Ms Avril Daly:

To take the example of my own circumstances, I have received a genetic test. I was diagnosed with an inherited retinal degeneration, a rare form of sight loss, in 1998, when I was 23 years old. I knew at that point that it was genetic in origin and that I probably had a recessive condition, meaning it had skipped a generation and popped up in me. I did not know how the condition was going to progress, because no one else in my family had it, but I knew there were 300 different gene types, so I had to have a genetic test to understand mine.

In 2017, I received a genetic test and a diagnosis through Target 5000, a genetic testing and research study funded by a small Irish charity called Fighting Blindness. This was undertaken by its clinical and research partners at Trinity College Dublin and the Mater Hospital. I was able to understand my prognosis because of that diagnosis. I was able to be told what research was being conducted on my gene and I could contribute to the research effort, not only nationally but globally if I wanted to go on a register, which I did. Moreover, if a clinical trial arrived, I knew they would know where to find me. A genetic counsellor explained to me on the day of my diagnosis that I did not have a recessive gene but rather a de novo gene, meaning it had started in me. I cannot begin to explain the relief that gave me to know it was not going to affect me or my family. I knew I had a mild disease and it could be managed, and I was given a care plan by my consultant at the Mater. That is critical. In the absence of treatment, a care pathway is incredibly important.

This is all very actionable stuff. It should not be incumbent on a small Irish charity to develop a world-class service such as this simply because it can and it has the ability to fundraise for it. There are patients living in this country, and parents with children with life-limiting diseases, who cannot set up a charity to fundraise to get access to these genetic therapies and all the processes involved. They are finding out, if they ever do, much too late that their child could have been part of a clinical trial. They are missing life-changing and potentially life-saving treatments. I got a genetic test after 20 years through a charity. Care pathways are sensible and very possible to provide.