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Genetics in ophthalmology: equity in service provision?
Hilary Burton1, Corinna Alberg, Anthony T Moore
1Foundation for Genomics and Population Health, Wort's Causeway, Cambridge, UK. hilary.burton@phgfoundation.org
Specialist genetic eye services in the UK show significant regional disparities and a shortfall in patient referrals. Strategic national planning is needed to ensure equitable access to expert care for inherited eye conditions.
Area of Science:
- Ophthalmology
- Medical Genetics
Background:
- Advances in molecular biology enhance diagnosis and management of inherited eye conditions.
- Effective clinical translation requires specialist services with multi-disciplinary expertise and resources.
- Investigating the equity of specialist provision in the UK is crucial for service development.
Purpose of the Study:
- To investigate the equity of specialist genetic ophthalmology service provision across the UK.
- To identify variations in service delivery and resources.
- To make recommendations for future service development.
Main Methods:
- A national questionnaire survey of UK specialist genetic services was conducted.
- Data were analyzed based on provider, catchment population, and Strategic Health Authority population.
- Nineteen specialist services were identified and evaluated.
Main Results:
- Significant variations in outpatient clinics and consultant sessions were observed.
- Many smaller services lacked complete multi-disciplinary teams.
- An estimated annual shortfall of 1000 new patient referrals was identified, with an 8-fold regional variation in patient activity.
Conclusions:
- A national strategic planning program for specialist genetic ophthalmology services is recommended.
- Essential elements include service specifications, standards, optimal configuration, and efficiency models.
- Education for ophthalmologists on the genetic aspects of their specialty is vital.
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