Abstract
Introduction: Unequal representation in genetic and genomic research is due to various factors, including historically inequitable and unjust institutional research practices, potential mistrust of biomedical research among underrepresented populations, and lack of access to or awareness of research opportunities. Facilitating sustainable dialog between diverse communities and genetic researchers can cultivate trusting, bidirectional relationships, potentially encouraging greater participation in research. Herein, we describe the co-creation of public health educational materials and dissemination plans using an approach designed to address inequities and foster community dialog. Methods: In this Methods article, we describe the iterative co-creation of genetics and genomics educational modules by genetics clinicians, researchers, and community members. The goal of these modules is to enhance the genetic literacy of the lay population and to facilitate informed decision-making regarding genetic research and health services. We used Designing for Dissemination and Sustainability, grounded in Dissemination and Implementation science, and its Fit to Context process framework to guide the process. This approach ensures that the public health context and writing for a diverse audience are considered throughout the modules’ development. Conclusion: This article offers an evidence-based template for adoption or adaptation by other community-engaged groups, aimed at bolstering equity and sustainability in the development of healthcare interventions and with an emphasis on accessible public health literacy. The co-creation by researchers and community members of both materials and dissemination plans may improve the cultural appropriateness and relevance of public health genetics campaigns. Ongoing research is needed to assess the impact of this approach on receptiveness and participation.
Introduction
Rapid progress in DNA-based population screening, focusing on actionable disease-predisposing genetic variation in asymptomatic individuals, holds tremendous potential to mitigate adverse health outcomes and drive the advancement of precision public health [1]. However, the widespread application of this technology in a healthy population faces numerous challenges to acceptance by the public, exacerbated by insufficient research in communities that reflect the population at large [2‒4]. Research on participation in clinical translational genomic studies reveals a disproportionate representation of higher-resourced individuals and those with European ancestry, while at the same time, individuals from lower-resourced and racially minoritized populations may be apprehensive about the disclosure of genetic data, its potential misuse, and the associated costs and risks of future discrimination [5‒9]. Past analysis demonstrates that if only specific segments of society engage in genomic research, existing health disparities will be exacerbated in clinical practice [10‒12].
Mistrust and misinformation about genomics, particularly in historically marginalized groups, must be addressed before genomic technology can be equitably applied to improve public health outcomes. Numerous studies have found that multilingual and culturally responsive educational resources can build genetic health literacy and awareness, and subsequently improve participation in research [13‒16]. Research has also shown the profound impact of fostering trust-based relationships and bidirectional communication, emphasizing the inclusion of communities historically marginalized and exploited by biomedical research, notably Black and African American people who have often been excluded from the benefits of their contributions to biomedical research [17‒23]. An inclusive approach has been shown to enhance interest and participation in research, particularly when the intended beneficiaries are engaged throughout the development process [24‒28].
Currently, most publicly available genetic educational resources are tailored toward individuals with higher education levels or a background in science or medicine, often overlooking underserved communities with lower literacy levels. These materials typically concentrate on disease-specific or test-related information, which may not effectively convey essential genetic concepts to a broader audience [29, 30]. Furthermore, educational materials aimed at patients frequently lack input from the very communities they seek to serve, resulting in limited relevance and effectiveness [31, 32], creating a gap between the evidence-based interventions’ design and their adoption by the communities for which they are intended.
The Age-Based Genomic Screening (ABGS) study, funded by the National Human Genome Research Institute and led by researchers at the University of North Carolina at Chapel Hill (UNC), seeks to integrate targeted genomic screening into routine pediatric well-child visits. At the core of the design and development of the ABGS study is a robust commitment to community partnership throughout its duration [25], along with the application of models and framework from dissemination and implementation science with the goal of enhancing access and equity across diverse settings [33].
ABGS is a novel proposal aimed at expanding screening opportunities for children for actionable genetic conditions, building upon the established public health success of newborn screening, which universally screens newborns for conditions where early detection and treatment offer clear health benefits. Unlike newborn screening, which operates on an “opt-out” basis due to its critical role in public health, ABGS is planned as an “opt-in” screening as it significantly expands the scope of screenable conditions, including some with lower penetrance and later onset in childhood. This transition to “opt-in” screening requires establishing new mechanisms to guide parents and providers through the complex decision-making and consent processes inherent in the program.
To address these challenges, we are creating caregiver-targeted educational resources on public health genomics, designed through participatory design with community members. Our approach is rooted in the Designing for Dissemination and Sustainability (D4DS) model, which ensures that, from the outset, an intervention is contextualized to meet the needs of its target audience and setting [34]. This foundation is central to both our current work and future goals for development, providing a roadmap for bridging the gap between the scientific complexity of genetics and genomics and informed decision-making by parents and caregivers. See Box 1 for a list of acronyms.
List of acronyms
ABGS | Age-Based Genomic Screening [33] |
D4DS | Designing for Dissemination and Sustainability [34] |
PRISM | Practical, Robust Implementation and Sustainability Model [35] |
RE-AIM | Reach, Effectiveness, Adoption, Implementation, and Maintenance [36] |
F2C | Fit to Context [37] |
In this Methods article, we describe how D4DS guides the iterative development of a public health intervention across four key phases: Conceptualization, Design, Dissemination, and Impact. The Fit to Context (F2C) process framework complements D4DS by operationalizing the actions and outcomes within these phases, ensuring alignment with evolving contexts. Additional dissemination and implementation science frameworks, such as the Practical, Robust Implementation and Sustainability Model (PRISM) [35], and Reach, Effectiveness, Adoption, Implementation, and Maintenance (RE-AIM) [36], further structure the process, prioritize understanding the needs of beneficiaries and adopters, and facilitate continuous evaluation to ensure equitable reach, adoption, sustainment, and health impact [37]. Through continuous community partnerships, feedback, and iterative refinement, the D4DS approach fosters health equity and optimizes the feasibility and adoption of ABGS among diverse populations.
Methods
Application of the F2C Process Framework
This article details the protocols and strategies employed to implement our research plans, recognizing that the D4DS model is inherently iterative. As such, we present our methodology while the work is still ongoing, providing a detailed account of completed work, current efforts, and future plans. The article is organized around the four phases of D4DS – Conceptualization, Design, Dissemination, and Impact – with subsections structured around the actions and outcomes of each phase, generated from our use of the F2C framework.
