Genetic counselling for inherited retinal degenerations

We are delighted to share an extremely positive and encouraging milestone for Target 5000 and its participants. Funded by Fighting Blindness and through the support of you and all our members, an ophthalmology-specific genetic counselling programme has now been established for individuals and families affected by genetic forms of retinal disease.

Last year, we conducted a survey of the Fighting Blindness membership giving us a greater understanding of the various challenges that our members face. It was clear that Target 5000 provides a significant and crucial service for people living in Ireland with genetic forms of retinal disease. However, timely feedback of genetic results remained an area of concern for many.

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

This survey feedback once again highlighted the urgent need for Fighting Blindness to bridge a gap and fulfil a service that did not exist in Ireland for people living with genetic forms of sight loss. As a result one of the key recommendations was the appointment of a genetic counsellor as part of Target 5000.

Genetic Counselling Programme Explained:

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 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?

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

Initially, people for whom the underlying genetic mutation has been identified and clinically validated can avail of this service. These individuals will be contacted by the Mater Misericordiae University Hospital over the coming months and an appointment scheduled to meet with the genetic counsellor. When the calling back of these patients is underway, individuals for whom a genetic diagnosis has not yet been identified will also be in a position to avail of this service.

Next steps

Target 5000 and its continued progression remains a key priority. The establishment of this genetic counselling programme could not have been achieved without your support. 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.