Societal perspectives on disease and treatment attributes characterizing rare diseases: a qualitative study from the United States

Shelagh M. Szabo, Ivana F. Audhya, David Feeny, Peter Neumann, Daniel C. Malone, Katherine L. Gooch

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


Purpose: Under a societal perspective, disease and treatment attributes that the general public deem important should be considered within value frameworks. The objective was to investigate how members of the general public value attributes beyond health gains and healthcare system expenditures; and better understand their perspectives regarding the importance of attributes typically characterizing rare genetic diseases like Duchenne muscular dystrophy (DMD). Methods: Qualitative interviews were conducted to elicit feedback on the importance of disease and treatment attributes from general public participants from three US cities. Participants ranked attributes (scale, 1–10) in terms of importance for future research, reported their rationale for ranking, and provided feedback specific to rare diseases. Interview transcripts were coded using NVivo for thematic analysis. Results: The 33 participants (median age, 51 years; 48.5% male) ranked disease severity (mean [median] ranking, 8.7 [9.0]), treatment availability (8.7 [9.0]), and impact on life expectancy (8.4 [9.0]), as most important. The impact on the family, need for equity, and intrinsic value of life were frequently provided rationales. While rare disease as an attribute received a relatively low ranking (6.1 [7.0]), 88% of participants prioritized disease profiles including attributes of severity, health related quality of life (HRQoL) impact, limited lifespan and young age at onset. Conclusion: Attributes including disease severity, impact on life expectancy and HRQoL, and treatment availability were all highly important to members of the general public. These findings support the growing evidence regarding the importance of expanding value assessments to include attributes considered important from a societal perspective.

Original languageEnglish (US)
Article number9
JournalJournal of Patient-Reported Outcomes
Issue number1
StatePublished - Dec 2022


  • Pediatric diseases
  • Preferences
  • Rare diseases
  • Value frameworks
  • Value of healthcare

ASJC Scopus subject areas

  • Health Informatics
  • Health Information Management


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