Building upon the foundational D4DS principles and methods, the F2C framework aligns actions and outcomes for each phase with specific research methods and approaches. By drawing on insights from diverse fields, including dissemination and implementation science, communications, marketing, and the arts, the F2C framework facilitates the systematic application of D4DS principles. Through the D4DS principles and F2C framework, we aimed to design a public health intervention that is tailored to its target audience, with a strong emphasis on ensuring both dissemination and sustainability from the project’s inception (Fig. 1).
The upper section of the figure illustrates the phases of Designing for Dissemination and Sustainability (D4DS). The bottom section outlines the development process of the Genetic and Genomic educational modules, structured according to these phases and adapted constructs based on the actions and outcomes from the Fit to Context (F2C) process framework. The application of F2C guides the module development, ensuring contextual alignment to meet diverse educational needs while advancing goals of dissemination, equity, and long-term sustainability.
The upper section of the figure illustrates the phases of Designing for Dissemination and Sustainability (D4DS). The bottom section outlines the development process of the Genetic and Genomic educational modules, structured according to these phases and adapted constructs based on the actions and outcomes from the Fit to Context (F2C) process framework. The application of F2C guides the module development, ensuring contextual alignment to meet diverse educational needs while advancing goals of dissemination, equity, and long-term sustainability.
Phase 1: Conceptualization
The initial phase of D4DS, Conceptualization, underscores the importance of community partnerships in understanding the need, demand, and capacity for a new intervention aimed at addressing a health issue of significance to communities. The following sections detail our approach to prioritizing the F2C objectives and outcomes for this phase in developing public health genetics educational resources. Key priorities include establishing a strong community-academic partnership, reviewing primary literature to understand established community needs and demands, and addressing contextual factors essential to promoting health equity and capacity for change.
Establishing Community-Academic Partnership and Genetic Educational Priorities. Community-academic partnerships are essential for ensuring that research is relevant, equitable, and accessible, particularly when addressing complex topics such as genomic screening. Using D4DS, which emphasizes tailoring interventions to fit the needs and contexts of the target audience, and the F2C framework, which operationalizes these principles, it becomes clear that integrating community perspectives early in the research process enhances both the relevance and the sustainability of the work. Involving community members as research partners allows for a more nuanced understanding of cultural, social, and ethical factors that academic teams alone may not fully grasp. Beyond their lived experiences, community members also bring diverse expertise which further enriches the collaborative process. By fostering bidirectional communication, these partnerships ensure that interventions are designed, conducted, and evaluated in ways that are meaningful to the communities they aim to serve. The collaboration between UNC researchers and the Community Research Board in the ABGS project exemplifies this approach, leveraging the strengths of both academic and community knowledge to co-create resources that resonate with diverse audiences and support informed decision-making.
In 2020, UNC researchers established the ABGS Community Research Board, actively involving parents from diverse backgrounds across North Carolina as research collaborators in the ABGS project [25]. From its inception, the Board has brought critical perspectives, and its members continue to bring valuable insights, representing a broad range of communities, racial and ethnic backgrounds, health insurance statuses, education levels, and viewpoints on genomic screening of children. Their contributions, informed by lived experiences and cultural insights, have shaped the research design, implementation, and materials of the ABGS study. New Board members receive education on genomic research and screening, along with its ethical, legal, and social implications, empowering them to contribute informed perspectives as fully integrated community researchers.
Initially, the UNC research team (consisting of a multidisciplinary group of academic researchers and clinicians from UNC with expertise in fields such as bioethics, social science, education, community engagement, newborn screening, dissemination and implementation science, health communication and decision-making, genetic counseling, pediatrics, and clinical genetics) selected topics they felt would best build capacity among Community Research Board members and introduce them to essential medical genetic concepts. These topics aimed to build public health genetic literacy and support informed decision-making about participation in research or the use of genetic health services (Table 1). Despite the combined expertise of the academic research team in genomics research and clinical practice, the team encountered challenges in effectively conveying this complex information in an engaging and accessible way. Feedback from Board members during early sessions played a pivotal role in reshaping our approach. They provided input on content, length, delivery modes, and readability, ensuring the resources would effectively resonate with the intended public audience.
ABGS genetics and genomics education modules
Module number . | Title . | Main topics . |
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1 | DNA – What Is It and What Does It Do? |
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2 | How Traits are Inherited |
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3 | Your Genes and Your Health |
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4 | Genetic Testing and Screening |
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5 | Safeguards in Genetic and Genomic Research |
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6 | Possible Risks and Benefits of Genetic Screening |
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7 | All About the Age-Based Genomic Screening Program |
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Module number . | Title . | Main topics . |
---|---|---|
1 | DNA – What Is It and What Does It Do? |
|
2 | How Traits are Inherited |
|
3 | Your Genes and Your Health |
|
4 | Genetic Testing and Screening |
|
5 | Safeguards in Genetic and Genomic Research |
|
6 | Possible Risks and Benefits of Genetic Screening |
|
7 | All About the Age-Based Genomic Screening Program |
|
This initial effort has grown into a co-design initiative, where the academic researchers from the UNC team and the community researchers from the Board work together as the “ABGS collaborative research team” to develop publicly accessible genetic health literacy resources. We now consist of approximately 25 members (with slight variation due to occasional attrition and new recruitment). We meet monthly via video conference and occasionally in-person, using an informal version of the Community Engagement Studios structured facilitation approach [38] to review and discuss the research design, conduct, materials, and evaluation of the ABGS study.
Evaluating Evidence, Needs, and Demand for Public Health Genetic Literacy. The increasing accessibility and complexity of genomic technology and information across clinical, commercial, media, and social media platforms has increased the potential for misinformation and gaps in genetic and genomic understanding [39, 40]. Consequently, there is a pressing need for resources to bridge these gaps outside specialized genetics environments, especially considering that individuals possess varying levels of general literacy and numeracy. Kaphingst [31] distinguishes between genetic knowledge and genetic literacy, highlighting that genetic literacy includes not only the acquisition of adequate knowledge of genetics and genomics but also the ability to effectively communicate and apply this knowledge in personal, social, and professional settings [41]. This definition underscores the importance of identifying the essential domains of genetics and genomics-related skills and knowledge for the dissemination and utilization of genomic information in both public health and clinical settings, as well as understanding the relationship between these domains and the application of genetic knowledge [42, 43]. Our ABGS collaborative research team embraces this definition of genetic literacy and has focused on crafting accurate, widely accessible, and reproducibly developed resources designed to support future empirical research efforts while also addressing health disparity issues in public health genomics education. By improving public genetic literacy, we hope to instill confidence in understanding and decision-making about genetic and genomic research, clinical offerings, and recreational or commercial genetics and genomics.
