Measuring Patient- and Carer-Reported Outcomes Following Genome Sequencing for Rare Disease Diagnosis: A Psychometric Assessment of Outcome Measurement Instruments
Author(s)
Sally L. Sansom, BBMed, MPH, DPhil (in-progress)1, James Buchanan, BA, MA, DPhil2, Padraig Dixon, BA, MSc, MPhil, DPhil3, Michele Peters, BSc, Dip Psych, MSc, PhD4, Sarah Wordsworth, BSc, MSc, PhD1.
1Health Economics Research Centre, Nuffield Department of Population Health, Medical Sciences Division, University of Oxford, Oxford, United Kingdom, 2Health Economics and Policy Research Unit, Centre for Evaluation and Methods, Wolfson Institute of Population Health, Queen Mary University of London, London, United Kingdom, 3Nuffield Department of Primary Care Health Sciences, Medical Sciences Division, University of Oxford, Oxford, United Kingdom, 4Applied Health Research Unit, Nuffield Department of Population Health, Medical Sciences Division, University of Oxford, Oxford, United Kingdom.
1Health Economics Research Centre, Nuffield Department of Population Health, Medical Sciences Division, University of Oxford, Oxford, United Kingdom, 2Health Economics and Policy Research Unit, Centre for Evaluation and Methods, Wolfson Institute of Population Health, Queen Mary University of London, London, United Kingdom, 3Nuffield Department of Primary Care Health Sciences, Medical Sciences Division, University of Oxford, Oxford, United Kingdom, 4Applied Health Research Unit, Nuffield Department of Population Health, Medical Sciences Division, University of Oxford, Oxford, United Kingdom.
Presentation Documents
OBJECTIVES: Rare diseases (RDs) collectively affect 6-8% of the general population, yet diagnoses can take years and require many costly investigations. Genome sequencing is increasing RD diagnostic yield and speed. However, the information uncovered is complex and can impact patients and carers across clinical, emotional, cognitive, behavioural, and social outcome domains. This study aims to determine the generic multi-attribute utility instruments (MAUIs) best suited to measuring outcomes from genome sequencing for RD diagnosis.
METHODS: Systematic literature review (SLR) and critical appraisal: Primary studies measuring patient- and carer-reported outcomes from genome sequencing unrestricted by context and published by 16-March-23 were included. Instruments were critically appraised using COnsensus-based Standards for the selection of health Measurement INstruments (COSMIN) methodology. Cohort study: Adults undergoing genome sequencing for RD diagnosis and their carers, and carers of children undergoing sequencing, will be recruited from three UK National Health Service Genomic Medicine Services from December-2024 to February-2025. Six-hundred participants will complete quantitative surveys at baseline, and six- and 12-months post-baseline, and a sub-set will be qualitatively interviewed. Content validity, construct validity, responsiveness, and feasibility will be assessed.
RESULTS: SLR and critical appraisal: Twenty-nine studies using 58 eligible instruments were included. Twelve studies reported psychometric results but only four aimed to develop or validate an instrument. Four generic MAUIs (EQ-5D-5L, EQ-HWB-S, 15D, AQoL-6D), one generic psychological instrument, one generic carer health-related quality of life (HRQoL) instrument, and three genome sequencing-specific instruments were selected for inclusion in the cohort study. Cohort study: Baseline results for all participants will be presented, including Likert scale assessments of instrument relevance.
CONCLUSIONS: Generic MAUIs may not be sufficiently relevant or comprehensive for measuring the impact of genome sequencing for RD diagnosis on patients and informal carers. Overlooking important outcomes from genome sequencing in health technology assessments could result in inefficient funding decisions.
METHODS: Systematic literature review (SLR) and critical appraisal: Primary studies measuring patient- and carer-reported outcomes from genome sequencing unrestricted by context and published by 16-March-23 were included. Instruments were critically appraised using COnsensus-based Standards for the selection of health Measurement INstruments (COSMIN) methodology. Cohort study: Adults undergoing genome sequencing for RD diagnosis and their carers, and carers of children undergoing sequencing, will be recruited from three UK National Health Service Genomic Medicine Services from December-2024 to February-2025. Six-hundred participants will complete quantitative surveys at baseline, and six- and 12-months post-baseline, and a sub-set will be qualitatively interviewed. Content validity, construct validity, responsiveness, and feasibility will be assessed.
RESULTS: SLR and critical appraisal: Twenty-nine studies using 58 eligible instruments were included. Twelve studies reported psychometric results but only four aimed to develop or validate an instrument. Four generic MAUIs (EQ-5D-5L, EQ-HWB-S, 15D, AQoL-6D), one generic psychological instrument, one generic carer health-related quality of life (HRQoL) instrument, and three genome sequencing-specific instruments were selected for inclusion in the cohort study. Cohort study: Baseline results for all participants will be presented, including Likert scale assessments of instrument relevance.
CONCLUSIONS: Generic MAUIs may not be sufficiently relevant or comprehensive for measuring the impact of genome sequencing for RD diagnosis on patients and informal carers. Overlooking important outcomes from genome sequencing in health technology assessments could result in inefficient funding decisions.
Conference/Value in Health Info
2025-05, ISPOR 2025, Montréal, Quebec, CA
Value in Health, Volume 28, Issue S1
Code
PCR42
Topic
Patient-Centered Research
Topic Subcategory
Patient-reported Outcomes & Quality of Life Outcomes
Disease
No Additional Disease & Conditions/Specialized Treatment Areas, SDC: Rare & Orphan Diseases, STA: Personalized & Precision Medicine