Meath schoolboy, James Morgan, celebrated his ninth birthday late last year. As well as welcoming a new year, James and his mum Karen welcomed a new national health development that is particularly significant for them both – the launch of the new National Genetics and Genomics Strategy. Outlining the significance, Karen, a patient representative on the Steering Group that developed the strategy, goes back to James’ birth in December 2013: “That was when my first little boy James was born by emergency caesarean section.”

James was immediately brought to the NICU (Neonatal Intensive Care Unit) for treatment. Karen explains: “We were told that he was born with a congenital disorder after which we spent three years in Crumlin Children’s Hospital where James was treated by Prof Owen Smith, Dr Melanie Cotter along with several other multidisciplinary teams.”    

Karen is particularly grateful to Prof Smith:

“I owe him James’ life.”

In his short life to date, James has had two bone marrow transplants from Irish donors. He had his first transplant just ahead of his first birthday, and the second the following year.

Karen continues: “We spent two Christmases in Crumlin hospital. We were really minded there, they do so much to make it a lovely experience in the hospital.” It was a difficult time as Karen and her family had no diagnosis for James: “All genetic tests were coming back inconclusive. We didn’t have a diagnosis until James turned six when Prof Smith rang to explain a gene mutation was discovered.  

“James has a rare disease and is the only child in Ireland with it. We also learned that it is not an inherited condition, which had been a huge worry for us as a family. We were waiting so long for a diagnosis, and had no access to genetic counselling or local supports which was challenging. Having a rare disease is a bit like driving a car in the dark with no headlights, we have no idea what’s coming next.”

Prof Smith, Professor of Child, Adolescent and Young Adult Oncology, Trinity College Dublin, and Consultant Paediatric Haematologist, Children’s Health Ireland, explains that “comprehensive genomic testing identified a novel de novo, (not present in his mum or dad) mutation in a ribosomal gene (SRP54) responsible for the severe clinical features phenotype in James and thus ended his protracted diagnostic odyssey. Looking to the future I would speculate that his condition, like in some other ribosomopathies where bone marrow failure is a distinct feature, will be cured using CRISPR/Cas9 genome editing and replacement stem cell transplantation as the latter comes with a heavy price in terms of transplant-related complications.”

The new National Strategy for Accelerating Genetic and Genomic Medicine in Ireland outlines the planned development of an enhanced patient and family-centred genetic and genomic service that will be coordinated nationally.

The strategy was developed in collaboration with the Department of Health, healthcare professionals, international experts, academics, patient representatives and advocates. 

Speaking at the launch last December, Dr Colm Henry, HSE Chief Clinical Officer, explained: “Advancing Ireland’s genetics and genomics service means improving healthcare for everyone in Ireland, because it will allow for increased disease prevention, better diagnostics, more targeted treatments, and better patient and family outcomes. Through this new expert-informed strategy, we can work toward a future where genetic and genomic medicine will be part of routine care delivery that can be accessed equitably across the country, from visits to the GP to extended care for rare disease or cancer.”

Patient and public involvement was a key feature throughout the development of the strategy, and the HSE is committed to continuing to feature patient voices throughout its implementation. Deirdre McNamara, Director of the HSE’s Strategic Programmes Office, said it was “a pleasure and a privilege to have the input of so many patient representatives and advocates in this process, and their contributions certainly shaped the content of the strategy in many ways. It is essential that the needs of patients and their families continue to be at the heart of the design and development of any new genetic and genomic services or initiatives in Ireland.”

Karen concludes: “I’m glad to say James is doing really well, he is not in hospital as much and is in first class in school. Thankfully the future of genetics looks really bright in Ireland, my hope is that the new strategy will improve access to genetic services in Ireland for families, will allow for better fertility services and reduce the wait in testing times and receiving a diagnosis.”