Our genes hold powerful information that can be used to help diagnose conditions, guide more effective treatments, and predict our risk for disease, helping to improve patient outcomes and overall population health and wellbeing.
Genomic medicine harnesses this power and is enabling a paradigm shift from a disease-oriented ‘one-size-fits-all’ healthcare approach to one that is more personalised, predictive, preventative, data-driven, and cost-effective.
To date, Ireland has made some progress in developing its genetic and genomic services, with examples of excellence evident throughout the country. However, to fully realise the benefits of genetics and genomics, there is an urgent need to mainstream them so that they can become an integral part of our routine care delivery.
A coordinated national genetics and genomics service is required to optimise patient outcomes and patient/citizen experience while advancing research, innovation, and discovery in this fast-moving field.
In early 2022, the Health Service Executive (HSE) Office of the Chief Clinical Officer established a National Genetics and Genomics Strategy Steering Group and four Working Groups to drive the collaborative and inclusive development of Ireland’s first National Strategy for Genetics and Genomics.
Over 100 experts, a number of patient representatives / patient advocates, the Department of Health (DOH), and other key stakeholders contributed to the work. Patient and public involvement was at the heart of the strategy’s co-creation.
The key strategic areas of focus for the development Ireland’s genetics and genomics service are:
- Coordinating a national approach to genetics and genomics: A national office for genetics and genomics will be established to oversee all aspects of genetic and genomic clinical service and research activities, engage with key stakeholders to address policy and legislative gaps, and drive the implementation of this strategy.
- Ensuring Patient and Public Involvement (PPI) and Partnerships: In alignment with Sláintecare, this National Strategy outlines our approach for developing a sustainable patient and family centred genetics and genomics service that can be accessed equitably across the country and across the lifespan of patients. The service is to be supported by strong governance, a skilled workforce, pioneering research and innovation, and trusted partnerships.
- Building the genetics and genomics workforce for the future: A workforce plan will support recruitment, retention, education and career development of the current specialised workforce which includes genetic counsellors and clinical scientists. Staff will be supported and will 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 use of 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. Continued work on further infrastructure implementation will be carried out to support clinical service delivery.
The HSE have finalised the Strategy Implementation Plan 2023 for the National Strategy for Accelerating Genetic and Genomic Medicine in Ireland.
The planning for the implementation of this strategy commenced in January 2023 for a period of 8 weeks. A time-limited taskforce was established to contribute to the development of an implementation plan and roadmap to achieve 10 priority deliverables for 2023. These initial deliverables will enable and strengthen further implementation of the 5-year National Strategy.
The 10 priority deliverables captured within the Strategy Implementation Plan are:
- Development and agreement of the implementation plan and governance structures;
- Establishing an Implementation Steering Group for Genetics and Genomics to lead and drive the implementation of the National Strategy;
- Development of a National Test Directory for Genetics and Genomics;
- Development of a National Genetic and Genomic Workforce Plan;
- Establish a National Office for Genetics and Genomics and manage the recruitment of associated roles;
- Review existing genetic and genomic data capacity and capabilities;
- Manage the recruitment for frontline workforce roles, funded through the 2023 estimates process;
- Development of a targeted communications programme to improve public and patient literacy;
- Continue to collaborate internationally through participation in the 1+Million Genome (1+MG) European project;
- Participate in the Genomic Data Infrastructure (GDI) project with HSE representation on the project governance board.