Ensuring adequate service provision for genetic eye diseases

19 May 2008

A new report by the PHG Foundation, Genetic ophthalmology in focus: a needs assessment and review of specialist services for genetic eye disorders, sets out the findings of an expert working group commissioned by the UK Genetic Testing Network (UKGTN) to assess how NHS ophthalmology services needed to change in response to emerging knowledge and opportunities from modern genomic science. Although inherited forms of eye diseases such as the retinal and corneal dystrophies are individually relatively rare, collectively they are significant, and account for more than 10% of new diagnoses of blindness in the UK each year in adults of working age. There is also increasing recognition that genetic factors play an important role in the common eye diseases that typically affect older people, such as age-related macular degeneration (see previous news) and glaucoma (see previous news).

Chaired by Professor Tony Moore from the Institute of Ophthalmology in London, the Working Group included experts in ophthalmology and genetics, and consulted patients and voluntary organisations about their experiences and needs. Patients who have (or may have) inherited forms of eye conditions were found to require prompt and equitable access to integrated and up to date care. A range of health services and specialties are needed; in addition to medical, surgical and nursing support in ophthalmology, genetic counselling and testing and specialist electrophysiology are essential. In many cases, patients may have disorders that cause multiple symptoms in addition to their visual problems (for example, Marfan Syndrome or von Hippel-Lindau disease), making co-ordinated clinical management desirable.

The group found that although there was some specialist service provision in genetic ophthalmology, access to these services was uneven. It recommended that integrated systems and care pathways, including referral systems, should be put in place to make sure that all patients had access to appropriate multidisciplinary services. Efforts to increase wider awareness of these services were encouraged, along with enhanced specialist training provision for genetic ophthalmology. It also recommended that services should include information on voluntary organisations that can provide patient support. There was a general requirement for increased capacity in relevant services, including an urgent review of access to and funding of genetic testing, and of how commercial provision might be integrated into NHS systems.

This project forms part of the PHG Foundation’s Promoting Genetics in Mainstream Medicine work programme.


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