Measuring the impact of genetic testing
Research type
Research Study
Full title
Evaluating the psychometric properties of patient- and carer-reported outcome measurement instruments in the context of genome sequencing for rare disease diagnosis: A prospective cohort study
IRAS ID
325271
Contact name
Sarah Wordsworth
Contact email
Sponsor organisation
University of Oxford
Clinicaltrials.gov Identifier
NDPH_HERC_GENIM, Study Team's project reference number
Duration of Study in the UK
1 years, 5 months, 30 days
Research summary
What is the purpose of this study?
This study will improve our understanding of how to measure the impact of genome sequencing. The impact of genome sequencing can be measured in different ways. Some of these involve asking people who have undergone genome sequencing (or someone close to them) to complete questionnaires that ask them about their health, quality of life, and other things. Many different versions of these questionnaires are available. This study will find out which questionnaire is the best at measuring the impact of genome sequencing. This may help decision-makers determine if genome sequencing should be used more widely.What is genome sequencing?
Genome sequencing is a test that can help to find out what might be causing a person's health problems, by looking at their genes. This test may help doctors to make a disease diagnosis, and possibly help with deciding on treatment options.What are rare diseases?
Rare diseases are conditions that affect less than 1 in 2,000 people. They are not very common but can cause a lot of problems for those who have them. Many people with rare diseases don't get diagnosed, and may have a hard time getting the right treatment.Why is genome sequencing important for rare diseases?
Genome sequencing can help to find answers for people with rare diseases who do not yet have a diagnosis. It can make the diagnostic process faster and increase the chances of finding out what's wrong compared to other tests. This may also help to identify the right treatment.Why are health economists interested in genome sequencing for rare diseases?
Health economics helps people decide if new tests or treatments should be used in healthcare based on whether the test or treatment is good value for money. It's important to have this kind of evidence about genome sequencing to help decide if and how it should be used in the health system.REC name
Wales REC 6
REC reference
24/WA/0324
Date of REC Opinion
21 Oct 2024
REC opinion
Favourable Opinion