Developing a community-led rare disease ELSI research agenda

Area of Science:

• Pediatric rare disease research
• Community-engaged research
• Ethical, Legal, and Social Implications (ELSI) studies

Background:

• Community engagement is crucial for defining research priorities, especially for rare diseases.
• A pediatric rare disease community stakeholder group was established to elicit family perspectives.
• The goal was to synthesize ideas into a research agenda focused on shared ELSI concerns.

Purpose of the Study:

• To establish a pediatric rare disease community stakeholder group.
• To empower this group in eliciting and synthesizing perspectives from affected families.
• To develop a research agenda focused on shared ELSI across rare diseases.

Main Methods:

• A two-year community-centered approach involved rare disease community members as equal partners.
• A 22-member stakeholder group, "Rare Voices" (RV), comprising patients, parents, clinicians, and researchers was formed.
• RV conducted listening sessions with patients and parents, synthesized findings, and prioritized research topics after capacity-building training.

Main Results:

• Fourteen listening sessions engaged 52 parents and 13 teen patients.
• Eight core research topics were identified: care coordination, communication, resource access, family impact, community support, mental health, ethical aspects, and uncertainty.
• RV members reported high engagement and satisfaction with the process and the resulting research agenda.

Conclusions:

• A community-led rare disease research agenda was developed through capacity-building and authentic engagement.
• The agenda aligns with patient and family priorities for future rare disease ELSI research.
• Equal partnership fostered mutual learning and empowered community members to shape research based on lived experiences.