Courtney Berrios

Social epigenomics research investigates links between social experiences and epigenetic modifications, which may ultimately impact health. Such research holds promise for precision medicine and addressing health disparities based on social conditions, but also brings unique ethical challenges. The linking of social experiences to biological changes risks pathologizing experiences, potentially leading individuals and communities to be seen as ‘damaged.’ This stigmatization or stereotyping based on experiences also risks placing disproportionate personal responsibility for health. These risks are likely to be amplified in historically marginalized communities already facing discrimination. It is therefore essential to engage members of historically marginalized communities to explore attitudes about social epigenomics research. This study focuses on the Black and African American (B/AA) population in the USA, studying perceptions of social epigenomic research participants, research decliners, and broadly representative community members to identify perceived benefits and risks of social epigenomic research as well as strategies to maximize benefits and lower risks for both participants and communities. Both research participants and community members perceived potential benefit of social epigenomic research for the B/AA population. While most research participants did not perceive research related risks, community members identified risks both specific to social epigenomic research and more generalized to medical research. Several of the risks identified, and a belief that the likelihood of harms was greater than the likelihood of benefits, were based on past research injustices to B/AA research participants and mistrust in the medical and research enterprise. However, community members provided concrete strategies for maximizing the chance of benefits and lowering risk of harms including acknowledging and addressing biases and past injustices, ensuring transparency and understanding, positive framing of research, thorough research and dissemination, and engaging with communities before, throughout, and beyond the research process. While B/AA community members identified risk of both individual and community harm from social epigenomic research, they also perceived potential health benefits for the B/AA community. Through concerted efforts to apply community recommendations to lower risks and enhance benefits, researchers can conduct ethical and valid epigenomic research that aims to address health disparities with historically marginalized communities.

Background: Research priorities are best defined through engagement with communities who will be impacted by the research and have lived experience of the topics to be studied. We aimed to establish a pediatric rare disease community stakeholder group and empower them in (1) eliciting perspectives from affected families in the wider region and (2) synthesizing collective ideas into a research agenda focused on shared ethical, legal, and social implications (ELSI) across rare disease. Methods: This two-year project utilized a community-centered approach to engage rare disease community members as equal partners in developing a research agenda for ELSI in rare disease. We established “Rare Voices” (RV), a 22-member stakeholder group of patients, parents, clinicians and researchers. Following capacity-building trainings, RV designed and conducted listening sessions with teen patients and parents of children with rare diseases to explore challenges, positive experiences, and ethical concerns. Listening session findings were synthesized and contextualized into research topics, which RV members further refined and prioritized. We used established measures to assess RV member engagement and satisfaction. Results: From 14 listening sessions with parents (n = 52) and teen patients (n = 13), RV identified eight core research topics as most important for future rare disease research: coordinating care, communication, accessing resources and care, impact on family unit, community and support in society, mental health and identity, ethical aspects of care, and uncertainty. RV members were highly engaged throughout the two-year project and reported high levels of satisfaction with the experience and research agenda. Conclusions: Through capacity-building and authentic engagement, this project resulted in a community-led rare disease research agenda to guide future rare disease ELSI research that aligns with patients’ and families’ priorities. An environment of equal partnership and respect created a space for mutual learning where community members were empowered to shape the research agenda based on their collective experiences. The agenda recognizes the shared psychosocial and healthcare experiences of rare disease and offers practical areas of research to address patient and family needs.

Harms and risks to groups and third-parties can be significant in the context of research, particularly in data-centric studies involving genomic, artificial intelligence, and/or machine learning technologies. This article explores whether and how United States federal regulations should be adapted to better align with current ethical thinking and protect group interests. Three aspects of the Common Rule deserve attention and reconsideration with respect to group interests: institutional review board (IRB) assessment of the risks/benefits of research; disclosure requirements in the informed consent process; and criteria for waivers of informed consent. In accordance with respect for persons and communities, investigators and IRBs should systematically consider potential group harm when designing and reviewing protocols, respectively. Research participants should be informed about any potential group harm in the consent process. We call for additional public discussion, empirical research, and normative analysis on these issues to determine the right regulatory and policy path forward.

Sharing of genomic data aims to make efficient use of limited resources, which may be particularly valuable in rare disease research. Adult research participants and parents of pediatric research participants have shown support for data sharing with protections, but little is known about adolescent attitudes on genomic privacy and data sharing. In-depth interviews were conducted with 10 adolescents and 18 parents of children enrolled in a pediatric genomic research repository. Interview transcripts were analyzed for themes on attitudes toward genomic privacy, restricted-access data sharing, and open-access data sharing. Findings in adolescent and parent participants were compared and contrasted. No adolescents endorsed privacy concerns for restricted-access data sharing. Both adolescents and parents saw value in data sharing for reaching the goals of research and discussed trust in institutions and researchers to protect their data and use it as intended. Adolescents were more likely than parents to accept open-access data sharing, including after risks were discussed. In this exploratory study, adolescents and parents enrolled in a genomic research repository shared many attitudes about genomic data sharing, but adolescents were less concerned about privacy and more agreeable toward open-access data sharing. Future research is needed to investigate this hypothesis in expanded populations and settings, and to clarify whether adolescent attitudes change with age and experiences.

Adults with Hirschsprung disease (HD), unaffected parents of children with HD, and affected adults with an affected child completed a cross‐sectional survey with open‐ended questions about greatest needs at diagnosis and at current time, greatest challenges encountered, and any benefits of having HD or having a child with HD. In the 297 respondents, information and good medical care were common needs at diagnosis and at the time of survey, but the information needed evolved with time. Managing ongoing symptoms was a frequently cited need and challenge, along with managing medical care and the social and emotional impact of HD. Perceived benefits included empathy for others and new perspectives on life. The needs and challenges identified in this study can guide healthcare providers in discussions with families. Provision of information, recommendations, and referrals based on each individual family's needs can support families with HD throughout the lifecycle and facilitate adaptation.

Aim: This study explores parental understanding and attitudes around pharmacogenomic results in their child(ren). Patients and methods: In-depth interviews with parents whose child(ren) had receive...