ArticleApplied health economics and health policy2025
Beyond the Diagnosis: Valuing Genome-Wide Sequencing for Rare Disease Diagnosis Using Contingent Valuation.
Article in Applied health economics and health policy, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
2 citing papers in PubMed, 1 synthesis or guideline pooled it.
- The Psychosocial Impact of Receiving Whole Genome and Whole Exome Sequencing Results in Adults: A Systematic Review.Journal of genetic counseling · 2026Pooled it
- The Health Economics of Genomic Technologies: A Growing Evidence Base on Value.Applied health economics and health policy · 2025Article
Corrections and comments
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Authors and funding
5 authors.
Funding
Abstract
BACKGROUND AND
objectiveThe utility of genome-wide sequencing is often quantified in terms of its diagnostic yield. Although obtaining a diagnosis is a fundamental aspect of value, service users also value broader clinical, informational, process and psychological factors in the provision of genomic testing. This study aims to value genome-wide sequencing from the user perspective in Scotland.
methodsA survey was developed and administered to 1014 patients and families with experience of genome-wide sequencing to diagnose a rare condition in Scotland. Participants' willingness to pay for genomic testing was elicited using a contingent valuation payment card. The survey included two genomic-related patient-reported outcome measures: (i) the Personal Utility Scale (PrU) to generate scores for the personal utility of genome-wide sequencing; and (ii) a subscale of the Feelings About Genomic Testing Results (FACTOR) questionnaire to measure negative psychological outcomes. Data were also collected on participants' prior experiences of genomic testing services. A double-hurdle regression model investigated the predictors of patients' willingness to pay for genomic testing.
resultsOf the 1014 invitations sent, 171 contingent valuation questionnaires were returned. Diagnosed participants reported higher personal utility on PrU than undiagnosed participants. However, both groups reported similar negative psychological outcomes on FACTOR. Diagnosed participants were willing to pay £2043 for genome-wide sequencing, compared with £835 for undiagnosed participants. Diagnostic status, waiting time for results and FACTOR scores (negative psychological outcomes) influenced users' valuations of genome-wide sequencing.
conclusionsObtaining a diagnosis is a fundamental component of utility in the provision of genomic testing. However, there is still value to those who do not receive a diagnosis. These results have implications for service delivery, such as providing targeted pre-test and post-test genetic counselling, and investing in efficient genome sequencing pipelines to reduce waiting times. Valuing the user experience of genomic testing aligns with patient-centred approaches to the provision of healthcare.
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Registered trials
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