Journal article
Content validity, face validity and comprehensiveness of generic quality-of-life measures in adults and children with rare genetic conditions and their carers: a think aloud qualitative study
- Abstract:
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Purpose:
This study aims to assess the content validity, face validity and comprehensiveness of the: (a) EQ-5D-5L, EQ-HWB, and ASCOT SCT4, for adults with rare genetic conditions; (b) the EQ-5D-5L, EQ-HWB, and ASCOT-carer for carers of adults or children with rare genetic conditions; and (c) the EQ-5D-Y-5L carer proxy-complete for children with rare genetic conditions.
Methods:
In total, 60 qualitative think-aloud interviews were conducted in Australia and England to understand individuals’ thought process during the completion of the QoL measures. Participants were subsequently led through a semi-structured discussion. Transcripts were analysed for whether participants demonstrated understanding of the measures and thematic analysis was conducted on responses to the semi-structured discussion.
Results:
The majority of participants showed good understanding and supported the validity of the measures for people experiencing rare conditions. For carers, however, a broader evaluative space than health-related QoL was preferred. Several non-health domains were identified as important to both patients and carers, including treatment availability, impact on employment and finance, information and uncertainty, medication and carer burden, impact of passing on a condition, relationships and social connection, and experience with the healthcare system.
Conclusion:
This study provides some support for the face validity and comprehensiveness of the measures for people experiencing rare conditions. However, several participants felt that the narrow health domains were inadequate to capture the breadth of their lived experience. Future research should explore the extent to which the measures capture differences and changes in the QoL domains identified as important to patients and carers.
- Publication status:
- Published
- Peer review status:
- Peer reviewed
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- Files:
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(Preview, Version of record, pdf, 978.3KB, Terms of use)
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(Preview, Supplementary materials, pdf, 863.7KB, Terms of use)
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- Publisher copy:
- 10.1007/s11136-026-04324-7
Authors
+ EuroQol Research Foundation
More from this funder
- Funder identifier:
- https://ror.org/01mrvqn21
- Grant:
- 454-RA
- Publisher:
- Springer
- Journal:
- Quality of Life Research More from this journal
- Volume:
- 35
- Issue:
- 8
- Article number:
- 221
- Publication date:
- 2026-06-28
- Acceptance date:
- 2026-06-16
- DOI:
- EISSN:
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1573-2649
- ISSN:
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0962-9343
- Language:
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English
- Keywords:
- Source identifiers:
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4275294
- Deposit date:
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2026-06-28
- ARK identifier:
Terms of use
- Copyright holder:
- Bourke et al.
- Copyright date:
- 2026
- Rights statement:
- © The Author(s) 2026. Open Access. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder.
- Licence:
- CC Attribution (CC BY)
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