Patient Preferences for Genomic Medicine: A Discrete Choice Experiment
Research type
Research Study
Full title
Eliciting Patient Preferences for Whole Genome and Exome Sequencing: A Discrete Choice Experiment in Scotland
IRAS ID
289518
Contact name
Mandy Ryan
Contact email
Sponsor organisation
University of Aberdeen and NHS Grampian
Duration of Study in the UK
0 years, 9 months, 11 days
Research summary
Research Summary
Patients with rare genetic conditions often endure a long series of genetic tests in search of a diagnosis. This ‘diagnostic odyssey’ involves considerable uncertainty for patients and families. New genetic technologies, such as Whole Genome Sequencing (WGS) and Whole Exome Sequencing (WES) may increase the number of patients who receive a diagnosis. However, these new genomic tests are significantly more expensive than standard genetic testing. Consequently, a decision must be made about the funding of these new tests in Scotland.
To conduct an economic evaluation of these new genome sequencing tests, we need to measure their benefits compared to standard genetic testing. However, the benefits of genome sequencing cannot be easily quantified in monetary terms. We need to value the benefits patients and families receive, such as receiving a diagnosis for their rare condition, peace of mind and closure. People are not used to paying directly for these kinds of benefits, so we need an alternative way to measure and value them.
To measure these benefits of genome sequencing, we will conduct a Discrete Choice Experiment (DCE) with patients and families with unexplained rare conditions in Scotland. In this online survey, participants will choose between different genetic tests, with varying attributes. The choices respondents make will tell us about their preferences for genome sequencing, and the trade-offs they make between attributes. For example, participants may be willing to wait longer for a higher chance of diagnosis. This survey will help us to capture the value of genome sequencing, and will provide inputs into an economic evaluation.
This study will measure the benefits of genome sequencing using interviews and an online survey. Informed consent will be recorded verbally prior to the interviews. The online survey will not collect any identifiable information, so completion of the survey will give implied consent.
Summary of Results
New genomic tests, including whole genome sequencing (WGS) and whole exome sequencing (WES) diagnose more rare conditions than standard genetic testing. However, little is known about how patients and families with rare conditions value these tests. In this study, we conducted a patient preference survey to measure the value of WGS and WES to service users.
First, we needed to determine what patients and families with rare conditions value about genetic and genomic testing. We conducted a series of interviews with patients and families who had prior experience of WGS or WES through the Scottish Genomes Partnership’s (SGP) involvement in the UK 100,000 Genomes Project or the Deciphering Developmental Disorders (DDD) research study. These interviews were used to develop and refine our survey, and ensured that the final survey reflected the views, values and experiences of service users. Our survey was then completed by 336 SGP and DDD study participants in Scotland.
We used a method called a discrete choice experiment (DCE) to estimate users’ willingness to pay (WTP) for different genetic and genomic tests. WTP is a monetary measure of value which takes into account everything that is important to users. For example, this tells us the value of a higher chance of diagnosis or shorter waiting time for test results.
The results of the survey show that patients and families with rare conditions highly value early genomic testing compared to standard genetic testing. Patients were willing to pay £219 for a 1% increase in the chance of diagnosis, £70 for 1 fewer clinic visit, and £100 for a 1-month reduction in waiting time for test results. As a result, if we only focus on the number of patients diagnosed by genetic and genomic testing, we may underestimate the value of these tests to patients and families with rare conditions. Providing WGS and WES as early as possible would align with patients’ preferences, and would ensure that NHS Scotland provides person-centred care.
We thank all the patients and families who participated in our survey, as week as the clinical and administrative staff in the SGP and DDD research studies, without whom this research would not be possible.
This study was funded by the Chief Scientist Office for the Scottish Government (Grant Ref. HIPS 19/17), sponsored by the University of Aberdeen, and approved by the North of Scotland Research Ethics Committee 1.REC name
North of Scotland Research Ethics Committee 1
REC reference
21/NS/0036
Date of REC Opinion
26 Mar 2021
REC opinion
Favourable Opinion