During almost 20 engagement and education events in North Carolina, members of the ABGS collaborative research team participated in activities to raise awareness of genetics and genomics among the public. We sought not only to educate but also to engage with community members, eliciting their thoughts, ideas, and concerns regarding genetic and genomic research. The team’s interactions with community members helped surface specific priorities in the community, guiding the development of educational resources tailored to address these concerns. Community priorities included transparency regarding the purpose and procedures of genetic and genomic research and health services, expressed in the form of questions and concerns about data storage, privacy, access rights, and the potential risks, benefits, and the relevance of research to themselves, their families, and their communities. Additionally, community members expressed concern about the risk that genetic screening may reveal conditions not covered by health insurance or federal health programs, regardless of the availability of preventive or management strategies. Overall, community members demonstrated an interest in expanding their understanding about genetic and genomic information, a factor known to increase recruitment in genomic research among Black and African American participants [44, 45].
Prioritizing Equity in Context and Capacity for Change. Historical incidents of abuse and exploitation perpetuated by researchers from academic and medical institutions against racialized minorities, as well as marginalized, lower-resourced, and disabled individuals and communities in the USA, have led to justifiable and enduring mistrust of biomedical research and the healthcare system among these populations [22, 46]. Furthermore, ongoing health discrimination and disparity, such as insufficient communication and exclusion from community research and developed outcomes, exacerbate this mistrust and discourage participation in genetic and genomic research, despite its potential to mitigate health inequities if implemented with representation from all populations [47‒49]. Nevertheless, amidst these persistent barriers, many members of underserved communities remain interested and open-minded about genetic and genomic research and public health interventions, driven by the prospect of disease prevention and an altruistic regard for future generations [27, 50, 51]. To explore this tension, the ABGS collaborative research team, along with other researchers, is studying the factors that encourage participation and identifying best practices for developing and disseminating educational resources on genetics and genomics. We believe this line of inquiry, guided by the F2C framework, is especially relevant for empowering and informing marginalized and historically harmed communities, and we are committed to further investigating it.
Previous research has emphasized the communication gap that exists between underrepresented communities, increasingly targeted for participation in genomics research, and presumably well-intentioned but culturally distant researchers [5, 21, 52]. These studies reveal a significant mismatch between study materials, recruitment strategies, and incentives, and the specific cultural contexts they are employed in, often resulting in a comprehension gap between researchers and the core values of the communities they aim to engage. Recognizing these discrepancies, the ABGS collaborative team plans to follow principles of communication science to tailor our engagement and recruitment approaches, ensuring they align with the cultural nuances significant to the target communities [53].
Moving forward, we plan to increase our formal engagement with our community partners and the communities they represent. A key component of this effort will be Listening Sessions (IRB# 24-1256), designed to capture and understand community perspectives on several critical topics highlighted by Middleton et al. [21], including the importance of acknowledging and depicting historical instances of research abuse and exploitation of Black and African American communities, identifying culturally appropriate methods for addressing these issues, and exploring additional topics to enhance the development of educational materials aimed at increasing awareness and understanding of genetic and genomic research and preventative screening among Black and African Americans. Fortunately, there is growing adoption of such practices, supported by an increasing number of funders, such as the Patient-Centered Outcomes Research Institute and the National Human Genetics Research Institute. The organizations are actively funding academic-community partnerships aimed at pursuing these inclusive practices. The D4DS paradigm offers valuable insights to optimize research products and innovations enabled through these partnerships, ensuring broad reach and feasibility from their inception.
Phase 2: Design
The D4DS Design phase emphasizes creating products and developing active dissemination and sustainability plans that are fully integrated with the intended context. In operationalizing the phase, F2C ensures that the objectives and outcomes are aligned with the established needs, demands, and capacity for change within the community or population represented by the partners. Embedding active dissemination and sustainability plans in the Design phase is crucial as these plans require iterative customization of messaging, packaging, and distribution channels to resonate effectively with the intended audience and setting. In the following sections, we outline our current and ongoing efforts, including our co-design of the genetics and genomics educational modules (“the modules”), initial engagement within communities using the modules to establish bidirectional communication, ongoing implementation of a feasibility pilot, and the development of future sustainability plans.
Co-Designing Genetics and Genomics Educational Modules. Insights from early module drafts utilized in community health events led the ABGS collaborative research team to broaden the scope of resources, co-developing them into seven comprehensive modules covering essential topics for genetic and genomic literacy (Table 1). At the time of publication, we had completed the first four modules through the Design phase, covering the scientific principles of genomic medicine. The subsequent trio of modules is currently in various stages of iteration in the Design and Dissemination phases. Modules 5 and 6 explore the ethical, legal, social, and technological dimensions of genetic and genomic screening and research. These modules address complex topics such as historical instances of unethical biomedical research and the contemporary research safeguards developed in response. The planned Module 7 will further build upon the content covered in the previous modules by introducing the ABGS study itself.
We initially conceived and developed each module as a static presentation, in the form of a slide deck; the modules have since evolved into dynamic storyboards, providing a flexible framework for seamless adaption and expansion into various media formats. These storyboards provide a clear visual and narrative structure that can be easily modified and enhanced. Each module follows a structured format, designed to be presented in under 15 min on average, and includes an introductory message, the main educational content, and key “takeaway concepts.” The modules can be delivered in full or broken into discrete sections, allowing for flexibility to suit the audience and context. To ensure the accessibility of the content, the modules are written in plain language, with readability targeted to a 5th-to 8th-grade level. We use consistent language and illustrations throughout the modules to maintain cohesive messaging, whether they are presented sequentially or as standalone learning units. Customized scripts accompany the modules to facilitate both independent and collaborative presentations by senior and junior academic and community researchers.
