruitment and retention data to review granular data stratified by site and by CRC, including the number enrolled per week vs. the weekly goal and follow-up visits scheduled vs. completed. Data, team input, CRC experiences and ideas, and open discussions of challenges and successes drove quality improvement efforts. Study team members helped each other think through new ideas and strategies and shared data with the stakeholder board, who helped us solve problems and pivot to remote engagement.
High enrollment, retention, and completion rates
CRCs and genetic counselors pre-screened 1,847 children, of whom 1,656 (89.7%) were eligible, 1,084 (65.5%) provided informed consent and completed the baseline survey and a pre-test visit with a genetic counselor, and 1,059/1,656 (63.9%) had a sample collected and were considered enrolled. An exceedingly high number of enrolled participants completed genetic testing (99.5%; 1,054/1,059). Of those tested, 97.2% (1,024/1,054) completed a results disclosure visit with a genetic counselor approximately 3 months after enrollment, 95.6% (1,008/1,054) completed a survey following the results disclosure visit, and 87.8% (925/1,054) completed a final survey about 6 months after disclosure, thus completing the study.
Of those who were eligible and approached but did not enroll, only 6.5% (109/1,565) declined participation. When recruitment ended, CRCs were still engaging with the remaining 27.9% (463) of potential participants who were undecided, had not responded to outreach attempts, or were “on hold” for recruitment because insufficient time had elapsed since prior genetic counseling.
Participant demographics
As shown in Table 1, the average age of enrolled parents/legal guardians was 41.1 years; 60.5% had a child enrolled in the study who had not undergone previous genetic testing. Similar to pediatric research studies in general,52 the majority of parents/legal guardians completing the survey were mothers (86.0%). Most (75.1%) were non-White, had not earned a college degree (66%), were receiving public health insurance (65.6%), and were married or had a partner (65.9%). Nearly half (43.8%) were from households with incomes below the federal poverty level, and 52.8% resided in an HRSA-defined medically underserved area. There were no sociodemographic differences between those who enrolled and those who declined.
Reasons for declining to participate
We saw an unusually low rate of decline and a great variability of reasons, with a large number (41.3%) giving no reason. Reasons for declining34 among the 109 who declined included lack of interest in participating in genetics research (18.8%) or research in general (16.4%), belief that testing is unnecessary (17.2%), lack of time (11.7%), concerns about privacy/discrimination (8.6%), not wanting to provide a biological sample (4.7%), or being overwhelmed by their own or their child’s health problems (4.7%). Other reasons (9.4%) included wishing to pursue clinical genetic testing not conducted as part of a research study, not believing their child’s condition might have a genetic cause, wanting the child to reach adulthood to make the decision on their own, and not wanting to receive potentially uncertain results or results with conditions for which there are no treatments. Given that more than half of those who declined expressed a lack of interest in research, considered genetic testing to be unnecessary (as opposed to only 9% who cited reasons related to privacy/confidentiality), or gave no reason, it might be interesting in future research to explore how recruitment strategies could be further refined to address these issues and clarify for patients the benefits of genomics research.
As with participants who enrolled vs. those who declined, there were no sociodemographic differences between participants who were and participants who were not retained in the study (Table 1). However, parents/legal guardians whose children had prior genetic testing were significantly more likely to remain in the study compared to those with children who had no prior genetic testing (p = 0.002), which may suggest that families with a favorable (i.e., respectful, meaningful, effective) prior experience with genetic testing were more inclined to participate.53,54 Those who received positive genetic tests were slightly, but not significantly (p = 0.056), more likely to remain in the study compared to those who received uncertain or negative test results.
