Abstract
Background/Aims: 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 1,014 patients and families with experience of genome-wide sequencing to diagnose a rare condition in Scotland. Participants’ willingness to pay (WTP) for genomic testing was elicited using a contingent valuation (CV) payment card. The survey included two genomic-related patient-reported outcome measures: (i) the Personal Utility (PrU) Scale 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 was also collected on participants’ prior experiences of genomic testing services. A double-hurdle regression model investigated the predictors of WTP for genomic testing.
Results: Of the 1,014 invitations sent, 171 CV questionnaires were returned. Diagnosed participants reported higher personal utility on the PrU scale than undiagnosed participants. However, both groups reported similar negative psychological outcomes on the FACTOR scale. Diagnosed participants were WTP £2,043 for genome-wide sequencing, compared to £835 for undiagnosed participants. Diagnostic status, waiting time for results and FACTOR scores (negative psychological outcomes) influenced users’ valuations of genome-wide sequencing.
Discussion: 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- 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.
Methods: A survey was developed and administered to 1,014 patients and families with experience of genome-wide sequencing to diagnose a rare condition in Scotland. Participants’ willingness to pay (WTP) for genomic testing was elicited using a contingent valuation (CV) payment card. The survey included two genomic-related patient-reported outcome measures: (i) the Personal Utility (PrU) Scale 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 was also collected on participants’ prior experiences of genomic testing services. A double-hurdle regression model investigated the predictors of WTP for genomic testing.
Results: Of the 1,014 invitations sent, 171 CV questionnaires were returned. Diagnosed participants reported higher personal utility on the PrU scale than undiagnosed participants. However, both groups reported similar negative psychological outcomes on the FACTOR scale. Diagnosed participants were WTP £2,043 for genome-wide sequencing, compared to £835 for undiagnosed participants. Diagnostic status, waiting time for results and FACTOR scores (negative psychological outcomes) influenced users’ valuations of genome-wide sequencing.
Discussion: 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- 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.
| Original language | English |
|---|---|
| Journal | Applied Health Economics and Health Policy |
| Early online date | 14 Mar 2025 |
| DOIs | |
| Publication status | E-pub ahead of print - 14 Mar 2025 |
Bibliographical note
Acknowledgements: The authors acknowledge the contribution of the patients, families, clinical and administrative staff in the Scottish Genomes Partnership (SGP) and Deciphering Developmental Disorders (DDD) research studies, without whom this research would not be possible.Data Availability Statement
De-identified data and study materials are available from the authors upon reasonable request.Code is available upon reasonable request to the corresponding author.