Initially, the co-development process followed a linear path (Fig. 2), with a small writing team of academic researchers from UNC creating a basic first draft of a module. The writing team then gathered and incorporated feedback from the community researchers on the Research Board through web-based forms and video conference discussions, focusing on assessing the appropriateness, accessibility, relevance, and clarity of the genetic concepts and images. This feedback loop was then repeated with the full academic research team, who reviewed the content for accuracy and depth. The writing team then integrated all feedback to refine the module, ensuring better alignment with the target audience’s needs.
a Initially, a linear process was employed for the co-design of the modules. b An expanded approach to module creation was later adopted, entailing iterative cycles of reviews among the subgroups of the ABGS collaborative research team. This iterative approach was implemented to ensure the incorporation of diverse perspectives and insights, enriching the developmental process of the modules.
a Initially, a linear process was employed for the co-design of the modules. b An expanded approach to module creation was later adopted, entailing iterative cycles of reviews among the subgroups of the ABGS collaborative research team. This iterative approach was implemented to ensure the incorporation of diverse perspectives and insights, enriching the developmental process of the modules.
Following these updates, a health literacy librarian from UNC’s Health Sciences Library assessed readability using Flesch-Kincaid Reading Grade Level and SMOG (Simple Measure of Gobbledygook) [52], identifying areas of unnecessary complexity, and suggesting plain language terms for broader accessibility. Following the literacy review, the academic researchers ensured the module content retained its scientific veracity. To address the dilemma of balancing readability with scientific precision in terminology, we began co-developing an accompanying plain language glossary of essential genetic terms as a supplement to the modules.
Ultimately, the challenges we encountered during the co-creation process, balancing visual and scientific accuracy and consistency, while ensuring broad accessibility, prompted the team to transition from a linear to an iterative design approach. The diverse composition of the ABGS collaborative research team led to a spectrum of recommendations, at times conflicting with each other, or with the academic researchers’ understanding of patient education practices. Although the switch to iterative development added complexity to tracking and incorporating feedback, we believe it has fostered a more inclusive approach where all perspectives are equally heard and considered. The new iterative design process currently involves multiple rounds of review between and among the academic and community researchers at various stages (Fig. 2).
The iterative co-creation process, particularly when numerous collaborators are involved, is inherently time-consuming and intensive. Effective co-creation requires multiple cycles of feedback, testing, and revision to incorporate different perspectives and refine solutions in real-time. This approach builds trust, improves outcomes, and ensures that interventions evolve in response to end-user input, leading to more relevant and sustainable solutions [53]. Following each iteration, the module undergoes refinement, resulting in a more polished version that advances to the next stage. Given the added complexity of the review process, we established stringent documentation practices to manage feedback and track suggestions and changes accurately.
As part of the new documentation process, the writing team documents the rationale behind each decision during deliberations and shares it with the ABGS collaborative research team. Revisions are reviewed for group consensus, often resulting in additional changes aimed at strengthening the connection between the content and the intended audience. The number of review rounds needed to finalize each module varies, influenced by factors such as topic complexity and the extent of feedback required. When consensus is not reached, the ABGS principal investigators make executive decisions to avoid collaborative stalemates. We follow an approach informed by the IAP2 Spectrum of Public Participation [54], ensuring that we clearly understand and mutually agree upon partnership members’ expectations for influence in decision-making during engagement activities. Following these iterative cycles, we transform the modules into comics and custom-illustrated slides accompanied by scripts for public distribution.
Engaging Communities in Dissemination and Education. We prioritize accessibility by integrating user-friendly graphics alongside the content. Art and illustration, particularly in comic-style format, are highly effective in medical and science education [55, 56]. This approach helps learners understand complex concepts by presenting engaging narratives with playful characters and visual metaphors. We posit that incorporating illustrations enhances the accessibility of complex genetic topics, especially for individuals with limited prior knowledge in the field. To develop compelling illustrations, the ABGS collaborative research team collaborates with a professional science illustrator to craft vibrant comic-style graphics. These illustrations feature an iconic anthropomorphic strand of DNA, “Gene,” as a narrator, who simplifies key genetics educational concepts for a lay audience through straightforward visuals, analogies, and relatable examples. We apply these graphical and narrative elements across all module storyboards to maintain coherence. We use corresponding illustrations in comics that encapsulate the content of each module. These comics reinforce the concepts we present in the slides, as well as offer an independent modality for conveying ideas about genetics and genomics. As with other module content, the comics undergo iterative reviews by the ABGS collaborative research team to ensure alignment with the drafted module content in the storyboards and to secure full team approval before subsequent dissemination.
We distribute the module comics, available in both full-color editions and black-and-white “coloring book” versions, at community events across North Carolina. These events, such as health fairs, STEM expos, workshops at high schools, and Heritage Month celebrations, serve as platforms for engaging with diverse communities and fostering awareness and interest in genomic medicine, by engaging the public in discussions with representatives of the ABGS project (from UNC and the Community Research Board). In encouraging productive interactions prior to recruiting parents for the ABGS pilot study, our objective is to establish an open exchange of information between researchers and the communities we intend to serve. This lays the groundwork for fostering relationships and bidirectional communication with stakeholders in potential implementation areas. Community members at these events have shown enthusiasm for the design and content of the comics. By connecting with members of diverse communities through accessible educational content, we can spark discussions about genetics and screening perceptions and acquire valuable insights into the learning needs and preferences of different community members (Table 2).
Examples of ABGS community outreach
Event . | Audience . | Mode . | Medium . | Modules . |
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Lunch and Learn Sessions | Community members and champions | Virtual | Slide presentation | 1–5 |
School Presentations | Parents, teachers, administrators | Virtual/in-person | Comics, slide presentation, videos, infographics, interactive electronic content | 3, 4, and 6 |
ABGS Focus Group | Parents and guardians | In-person | Slide presentation, videos, infographics | 3, 4, and 5 |
Community Outreach Events | General public | In-person | Comics, infographics, interactive electronic content | 1–7 |
Onboarding | New ABGS-CRB partnership members | Virtual/in-person | Slide presentation | 1–7 |
Event . | Audience . | Mode . | Medium . | Modules . |
---|---|---|---|---|
Lunch and Learn Sessions | Community members and champions | Virtual | Slide presentation | 1–5 |
School Presentations | Parents, teachers, administrators | Virtual/in-person | Comics, slide presentation, videos, infographics, interactive electronic content | 3, 4, and 6 |
ABGS Focus Group | Parents and guardians | In-person | Slide presentation, videos, infographics | 3, 4, and 5 |
Community Outreach Events | General public | In-person | Comics, infographics, interactive electronic content | 1–7 |
Onboarding | New ABGS-CRB partnership members | Virtual/in-person | Slide presentation | 1–7 |
The module storyboards – the initially created slide presentations – offer a flexible format for the development of additional future media types, such as brochures, animated videos, interactive web content, and infographics. This approach allows us to customize our outreach efforts to suit diverse audiences. By leveraging the same storyboard for multiple media types, we can streamline the creation process and ensure consistency in messaging.
