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ArticleQuality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation2026

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.

Mackenzie Bourke, Xuemin Zhu, Tiffany Boughtwood, Clara Gaff, Amy Hunter, Brendan Mulhern, Tessa Peasgood, Clare Stuart, James Buchanan, Ilias Goranitis

Abstract readValidation Study
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Article in Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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4 · The record

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5 · Who and what money

Authors and funding

10 authors.

Mackenzie BourkeEconomics of Genomics and Precision Medicine Unit, Centre for Health Policy, Melbourne School of Population and Global Health, Melbourne, Australia.
Xuemin ZhuHealth Economics Research Centre, Nuffield Department of Population Health, University of Oxford, Oxford, UK.
Tiffany BoughtwoodAustralian Genomics, Melbourne, Australia.
Clara GaffMurdoch Children's Research Institute, Melbourne, Australia.
Amy HunterGenetic Alliance UK, London, UK.
Brendan MulhernCentre for Health Economics Research and Evaluation, University of Technology Sydney, Sydney, Australia.
Tessa PeasgoodDivision of Population Health, School of Medicine and Population Health, University of Sheffield, Sheffield, UK.
Clare StuartMito Foundation, Sydney, Australia.
James BuchananHealth Economics Research Centre, Nuffield Department of Population Health, University of Oxford, Oxford, UK. j.buchanan@qmul.ac.uk.
Ilias GoranitisEconomics of Genomics and Precision Medicine Unit, Centre for Health Policy, Melbourne School of Population and Global Health, Melbourne, Australia. Ilias.goranitis@unimelb.edu.au.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeThis 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.

methodsIn 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.

resultsThe 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.

conclusionThis 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.

Indexed as

CaregiversQuality of LifeRare DiseasesAdultAgedAustraliaChildEnglandFemaleHumansInterviews as TopicMaleMiddle AgedPsychometricsQualitative ResearchReproducibility of ResultsCognitive interviewQuality-of-lifeRare diseaseValidity

Identifiers

PMID42365553
PMCPMC13310824

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