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Genetic Counselling

Genetic Counselling content

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.

Who can avail of this genetic counselling service?

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.

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.