Patient experiences and views on having WGS for IRDs
Research type
Research Study
Full title
Exploring patients’ experiences and views on having whole genome sequencing as a diagnostic test for inherited retinal dystrophies
IRAS ID
353840
Contact name
Katie Butler
Contact email
Sponsor organisation
Univsersity Hospital Southampton NHS Trust
Duration of Study in the UK
0 years, 7 months, 2 days
Research summary
Inherited Retinal Dystrophies (IRDs) are a complex group of genetic conditions which cause progressive vision loss and can eventually lead to blindness. IRDs are caused by variants in genes that play a role in the normal functioning of the eye. There are many genes associated with IRDs, and the conditions can be extremely variable. Patients who have had genetic testing for IRDs have reported both positive and negative experiences, such as feeling relieved to have a confirmed diagnosis or guilt at passing on the condition to their children.
In England, diagnostic genetic testing for IRDs is now carried out through whole genome sequencing (WGS) delivered by the NHS Genomic Medicine Service. WGS is the most comprehensive method of genetic testing currently available. Due to the complexity of WGS, patients must provide informed consent. Traditionally, this would involve a discussion between a genetics specialist and the patient. Consenting discussions will include the genetic testing procedure, potential test outcomes (including finding variants that we cannot yet interpret due to limitations in current knowledge), implications for family members, and the risk of unexpected findings in genes unrelated to IRDs that may be associated with other health issues.
As WGS is now available to patients on the NHS, pressure on genetics services to facilitate this testing has increased. Due to this, the NHS has begun to mainstream genetic testing whereby non-genetics clinicians are organising WGS for their patients negating the need to wait for an appointment in a clinical genetics service. This study aims to explore patient views on the diagnosis of IRDs through WGS in the NHS. We also aim to explore the experiences of participants who have been tested through mainstream healthcare, namely ophthalmology, and those who have been tested through a clinical genetics service.
REC name
East Midlands - Leicester Central Research Ethics Committee
REC reference
25/EM/0217
Date of REC Opinion
11 Nov 2025
REC opinion
Further Information Favourable Opinion