Clinical Genetics Programme for Inherited Retinal Degenerations

Following a membership survey in 2017, it was clear that Target 5000 provides a significant and crucial service for people living in Ireland with genetic forms of retinal disease. 80% of survey respondents reported having received a genetic test through the target 5000 programme.

However, for the accurate and supportive delivery of important genetic information, it is imperative that individuals and their families have access to clinical experts such as genetic counsellors. Unfortunately, clinical genetic services remain an area that is greatly under-resourced, with Ireland having amongst the lowest number of genetic staff in Europe.

Supported by Fighting Blindness, an ophthalmology-specific clinical genetics programme has now been established for individuals and families affected by genetic forms of retinal disease.

What does the genetic counselling programme entail?

The present genetic counselling programme includes the appointment of a genetic counsellor and clinical geneticist. A genetic counsellor is a trained expert who can support individuals in understanding their diagnosis, provide information on the benefits, risks and limitations of the result, and advise on possible next steps. The clinical geneticist, on the other hand, plays a major role in interpreting complex genetic data while also providing necessary clinical governance for the genetic counsellor.

With this trained expertise in place, we can now deliver long awaited, important information back to individuals in a timely, appropriate and supportive manner.

Who can avail of this genetic counselling service?

This genetic counselling service will be based in the Mater Misericordiae University Hospital and is available to individuals who have participated in Target 5000 across the three clinics; Mater Misericordiae University Hospital, Royal Victoria Eye and Ear Hospital Research Foundation and Belfast Health and Social Care Trust.

Next steps for Fighting Blindness

The Target 5000 programme and its continued progression remains a key priority for Fighting Blindness. The establishment of this genetic counselling programme could not have been achieved without the support of our members. However, as part of bridging this gap, Fighting Blindness will continue to advocate for increased investment by the Government into ophthalmology clinical genetic services in Ireland.