Beyond the Diagnosis: Valuing Genome-Wide Sequencing for Rare Disease Diagnosis Using Contingent Valuation.

IF 3.1 4区 医学 Q1 ECONOMICS Applied Health Economics and Health Policy Pub Date : 2025-03-14 DOI:10.1007/s40258-025-00948-x
Michael Abbott, Mandy Ryan, Rodolfo Hernández, Sebastian Heidenreich, Zosia Miedzybrodzka
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Abstract

Background and objective: The 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.

Methods: A 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.

Results: Of 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.

Conclusions: Obtaining 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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来源期刊
Applied Health Economics and Health Policy
Applied Health Economics and Health Policy Economics, Econometrics and Finance-Economics and Econometrics
CiteScore
6.10
自引率
2.80%
发文量
64
期刊介绍: Applied Health Economics and Health Policy provides timely publication of cutting-edge research and expert opinion from this increasingly important field, making it a vital resource for payers, providers and researchers alike. The journal includes high quality economic research and reviews of all aspects of healthcare from various perspectives and countries, designed to communicate the latest applied information in health economics and health policy. While emphasis is placed on information with practical applications, a strong basis of underlying scientific rigor is maintained.
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