To better understand community preferences regarding messaging, packaging, and distribution channels, the ABGS team incorporated two survey questions into a poster board displayed at community engagement events, allowing attendees to share their preferences independently. In addition, participants indicated their interest level in learning about genetic screening and their preferred method of learning this information through “dot voting,” marking their choices by placing sticky dots in response to prompts displayed on a poster board. The first prompt gauged interest in hypothetical genetic screening in children for actionable genetic conditions, offering response options ranging from “very interested” to “not at all interested.” The second question prompted participants to select their top three preferred methods for learning about genetic screening for children from the choices: attending live educational events, watching videos, visiting websites, playing app-based games, engaging with social media content, reading pamphlets, consulting with a child’s doctor, and others.
Preliminary results from over 500 attendees across four community events held within North Carolina’s Research Triangle area in 2023 and 2024 indicate that most respondents are at least “somewhat interested” in genomic screening for their children, supporting previous findings [8, 57, 58]. The top three methods for learning more about genomic screening, as indicated in the dot voting process, are visiting a website, watching a video, and consulting with the child’s doctor. This feedback underscores the importance of online resources and healthcare provider guidance in disseminating information about genomic screening to the public, and suggests that once complete, we should prioritize adapting the modules to video.
Mixed-Methods Feasibility Study. Building upon the preliminary feedback and interactions with community members, which suggested learners’ preferred media for genetic and genomic educational materials, we devised an explanatory mixed-methods feasibility study to investigate whether the modules can enhance genetic health literacy and subsequently bolster the likelihood of research participation. Meanwhile, as we begin to use the modules to facilitate meaningful interactions with the public at community events, we are examining the impact of the educational content and delivery methods on event attendees. Consented participants are randomly assigned to one of four groups, each exposed to different educational material and delivery methods. They are asked to complete a pre-survey measuring genetic knowledge and willingness to participate in genetic and genomic research, view the material being trialed, then complete a post-survey recapitulating the pre-survey’s questions. Participants are compensated with a USD 25 gift card.
Additionally, we plan to interview a diverse subset of interested survey respondents, to explore their perceptions and preferences regarding learning about and engaging in genomic research. As conceptual frameworks and models from D&I science are increasingly being adapted for the application of equity lens to the assessment of context and implementation [59, 60], we developed a semi-structured interview guide based on multilevel contextual domains from PRISM [35] with modifications by Fort et al. [61] to emphasize health equity. We also applied the Health Equity Implementation Framework [62], a tool specifically designed to assess both the factors influencing implementation and those affecting health equity, to the interview materials.
The goal of this pilot study is to gather insights into preferred learning modalities and sources of information in genetic and genomic medicine, thereby assessing determinants likely to influence dissemination, adoption, and sustainability. Ultimately, we seek to uncover issues with research participation that may not have been addressed during engagement events and to gain a contextual understanding of individuals’ perceptions of the modules and delivery methods. By comparing and integrating data from quantitative and qualitative sources, we expect to gain a richer and more comprehensive understanding of how community members’ perceptions and knowledge of genetics and genomics impact their decision-making about participating in genomic research. This understanding will guide further refinement of the modules ahead of a larger rollout to various communities and invested users.
Adapting Module Content for Future Sustainability. Adaptation is essential for ensuring the sustained use of an intervention, which fundamentally depends on access to the resource being adapted. Because these modules were developed with funding from the NIH, they are freely accessible to anyone interested. The slideshow presentations, full-color comics, and coloring book versions of the modules are published under the Creative Commons CC BY 4.0 license (Creative Commons, n.d.), accessible at https://creativecommons.org/licenses/by/4.0/. Once finalized, they will be publicly available for download on the ABGS website (www.med.unc.edu/genetics/abgs).
Early drafts of the modules have served as valuable tools for fostering active, reciprocal networks with local community representatives through outreach opportunities in-person and virtual presentations. These engagement sessions offer us the opportunity to showcase the modules while we talk about the work we do and answer questions from the audience. The community representatives are pivotal partners, building bridges between the project and the diverse communities it aims to serve. Their deep knowledge, influence, and access are essential to the equitable research and representation of the ABGS project. Building and nurturing these trusting relationships enables the project to effectively respond to the unique needs of target communities, particularly in advancing health equity and ensuring cultural appropriateness, feasibility, and acceptableness of the content. These connections also play a vital role in identifying the most effective communication channels and delivery methods for the content [63].
Phase 3: Dissemination
The D4DS Dissemination phase focuses on strategically sharing and distributing an intervention to target audiences in a way that maximizes its reach, uptake, and impact within that audience. During this phase, the near-final and final modules, designed in the previous phase, are actively shared through contextually and culturally relevant methods and communication channels. During this phase, we also seek to strengthen community partnerships through capacity-building activities and, in particular, through translating the modules into Spanish, to promote equity. Future plans include using the content dissemination methods identified as most effective in diverse communities, and collaborating with clinical providers and other potential adopters and champions to integrate the use of the modules into genetics and genomics research and practice.
Building Equitable Access through Language Translation. To expand our outreach efforts, we established a Spanish translation team, composed of bilingual members from the ABGS collaborative research team and other genetics professionals. The primary goal of this team is to ensure that all modules are accessible in both English and Spanish. We selected Spanish as a priority for translation due to its prevalence as the second most spoken language in North Carolina, with 7.9% of the population exclusively using Spanish, and over 1.1 million people in the state identifying as Hispanic/Latino [64]. To guarantee accuracy and accessibility, the Spanish translation team engages in an iterative process of translation, review, and discussion. This approach uses a similar review process to that used for the English language modules, aiming to maintain the fidelity of translated materials while prioritizing readability, accessibility, and comprehensibility for the Spanish-speaking audience.
