National Strategy for Accelerating Genetic and Genomic Medicine in Ireland

The National Strategy for Accelerating Genetic and Genomic Medicine in Ireland is our first single national strategy for genetics and genomics services, encompassing care provided across acute, primary and community settings and spanning all ages. Through implementation of the National Strategy, the HSE is working to improve genetics and genomics services offered in Ireland, and striving to deliver a world-class patient and family-centred service that aligns with the values of Sláintecare through its focus on equity of access and improved patient outcomes.

The strategy will enhance the genetic and genomic workforce through the provision of additional frontline resources trained in genetic specialties: clinical geneticists, genetic counsellors, and genetic resource associates. A national education programme will build on current expertise and improve genetic/genomic literacy across health professionals and the public.

The strategy also creates a new National Genetics and Genomics Office with responsibility for the oversight and coordination of genetic services. This new office will work with the Department of Health to ensure policies are in place to make the services ethical and inclusive.

The key strategic areas of focus for the development of Ireland’s genetics and genomics service are:

  • Coordinating a national approach to genetics and genomics: The National Genetics and Genomics Office will oversee all aspects of genetic and genomic clinical service and research activities, and engage with key stakeholders to ensure any policy and legislative gaps are addressed. The NGGO is also responsible for driving the implementation of the National Strategy.
  • Ensuring Patient and Public Involvement (PPI) and Partnerships: Patient and Public Involvement will be fundamental to the successful implementation of the National Strategy and the development of a sustainable and equitable patient and family centred genetics and genomics service. Key to this is increasing awareness of and literacy in genetics and genomics among the public and patients. By empowering patients and the public, we will ensure that the development of the future consent process for genetics and genomics is reflective of their values and perspectives while ensuring alignment with best practice.
  • Building the genetics and genomics workforce for the future: A multi-disciplinary workforce plan will support recruitment, retention, education and career development of the current and future specialised workforce which includes genetic counsellors and clinical scientists. Staff will be supported and have opportunities to develop specialised knowledge and skills in genetics and genomics.
  • Enhancing genetic and genomic clinical services: There is a need to continue the transition of genetics and genomics into routine service delivery and support the timely use of effective, evidence-based genetic and genomic tests. This will enable the development of locally integrated, multidisciplinary, patient and family centred diagnostic and care pathways.
  • Strengthening infrastructures to drive advances in genetics and genomics: Supporting infrastructure is needed to collect, test, store, process and analyse samples for both patient care and ongoing research applications. To strengthen data infrastructure, existing genetic and genomic data capacity and capability will be reviewed. There will be continued work toward the establishment of a secure, scalable, and accessible data and analytical infrastructure to support clinical service delivery, bioinformatics, data access, and research. Continued work on further infrastructure implementation will be carried out to support clinical service delivery.

Strategy implementation priorities for 2024:

  1. Development of a National Genomic Test Directory for Rare and Inherited Diseases;
  2. Development of a National Genetic and Genomic Workforce Plan;
  3. Continued communications and Patient and Public Involvement (PPI) activity;
  4. Continued development of equitable national genetics and genomics services, including clinical genetics services, genomics laboratory capabilities and associated bioinformatics;
  5. Development of a national genetic and genomic data and technology roadmap with input through engagement with NCCP, NRDO and NWIHP;
  6. Continue to collaborate with research initiatives including Genomic Data Infrastructure and Genome of Ireland, and internationally through participation in the 1+Million Genome (1+MG) European project.