Polygenic scores (PGS) incorporate genetic information across the genome to provide risk estimates for complex conditions, and have the potential to improve population risk stratification and precision public health management (Adeyemo et al., 2021; Lewis & Green, 2021). Currently, however there is growing concern about the validity, feasibility, and equity of using PGS across populations (Adeyemo et al., 2021; Lewis & Green, 2021). Despite these concerns, PGS-based testing is already available to consumers in much of the Western world (Adeyemo et al., 2021; Lewis & Green, 2021). Given the current and potential applications of PGS to clinical and social settings, discussion is needed on how meaningful and equitable implementation of PGS can be achieved at the local and global scale.
Clinical genetics has long practiced person-centeredness and shared decision-making to ensure patient preferences drive informed decisions about genetic testing, particularly in the face of uncertainty (Biesecker, 2020). These practices of shared decision-making can be extended beyond individual clinical encounters to inform clinical program development. For a situation like PGS translation where uncertainty is high (Adeyemo et al., 2021), shared decision-making with community collaborators offers a means for arbitrating on hypothetical benefits and risks while ensuring alignment between healthcare systems and community values, interests, and resources. Put another way, local communities, patients, and their families are the ones most likely to shoulder any harms from inadequate implementation of PGS clinical services. Therefore, these parties should be the driving voice of clinical translation.
In this case study, we describe a community empowered design (co-design) process used by a Preventive Genomics Program (PGP) at Stanford Health Care (SHC) develop a PGS clinical service. The PGP was initiated as an endeavor to support precision public health services and improve prevention of chronic disease. Polygenic scores were one area of interest and exploration of the program in response to recent evidence of improved risk prediction in cardiovascular disease (Aragam & Natarajan, 2020) and breast cancer (Carver et al., 2021; Mavaddat et al., 2019). While the limitations and uncertainties of PGS were concerning, the leadership of this program had experience in implementing other population genomics programs and saw the uncertainty as an opportunity to evaluate community interest and preferences proactively rather than reactively. This case study is written as a collaborative effort between the hospital stakeholders, community partners and researchers involved in the co-design process to demonstrate the utility of community co-design for addressing uncertainty and making programmatic decisions. Our intention is to provide a framework for designing clinical programs in a way that is responsive to, and inclusive and respectful of the local communities in which a program may be implemented.
New Perspectives in Community Empowerment: Avoiding Shallow Engagement
Community engagement is a method for garnering public recognition of the social value of research, respecting study participant and community values, building trust, and empowering those traditionally left out of decision-making processes (Holzer et al., 2014). Grounded in social justice and community change processes, community engagement entails collaborative partnerships with groups on issues that affect their wellbeing (Holzer et al., 2014). Quality engagement requires attention to the engagement process and relationship such that interactions are respectful, genuine, and trustworthy enough to elicit honest feedback (Edick & Pilditch, 2020; PCORI (Patient-Centered Outcomes Research Institute), 2014). Meaningful community collaboration involves including community stakeholders in shared decision-making, ideally early in the process, with true power-sharing and intention to incorporate feedback (Organizing Committee for Assessing Meaningful Community Engagement in Health & Health Care Programs & Policies of the National Academy of Medicine, 2022). This trend towards power-sharing is sometimes referred to as “community empowerment” to distinguish values and principles from more passive and imbalanced forms of community engagement. In a community empowerment model, emphasis is placed on creating respectful relationships with communities “so as to facilitate their naming the problems and solutions for themselves” (Wallerstein & Bernstein, 1994). In other words, intention to engage or treating engagement as a checkbox is insufficient; decisions should be made with community partners rather than assumed upfront by researchers or clinicians. This distinction between shallow engagement, and community empowerment is further elaborated on by a community partner involved in the co-design process in Box 1.
The co-design described in this paper was informed by the Patient-Centered Research Outcomes Institute (PCORI) network’s best practices in community engagement and adapted for clinical program development rather than research. It includes four engagement principles: (1) a reciprocal relationship; (2) a true partnership with thoughtful timing for feedback, fair compensation, and a commitment to diverse group composition; (3) co-learning approaches with team learning and person-centeredness; and (4) transparency in decision-making, limitations and communication (Sheridan et al., 2017).
Box 1: Community Empowerment – Perspective from a Community Partner
Typically, individuals who are involved in community engagement projects are self-selected and have a commitment to assist in research; however, the projects are very prescriptive and already have a vision of the role of the community participant. Projects involve answering predetermined questions or issues of concern - the focus is on the researcher and their project. It is never the community’s project.
As an individual with experience in community engagement projects, I initially felt that the Preventive Genomics Program project would be in the typical style of a community engagement project. Questions would be asked, opinions would be sought, and the investigators would utilize what pieces of the group conversation were helpful to them. I was pleasantly surprised to see a different situation emerge – we’re now calling this experience community empowerment. In community empowerment, participants may begin in the engagement role, but the facilitators allow the group to become “empowered” to make suggestions on how the project should be developed.
In the Preventive Genomics project, our group members became empowered to make decisions by educating us in-depth on the topic, allowing time to reflect on the implications for ourselves and our community, valuing our intellect, responding to questions about the project and allowing healthy discussion that sometimes went “off track.” Over time, our group created a safe environment to tag-team ideas from one person to another. Many times, the group presented an issue or concern that had not been initially explored by the facilitators and these shaped the conversation to go in a new direction for exploration.
This project has shown that through community empowerment, group members can be actively involved in the development of the project and feel as if they also “own” the success or failure of the project.
-Sheryl Michelson, Member of the Preventive Genomics PFAC Workgroup
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