Bilingual members of the ABGS collaborative research team have greatly facilitated participation in community outreach at Spanish cultural and health events. Our early outreach with Spanish-speaking populations has surfaced interest among these audiences in genomic screening for children. We have observed that delivering information in-person and virtually in a familiar language fosters inclusivity and greatly enhances enthusiasm for engaging with the material. Engagement with community members in multiple languages is crucial; our commitment to providing unbiased and fact-based information serves as an important tool to foster genuine connections and dispel misinformation.
Disseminating Modules through Community Outreach. Substantial capacity-building is critical for ensuring sustainability, and thus, capacity-building activities are essential to establish successful community partnerships for disseminating the modules within communities of interest. Prior engagement and awareness efforts significantly influenced the conceptualization and design of the modules, as has data collection with various partners advocating for health equity among underserved groups, including refugee/immigrant families, Latine and Hispanic, Asian Americans and Pacific Islanders, and Black communities, and rural communities in eastern and western North Carolina. We will use our experiences from these engagement activities to develop tailored strategies to improve dissemination and process outcomes, in order to promote health equity and build trust, connection, interest, and uptake (Table 3). We will leverage the results of the mixed-methods study to further refine the modules before disseminating them to a wider audience through collaborations with public adopters and champions.
PRISM contextual factors, partners, insights, and impacts
Contextual domains . | Insights . | Engagement . | Tailoring strategies . |
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Multilevel partner characteristics | Ensure equitable participation in design and dissemination, especially of historically marginalized and underserved communities |
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Multilevel perspectives on the intervention | Understand needs and priorities for improving health equity and for culturally appropriate, feasible, and acceptable content for historically marginalized and underserved communities |
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External environment | Address historical and ongoing racism, discrimination, and lack of access and discuss mitigation efforts |
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Implementation and sustainability infrastructure | Identify effective communication channels and best practices for developing and delivering educational resources to underserved communities |
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Contextual domains . | Insights . | Engagement . | Tailoring strategies . |
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Multilevel partner characteristics | Ensure equitable participation in design and dissemination, especially of historically marginalized and underserved communities |
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Multilevel perspectives on the intervention | Understand needs and priorities for improving health equity and for culturally appropriate, feasible, and acceptable content for historically marginalized and underserved communities |
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External environment | Address historical and ongoing racism, discrimination, and lack of access and discuss mitigation efforts |
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Implementation and sustainability infrastructure | Identify effective communication channels and best practices for developing and delivering educational resources to underserved communities |
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We plan to build a multifaceted educational and awareness campaign with an array of communication methods tailored to the preferences of the communities involved. Visual aids, including illustrations and videos, play a crucial role in enhancing content engagement [37, 65‒67]. Utilizing popular platforms like Facebook, Instagram, and YouTube has proven effective for reaching diverse audiences actively seeking health-related resources [66, 68], and we plan to promote the modules via these outlets in the future [69]. However, there remains a significant need for research into best practices for designing educational resources aimed at increasing public interest and participation in genomic research, particularly within underserved and marginalized communities [70]. As we analyze the data from the mixed-methods study, we will assess whether the specific content or methods of delivery influence willingness to participate in research and integrate this information into our plans for dissemination.
Our future plans include utilizing the modules to educate and engage bilingual community health workers as key agents in disseminating genomic knowledge and building capacity through education and training. Given their deep ties within the communities they serve, community health workers are well positioned to foster trust in and promote the acceptance of new public health initiatives. Leveraging the modules to train and engage community health workers would strengthen existing efforts in the field of genomics by enhancing genomic literacy and supporting precision health initiatives [71, 72]. Additionally, recruiting community health workers to disseminate and evaluate the modules would help ensure that the content remains relevant, equitable, and effective across diverse communities. This approach offers additional avenues for accessible and (potentially) tailored training, building on existing efforts to address the lack of resources supporting genomic literacy for these essential workers [73].
Connecting with Primary Care Providers. Ultimately, in addition to fostering strong engagement with communities and community members, ABGS implementation will have at its center primary care providers, including pediatricians, family medicine physicians, physician assistants and nurse practitioners, integrating genomic screening into routine well-child visits and presenting information to parents in clear, concise language. This approach aims to enhance clinical utility and improve the accessibility of genomic screening by bringing additional screening opportunities to points of routine care. Based on the genetic literacy corpus, which underscores the importance of clear communication and literacy in fostering informed decision-making, we anticipate that regular discussions between providers and parents, coupled with the gradual introduction of genomic concepts to children, could foster genetic literacy and confidence in making informed decisions as they grow into adulthood [43, 74‒76].
However, the widespread adoption of pediatric genomic screening in primary care settings will require addressing implementation challenges since this paradigm shift moves genomic screening from specialized settings to primary care. Research indicates that many non-genetics providers feel inadequately prepared to discuss genetic offerings with patients [77‒80]. We believe that the modules could serve as a valuable resource in this context, potentially assisting providers in navigating conversations about research or clinical offerings. While additional resources will be needed to support providers in obtaining consent and managing results, the modules offer a promising tool to help providers gain confidence in discussing genetic and genomic research, testing, and screening with their patients.
Phase 4: Impact
During the Impact phase of D4DS, the research product is evaluated to gauge its effects on both health and health equity, while also considering continual alignment with contextual factors and the necessity for adaptation. In this phase, we plan to use the RE-AIM framework [81] and Proctor’s implementation outcomes [82] for multilevel evaluation of the modules, assessing their external validity over a variety of settings.
Assessing and Adapting the Modules for Equitable Impact. To ensure equitable impact, we will iteratively assess implementation outcomes to plan and organize the expanded dissemination of the modules into communities, as well as to identify equity-enhancing approaches and address any unintended consequences of adaptations (Table 4). In addition to surveys and qualitative measures, we will utilize automated approaches such as YouTube analytics (e.g., impression rates, unique viewers, click-through rates), Google Analytics metrics for the project website (e.g., session duration, pages per session, source of traffic), and, with their consent, patient administrative data (e.g., gender, age, race, ancestry) from clinic partners. Emphasizing continuous improvement over time will be important for sustaining the impact of these modules. As we identify more opportunities for adoption and receive requests for adaptations, we plan to remain responsive to the evolving needs of communities. Our iterative process will enable us to refine the modules to better address the unique challenges and circumstances faced by different populations [83].
