HSE launches first National Genetics and Genomics Strategy for Ireland

The HSE has launched the National Strategy for Accelerating Genetic and Genomic Medicine in Ireland. The strategy, which is the first of its kind 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 and healthcare professionals, international experts, academics, patient representatives and advocates. Provided under this strategy is:

• the creation of a new national office for genetics and genomics
• the transition of genetics and genomics into routine care delivery
• targeted workforce planning and development
• ensuring Public and Patient Involvement (PPI) and partnership
• the strengthening of Ireland’s infrastructure to drive advances in this area

Speaking at the launch, 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.”

Speaking to the Medical Independent in November, Dr Henry also said one of the first actions as part of the strategy will be establishing a national office.

“The key for us will be establishing this office, which will be the hub through which we will drive the different elements of the strategy and through which we will seek and secure funding, hopefully, from the department on a multi-annual basis,” he said. “So we can go from having islands of excellence to having a complete island of excellence in regard to genetics and genomics.”

Dr Mark Bale, former Genomics Advisor to the UK Department of Health and Chair of the National Genetics and Genomics Strategy Steering Group, said: “In the development of this strategy, we’ve noted examples of excellence in genetics and genomics evident throughout the country. However, because of the collective, invaluable contributions of over 100 experts, healthcare professionals, advocates and patient representatives, Ireland now has a comprehensive strategy.

“This provides a way forward for progressing this exciting field of medicine to improve citizen health and wellbeing whilst advancing research, innovation, and discovery. I have every confidence that Ireland will rise to this occasion, beginning with implementation in early 2023.”

Patient and public involvement was a key feature throughout the development of the strategy, and the HSE said they are committed to continuing to centre patient voices throughout its implementation.

Director of the HSE’s Strategic Programmes Office, Ms Deirdre McNamara 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.”

Genomics is the study of the body’s genes, their functions and their influence on the growth, development and working of the body. A genome is an organism’s complete set of DNA, including all of its genes. Genetic testing can be used to examine particular individual genes within the genome, and whether a person is carrying a specific inherited altered gene that causes a particular medical condition. Genomic medicine uses information about a person’s genetic makeup in devising innovative and effective new treatments and care pathways for patients.