Meeting recruitment and retention targets
Despite recruiting children with serious neurologic, immunologic, and cardiac conditions during a global pandemic and the need to obtain a biological sample (which can be challenging with young and/or chronically ill children), only 6.5% of eligible parents/legal guardians actively declined, and we retained 87.3% of those enrolled. The decliner rate was lower, and the retention rate exceeded typical recruitment outcomes in pediatric clinical trials,55 and we reached our targeted enrollment for the study. The type of research we conducted may have been more amenable to recruitment than other types of studies, as it involved minimal risk, and the target population was families with an ill child who were seeking answers about a potential cause or a diagnosis. Nonetheless, we attribute our success, at least in part, to reflecting and addressing the distinct needs of patients and the social context of the target population. While we did not assess the impact of different recruitment and retention strategies, our approach overall was clearly effective. We believe that the low rates of decline and loss to follow-up and lack of disparities in recruitment and retention rates reflect our robust stakeholder-engaged approach to recruitment and retention. While parents/legal guardians could perhaps have been motivated to enroll by the opportunity to have genome sequencing for their children at no cost to them rather than by our recruitment and retention strategies, this would not explain our high completion rates.
An integrated approach to meet recruitment and retention goals
Based on our previous experience engaging diverse adult populations in clinical genomics research, we designed and employed strategies to motivate and sustain the participation of parents/legal guardians of pediatric populations and actively and meaningfully engage and involve clinical providers and staff (Figure 1). We call our integrated approach “a good invitation to a great party.”22 The “invitation,” crafted with the help of our stakeholder board and based on formative research with individuals representative of the target population, is the design of participant study materials created expressly so that people from diverse backgrounds will recognize that the study is designed for them (i.e., a personal invitation). The “party” is what participants experience once they join the study: relationships built on a foundation of respect, empathy, and support for their distinct needs and preferences; racially, ethnically, and linguistically congruent study staff; a focus on building trust with parents/legal guardians; flexibility in logistical arrangements (e.g., visit scheduling, communication mechanisms, site locations); integration of CRCs into clinic settings; and collection and use of extensive and granular data to track progress and address challenges with our team and the board. Building trusting relationships with referring clinical providers is also a foundational component of our successful recruitment efforts. Our CRCs provided a single and sustained point of contact for participants and served as a bridge between the study team and other patient-facing staff. Given that genetic counselors in the US, (90% of whom are White)47 do not share race, ethnicity, or language with many of the enrolled families, having CRCs with diverse backgrounds is especially important.
Figure 1.
Effective strategies for recruiting and retaining diverse populations in research
This approach, developed in collaboration with our board, underscores the value and impact of stakeholder engagement in the design and conduct of research to ensure successful recruitment and retention of underrepresented populations. Similar approaches have been and should continue to be applied to genomic research more broadly.23,36,56 At the same time, it could be useful to investigate the effectiveness of distinct aspects or components of these stakeholder-engaged, patient-centered approaches (e.g., randomizing patients to different recruitment or retention strategies; comparing these strategies in different settings) to further customize and optimize the overall approach.
The recruitment and retention strategies employed in NYCKidSeq are flexible and scalable. Although our research project was conducted across multiple sites, these strategies can be scaled for single-site studies, as our approach centers on deep engagement with individual clinic teams. Our target population was the parents/legal guardians of very ill children with conditions of suspected genetic etiology. Nonetheless, our approach to formative work (i.e., engaging parents who mirror the study population in demographics and who had previously participated in clinical genetic testing) can be adapted. Convening such a group may prove more or less difficult, depending on the setting and the nature of the research. Modifications might include broadening the criteria to engage parents with interest in the particular condition or research, rather than personal experience, or engaging parents with prior experience with another type of research. Our relational interactions framework (building trust, creating a welcoming environment, respecting the lived experience and knowledge of participants) is not only applicable to all patient-engaged research but, in fact, should be the standard.
While we have advanced our work through a long collaboration with a genomics research stakeholder board, stakeholder-engaged work is intended to evolve out of and respond to unique contexts. We recommend building a stakeholder board for clinical pediatrics genomic studies that aim to enroll participants from marginalized communities that will include all relevant stakeholders (clinical providers and staff, investigators, research staff parents, genetic counselors, health and hospital system leaders, community leaders, etc.). Finally, our approach is designed to optimize the stakeholder board ‘s effectiveness by engaging board members in specific, well-defined tasks of clear relevance for the research (e.g., reviewing study materials, discussing specific challenges for the study in question). Collaborating with a stakeholder board in this way should be viable in any circumstance where authentic board engagement is the goal.
