In the genetic testing section of our website we outlined the many benefits of an accurate genetic diagnosis. However, it is important that you receive this genetic information in a supportive and easy to understand manner.
Your genetic diagnosis can be delivered by a healthcare professional trained in medical genetics and counselling. These experts, known as genetic counsellors, provide support and guidance to you and your family in understanding the diagnosis.
They can provide information on the risks and likelihood of the condition recurring in other family members. They can explain the limitations of the result and advise on possible next steps for you (and the family) in terms of your clinical care and treatment options, if available.
In 2018, supported by Fighting Blindness, an ophthalmology-specific clinical genetics programme was established for individuals and families affected by genetic forms of retinal disease. This programme involved the appointment of Ms Jackie Turner, a genetic counsellor and Dr James O’Byrne, a clinical geneticist.
Dr O’Byrne plays a major role in interpreting complex genetic data while also providing necessary clinical governance for the genetic counsellor.
This genetic counselling service will be based in the Mater Misericordiae University Hospital, Dublin 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.
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.
My husband and I had a meeting with a genetic counsellor as part of Target 5000. The counsellor was wonderfully helpful. We were given plenty of time to ask questions and everything was explained clearly. We were offered support if we need it in the future.
It is so good to get a definitive diagnosis finally, and to be able to understand why and how this condition was inherited; how it might affect our children and what the chances of that are. It was such a useful and valuable meeting.
I want to thank Fighting Blindness for providing us with this amazing opportunity, not only to better understand my husband’s condition, but also to be able to contribute to research into eye conditions in Ireland by possibly taking part in future clinical trials. Knowing that future generations might benefit from the knowledge that will be gained during this and future research using my husband’s samples is such a positive thing.