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Participants' Experiences with and Perspectives on Genomic Research in the University of Wisconsin Undiagnosed Disease Program

Ethical Legal Social Issues (ELSI) Public Health and Policy
  • Primary Categories:
    • Health Care Inequities and health disparities
  • Secondary Categories:
    • Health Care Inequities and health disparities
Introduction:
Patient and family experiences with research, genomic medicine, and advancing technology constitute a rich, yet often untapped, data source for improving research programs focused on rare undiagnosed disease. While significant attention has been directed towards the technical aspects of genomic discovery, there has been less emphasis on comprehending the emotional, social, and practical needs of patients and families involved in these research initiatives. Engaging in research can offer individuals and families affected by rare undiagnosed disease a chance to mitigate or end their diagnostic journey. However, pursuing a diagnosis, including participation in a research program, can introduce new challenges concerning treatment options, insurance complexities, and interpersonal family dynamics. Our study examines the experiences of patients and families enrolled in an undiagnosed disease program at a major academic medical center in the Midwest. We sought to gain a deeper understanding of the challenges participants encounter and the creative solutions they devise while navigating their diagnostic journey and identify the factors affecting their participation and engagement with the research program.

Methods:
We conducted semi-structured, in-depth interviews with 25 University of Wisconsin Undiagnosed Disease Program (UW-UDP) participants (8 adult patients, 17 parents of undiagnosed children) and 12 referring clinicians. Participants were selected using maximum variation sampling to ensure diverse perspectives across race/ethnicity, language, disability status, and socioeconomic background. Interviews were recorded, transcribed verbatim, and analyzed using modified grounded theory and established team science approaches. The study employed the rigorous DIPEx methodology, internationally recognized as a gold standard for patient experience research, aiming to capture and show a maximum variation of health experiences.

Results:
Analysis revealed several key themes: 1) Participants' motivations balanced personal benefit with altruistic desires to advance medical knowledge, exemplified by one participant noting, "It's about the next person that follows us"; 2) Unmet needs associated with lack of diagnosis created significant challenges, including isolation, difficulty advocating for services, and the hardship associated with managing diverse symptoms with few clinical resources; 3) Insurance and financial barriers affected access to genetic testing, with unexpected disparities between private and public coverage; 4) The diagnostic odyssey profoundly impacted family dynamics, identity formation, and sense of belonging in rare disease communities; 5) Trust in research and healthcare systems was mediated by factors including communication frequency, provider engagement, and geographic access to expertise. Importantly, participation often enhanced families' sense of "genetic citizenship" and commitment to scientific advancement, even without a definitive diagnosis.

Conclusion:
This study provides crucial insights for improving genomic research programs and supporting undiagnosed disease patients. Findings suggest several actionable recommendations: 1) Developing targeted support systems for undiagnosed disease patients to address isolation and advocacy challenges; 2) Enhancing clinician-patient partnerships through improved communication protocols; 3) Addressing systemic barriers to clinical and research genetic testing access; 4) Creating resources to support families' transition between research and traditional healthcare settings. Understanding these experiences can help programs better recruit and retain diverse participants while also meeting the diverse needs of patients and families and advancing the field's capacity to solve challenging medical mysteries. These insights are particularly valuable as genomic and undiagnosed disease programs continue to expand globally.

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