Conclusion and future directions
In our pediatric genome sequencing study, we utilized integrated, stakeholder-informed, patient- and provider-centered, and data-driven approaches designed expressly to recruit parents/legal guardians of seriously ill children with suspected genetic conditions. We enrolled participants, of whom 77% were from populations underrepresented in genomics research (exceeding our goal of 60%). Only a small percentage actively declined, and we retained the overwhelming majority of those enrolled despite COVID-19 delays and restrictions. Strikingly, there were no sociodemographic differences when comparing those who declined to those who enrolled or when comparing those who were lost to follow-up to those who remained in the study. We have limited data on eligible parents/legal guardians who declined to participate, and this information would be helpful for understanding how to further refine recruitment and retention strategies and may represent a future direction for stakeholder-engaged genomics research. We did not analyze differences in the effectiveness of in-person vs. virtual recruitment strategies (as we pivoted to virtual recruitment during the pandemic) or consider if specific recruitment and retention strategies had greater impact than others, which could be explored in future studies.
While our work was intended to improve enrollment and completion of parents/legal guardians in a pediatric genomic sequencing study, our approach may be effective for engaging historically underrepresented populations more broadly in pediatric research. Future studies could compare strategies for effectiveness and adaptation in different contexts or apply these approaches to other areas of clinical research.
Data and code availability
The datasets used and/or analyzed during the current study are available from the corresponding author upon reasonable request.
Acknowledgments
Research reported in this publication was supported by the National Human Genome Research Institute and National Institute for Minority Heath and Health Disparities of the National Institutes of Health under award number 1U01HG0096108. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. We also received resources from Mount Sinai Scientific Computing and Data, which is in part supported by a CTSA grant from the National Center for Advancing Translational Sciences grant UL1TR004419.
We would like to thank the Mount Sinai Genetics and Genomics Stakeholder Board, who advised us on all aspects of the project. We extend our profound appreciation to the parents/legal guardians and children who participated in this study, without whom studies like this would not be possible, and the clinicians and clinical staff who so generously worked with us. The authors also thank Tatiana Sabin for her assistance in organizing the references and Sima Rabinowitz for her expert editing input.
Author contributions
L.J.B., B.D.G., C.R.H., G.A.D., J.M.G., M.P.W., N.S.A.-H., R.E.Z., and E.E.K. contributed to the conception and design of the study. M.A. Ramos, K.E.B., N.R.K., S.A.S., K.B., M.D.B., K.M.G., J.L., K.L.A., P.N.M., E.M., J.A.O., J.E.R., M.A. Rodriguez, N.R., M.S., and N.M.Y. contributed to the acquisition of data. L.S., B.I., and N.R.K. performed the analysis. M.A. Ramos, K.E.B., L.S., N.R.K., and C.R.H. drafted the manuscript. All authors critically revised the manuscript for important intellectual content. All authors read and approved the final manuscript.
Declaration of interests
N.S.A.-H. is an employee and equity holder of 23andMe and serves as a scientific advisory board member for Allelica. E.E.K. received personal fees from Illumina, 23andMe, Allelica, and Regeneron Pharmaceuticals, received research funding from Allelica, and serves as a scientific advisory board member for Encompass, Bio, Overtone, and Galateo Bio. K.B. is an employee and stockholder of Illumina, Inc. M.P.W. receives consulting fees from Sanofi Genzyme and research funding from Abeona, Alexion, Ara Parseghian Medical Research Foundation, BioMarin Pharmaceutical, Cure Sanfilippo Foundation, Dana’s Angels Research Trust, Firefly Fund, Mirium Pharma, Noah’s Hope/Hope4Bridget, Orchard Therapeutics, PassageBio, Sanofi Genzyme, Sio Gene Therapies, Takeda Pharmaceutical, Travere Therapeutics, and Ultragenyx Pharmaceutical.
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Associated Data
This section collects any data citations, data availability statements, or supplementary materials included in this article.
Data Availability Statement
The datasets used and/or analyzed during the current study are available from the corresponding author upon reasonable request.