RE-AIM framework applied to the module development process
Phase . | Outcome . | Measurement . |
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Design | Acceptability, appropriateness, and feasibility | Acceptability of Intervention Measure (AIM), Feasibility of Intervention Measure (FIM), and Intervention Appropriateness Measure (IAM), via surveys with potential end users (e.g., researchers, clinicians, and community partners with a focus on including and serving marginalized and underrepresented communities) |
Effectiveness | UNC-Genomic Knowledge Scale for pre- and post-module viewing | |
Usability | System Usability Scale of potential end users as described above | |
User satisfaction | Key informant interviews of potential end users about whether the value proposition is validated, and the packaging, messaging, and communication channels are culturally appropriate and consistent with audience needs | |
Sustainability | Alignment with capacity and context of providers: Provider REport of Sustainment Scale (PRESS), Clinical Sustainability Assessment Tool (CSAT), and researchers and community partners: Program Sustainability Assessment Tool (PSAT) | |
Awareness and intent to adopt | Number and representativeness of organizations and individuals within those organizations engaging with and communicating interest in adopting the modules | |
Dissemination | Cost | Estimated cost of personnel time to train research collaborators and community partners to deliver the modules, cost of necessary adaptations |
Adaptation | Number and representativeness of organizations that adapt or request adaptations to the modules, as well as the number and types of adaptations and contexts to improve equity | |
Adoption | Number and representativeness, and transferrable processes from entities using the modules assessed via surveys and key informant interviews; no. of downloads from ABGS website and YouTube channel, assessment of usage, and context via surveys and key informant interviews | |
Impact | Implementation fidelity | Current settings and continued Fit to Context vs. adaptation of the modules via key informant interviews and focus groups with broader scale adopters (e.g., professional and federal organizations) |
Sustained equitable impact | Change in levels of interest and trust in and willingness to participate in future genetic and genomic research via key informant interviews with longstanding community partners; the reach and representativeness of research project enrollment after potential participants view the modules; the degree to which use of the modules is operationalized at the organizational level; representativeness of qualitative and quantitative metrics of patients’ health, well-being, and quality of life |
Phase . | Outcome . | Measurement . |
---|---|---|
Design | Acceptability, appropriateness, and feasibility | Acceptability of Intervention Measure (AIM), Feasibility of Intervention Measure (FIM), and Intervention Appropriateness Measure (IAM), via surveys with potential end users (e.g., researchers, clinicians, and community partners with a focus on including and serving marginalized and underrepresented communities) |
Effectiveness | UNC-Genomic Knowledge Scale for pre- and post-module viewing | |
Usability | System Usability Scale of potential end users as described above | |
User satisfaction | Key informant interviews of potential end users about whether the value proposition is validated, and the packaging, messaging, and communication channels are culturally appropriate and consistent with audience needs | |
Sustainability | Alignment with capacity and context of providers: Provider REport of Sustainment Scale (PRESS), Clinical Sustainability Assessment Tool (CSAT), and researchers and community partners: Program Sustainability Assessment Tool (PSAT) | |
Awareness and intent to adopt | Number and representativeness of organizations and individuals within those organizations engaging with and communicating interest in adopting the modules | |
Dissemination | Cost | Estimated cost of personnel time to train research collaborators and community partners to deliver the modules, cost of necessary adaptations |
Adaptation | Number and representativeness of organizations that adapt or request adaptations to the modules, as well as the number and types of adaptations and contexts to improve equity | |
Adoption | Number and representativeness, and transferrable processes from entities using the modules assessed via surveys and key informant interviews; no. of downloads from ABGS website and YouTube channel, assessment of usage, and context via surveys and key informant interviews | |
Impact | Implementation fidelity | Current settings and continued Fit to Context vs. adaptation of the modules via key informant interviews and focus groups with broader scale adopters (e.g., professional and federal organizations) |
Sustained equitable impact | Change in levels of interest and trust in and willingness to participate in future genetic and genomic research via key informant interviews with longstanding community partners; the reach and representativeness of research project enrollment after potential participants view the modules; the degree to which use of the modules is operationalized at the organizational level; representativeness of qualitative and quantitative metrics of patients’ health, well-being, and quality of life |
Discussion
Research on both professional and public perspectives on genomic screening across all age groups indicates significant interest, but also ongoing concerns about its implementation [57, 58, 79, 84, 85]. Parents considering genomic screening for their children express anxieties about disclosing genetic information, ensuring data security, and prioritizing immediate needs over elective sequencing [57, 86]. Many are concerned about costs, future discrimination, and the psychological impact of uncovering untreatable health conditions [58]. To effectively and equitably integrate genomic screening into pediatric care, it is essential to build trust with community partners of all backgrounds to identify desired information and determine optimal communication methods. If not addressed, these concerns could undermine public trust in and hinder the adoption of public health screening initiatives aimed at reducing health disparities.
The widespread deficiency in genetic health literacy among the public significantly impacts both clinical research outcomes and patient care [12, 87]. Furthermore, this gap is widened by sociodemographic and other factors, resulting in a pronounced discrepancy in comprehension and communication between researchers and community members [2, 21]. This discrepancy can particularly affect the recruitment and enrollment of underserved individuals into genetic and genomic research [88]. To address this challenge, we have taken a proactive approach to better understand community perspectives on genetic literacy before attempting to recruit or enroll community members for ABGS. In line with the D4DS paradigm’s emphasis on co-designing user-friendly, bilingual educational resources, our ABGS collaborative research team has leveraged the expertise of a user experience researcher and worked closely with a science illustrator and a graphic artist. Together, we are iteratively crafting modules that integrate feedback from both community members and experts, ensuring information is presented in an engaging, accessible, and accurate manner.
The community-academic partnership forged by the ABGS collaborative research team has significantly enhanced the value of the modules. Drawing on diverse perspectives, we work to ensure that our materials resonate with the communities we serve and effectively convey crucial information about genetics. In addition to module development, our team actively engages with the public to gain insight into the needs of underserved communities. During these engagements, community leaders have emphasized the importance of reliable information to facilitate equitable access to healthcare advancements, including genomic screening. They expressed a need for educational materials that address topics such as family history discussions, modes of genetic inheritance, and the importance of sharing genetic testing and screening results with close blood relatives. Furthermore, interactions with underserved communities underscored the need for educational resources presented in lay language. Such materials not only promote genetic literacy but also foster trust between these communities and the medical establishment. They play a crucial role in facilitating informed decision-making and ensuring equitable participation in research.
Through our outreach efforts to community members, we also became aware of the need to carefully understand the public perceptions about the effectiveness of genetic and genomic testing and screening in different populations. Many people are aware that most genetic research has been done on individuals of European ancestry and that research is lagging for other ancestral backgrounds. This is especially true of research into common complex diseases, where studies require thousands or tens of thousands of cases and controls, and the genetic architecture of disease risk may vary across different ancestral populations [4].
However, due to the nature of rare disease research, disparities play a more nuanced role in the effectiveness of genetic testing for Mendelian/monogenic conditions. Disparities in education, healthcare access, and appropriate engagement and recruitment can significantly influence who participates in research, potentially biasing findings and limiting the generalizability of results across all populations [2]. Additionally, the interpretation of genetic variants often relies on prior knowledge, which may be lacking or incomplete for underrepresented groups. As a result, variants may be classified as “variants of uncertain significance” or VUS, and not returned as pathogenic, leading to false negatives [48]. This issue is compounded by unequal access to follow-up and specialty care. At the individual level, these disparities further complicate the distribution of benefits from genetics and genomics, such as accurate diagnosis and personalized treatment. Populations less likely to receive genetic testing – or for whom the tests are less accurate – also face diminished benefits [89, 90]. It can therefore be difficult to disentangle the perceived and actual impact of disparities in research participation from the potential benefits and limitations of genomic screening for each individual.
Greater participation in genetic research and data sharing will enrich the knowledge base about disease-causing variants, thereby promoting the virtuous cycle of improving the equity of genetic testing outcomes. This nuanced understanding is pivotal, serving as a crucial equity marker for genetic health services, and forming the basis for a compelling value proposition aimed at encouraging participation in genetic research and data sharing among these communities. Furthermore, a significant health equity concern lies in the restricted access to cutting-edge research and potential therapies by racially minoritized populations. Clearly addressing these issues in educational resources not only fosters inclusivity but also strengthens the incentives for engagement in genetic and genomic research within these communities [23, 91].
We encountered several barriers during the project. Coordinating substantial input during the module development proved demanding, as did the limited availability of resources to conduct outreach. Balancing feedback from various invested users, including researchers, clinicians, and CRB members required careful handling to prevent conflicts within the ABGS collaborative research team and ensure that all perspectives were thoroughly considered. To address this, we developed a multilevel pathway to ensure all feedback was accurately documented. Efforts to disseminate the modules at outreach events have frequently faced constraints, including insufficient personnel or material resources to attend events. To overcome this, we will focus efforts on areas of highest need for populations underserved in genetics, collaborating with community partner organizations to explore more intimate settings to deploy the modules, such as Lunch and Learn events and listening sessions, rather than broader community-wide events such as fairs or street festivals.
Our approach is centered on collaborative development in support of the eventual widespread utilization of the modules. We prioritize adaptability and flexibility to incorporate feedback from a diverse array of community partners. This iterative strategy allows us to continually improve the modules, making them more relevant and effective, in line with the principles of D4DS methodology and the F2C framework. Thus, our efforts extend beyond the collaboration between academic and community researchers to create educational modules to encompass broader community outreach, including presentations and dissemination to local public-school classrooms, clinical providers, community members and connectors, as well as research collaborators [70], with the aim of eliciting responses and engagement from diverse potential end users. While our exploration of these concepts is centered on participation in genomic research, we strongly advocate for the broader adoption of this methodology by all researchers, aiming to build more equitable and collaborative relationships with the communities they engage or serve.
In this article, we have described how we applied the D4DS model and the F2C framework to develop resources that are both scientifically rigorous and responsive to community needs. By detailing the process behind the co-design of the genetics and genomics educational modules, we provide a practical example of how this approach can be effectively applied across various fields. We encourage its broader adoption to improve dissemination, promote equity, and ensure the long-term sustainability of outcomes.
Conclusion
The effective translation of genomic discoveries into equitable public health contexts hinges on understanding and addressing genetic literacy to foster meaningful public health engagement [31, 42, 43, 70, 87]. This will require further research to define genetic literacy, establish guidelines for proficiency, and develop interventions tailored to individuals with varying levels of overall literacy. Drawing from related fields such as health communication, health services research, and dissemination and implementation science, interventions can be designed to enhance communication and information dissemination. User-centered design approaches, including co-creation with community members, are essential for developing culturally and linguistically responsive genetic literacy interventions and dissemination strategies. Collaboration among researchers, practitioners, and community members is vital for advancing public health genetic literacy and optimizing the use of genomic information in research, healthcare, and society at large.
Acknowledgments
We would like to thank Terri Ottosen, UNC health literacy librarian, Sharisse Jimenez, a member of the Spanish translation team, and Rachel Phillips for assistance with edits. We would also like to express gratitude to many community members who have shared their valuable insights to inform the co-development of the modules. A preprint version of this article is available at medRxiv 2024.05.24.24307892 [92].
Statement of Ethics
The future evaluation of the module through a study protocol has been reviewed and been given an exemption by the UNC Institutional Research Board under study number 23-2772. Written informed consent was not applicable to this Methods article. In future evaluation of the module content with mixed-methods studies, any study participants will be required to give written informed consent for any surveys or interviews conducted.
Conflict of Interest Statement
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
Funding Sources
The project was supported by the National Human Genome Research Institute, National Institutes of Health, through award number 5R01HG012271, and the North Carolina Translational and Clinical Sciences Institute award number CTSC0209. The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIH.
Author Contributions
Grace Byfield, Kimberly Foss, Sabrina Powell, Daniel Torres, Ann Katherine Major Foreman, Jahnelle Jackson, Grace Leon-Lozano, Juhi Salunke, Margaret Waltz, Julianne O’Daniel, Bradford Powell, Samantha Schilling, Megan C. Roberts, Stefanija Giric, Elizabeth Branch, Jonathan Berg, Laura Milko, Thomas Owens, Ken Ray, Carla Robinson, Lennin Caro, Erin Song, Andreas Orphanides, Jonathan Shaw, and Nicole Shaw contributed to the conception and design of the manuscript and modules. Grace Byfield, Jahnelle Jackson, Grace Leon-Lozano, Laura Milko, Sabrina Powell, Daniel Torres, and Juhi Salunke wrote the first draft of the manuscript. All authors contributed to the development of the genetics and genomic modules and the manuscript revision and read and approved the submitted version.
Data Availability Statement
The original contributions presented in the study are included in the article material; further inquiries can be directed to the corresponding author.