National Strategy for Genetics and Genomics in Ireland

Since May 2022, the Strategic Programmes Office within the HSE has been leading the development of Ireland’s first National Strategy for Genetics and Genomics.

Once completed, the strategy will define the actions required to support a focused model for Genetics and Genomics in Ireland and allow the HSE to develop a genomics service that will improve health outcomes, drive down the cost of care, and fuel scientific innovation and discovery.

Genetics and Genomics in Ireland

Genomic medicine is delivering huge benefits for patients around the world by offering them the best predictive, preventive, and personalised care, while simultaneously driving down costs.

This modern approach to medicine has the ability to improve the lives of people at risk for and suffering from some of the world’s most prevalent conditions, such as cancer and cardiovascular disease, as well as the rarest of diseases that might otherwise be difficult to diagnose.

However, there is room for improvement in the medical genetics and genomics services offered in Ireland when compared to other European countries

Patients in Ireland and their families would benefit greatly from reducing waiting times for genetic testing, training and hiring more genetic specialists, enhancing coordination between researchers and doctors, or investing our infrastructure to allow the genetics and genomics service to grow. But large-scale changes like this take time, planning, and a singular vision.

Purpose and Guiding Principles of the National Strategy

The purpose of developing a National Genetics and Genomics Strategy is to begin the process of enhancing Ireland’s Genetics and Genomics service by having a single national strategy and implementation framework encompassing care provided across acute, primary and community settings and spanning all ages.

The strategy will address issues like shortages of trained genetic specialists, knowledge gaps in the clinical workforce, the lack of genetic/genomic literacy across healthcare professionals and the public, and the policies needed to make the service ethical and inclusive. It will also propose the creation of a centralised national body with responsibility for the oversight and coordination of genetic services.

Graphic of Guiding Principles

The guiding principles underpinning this work will ensure that the National Strategy is:

  • Responsive: Given the speed at which the fields of genetics and genomics are progressing, we will remain agile and adaptable to advances in scientific knowledge and tools and their clinical and research applications
  • Ethically Grounded: The use of personal data will meet the highest ethical principles for clinical practice and research and reflect the voice of the citizens of Ireland
  • Trusted: Effective governance will ensure that Genetic and Genomic clinical services and research are delivered in a manner that fosters trust and builds public and patient confidence in precision medicine
  • Empowering: Patients and their families are empowered to make informed decisions about the use of genetic and genomic tests and health data in the delivery of their care
  • Inclusive and Accessible: Genetic and genomic services and research will be equitable, inclusive, accessible, responsive and respectful of ethical, cultural and socio-economic diversity
  • Evidence-based and Cost-effective: The translation of advancements in genetics and genomics into healthcare services will be evidence based and in the best interest of our patients while remaining cost effective and reducing waste
  • Collaborative: To advance knowledge and fuel innovation in genetics and genomics, we will work collaboratively both nationally and internationally, for the benefit of patients
  • Patient- and Family-Centred: Services will be delivered in an integrated patient and family centred manner


  1. Patient Empowerment: Patients will be empowered to shape the development of patient and family-centred services through a transparent, shared decision making process supported by enhanced public and patient education on genetics and genomics
  2. Trust and Engagement: Effective public and patient engagement will build and maintain trust and ensure transparency about the ethical framework and legislation underpinning all aspects of services delivery and research including data ownership and the informed active consent process
  3. Precision Medicine: In order for patients to benefit from advances in precision medicine, Genetics and Genomics will be integrated into normal clinical practice at all stages of the patient pathway, while ensuring equitable, timely access to high quality services
  4. Workforce and Training: A skilled workforce will deliver specialised services and the wider healthcare workforce will confidently use genetic and genomic data to support the delivery of patient care. Our staff will be supported by enhanced and responsive education and training in genetics and genomics
  5. Research and Innovation: Genetic and genomic research and innovation will help to ensure the translation of new knowledge and advances in technology into improved patient outcomes. This will simultaneously drive economic growth through collaboration and partnership with academia and industry
  6. Global Contributor: Ireland will be a key contributor to advancing genomics and genetics globally through international collaboration, trusted partnerships with industry and building the right infrastructure and secure digital platforms and analytics to drive research and innovation.

Graphic of Areas of Work of Working Groups

National Strategy Steering Group

The development of Ireland’s National Strategy for Genetics and Genomics is being led by a steering group of experts that includes representatives from a range of clinical specialties in Ireland, academic and patient representatives, and international experts in the area of genetics and genomics. The steering group is chaired by Dr Mark Bale, former Genomics Advisor to the UK Department of Health, and supported by the Strategic Programmes Office of the HSE’s Chief Clinical Officer.

In addition, four working groups (each with a diverse and specially qualified membership) have been established to deal with specific facets of the strategy:

  • Policy, Communications and Engagement
  • Data and Infrastructure
  • Workforce and Collaboration
  • Clinical Practice and Innovation 

Stakeholder Engagement

Including patients, researchers, and healthcare professionals – both within the membership of the working groups and through external engagement – in the development of this strategy has been critical to our work thus far. As part of that effort, the Strategic Programmes Office has hosted a number of interactive informational seminars that have been well-attended and well-received. You can find the recordings of these seminars at the links below.


The National Strategy for Genetics and Genomics is due to be published by the end of 2022 with implementation to follow in 2023 and beyond.

Documentation and Further Reading

Resources on Medical Genetics Testing and Related Services in Ireland


If you have any questions about the development of the strategy, please email

For press queries, please contact the HSE National Press Office by email at or by phone at 01 9213912

About the Strategic Programmes Office

The Strategic Programmes Office Strategic Programmes Office works to improve the delivery of healthcare for people in Ireland through the development and implementation of innovative new programmes that drive clinical transformation throughout the HSE. Ongoing programmes in 2023 include the development and implementation of a National Strategy for Genetics and Genomics and the continued implementation of Public Health Reform in alignment with Sláintecare priorities.

The Chief Clinical Officer (CCO) is responsible for ensuring clinical leadership, encompassing medical, nursing, midwifery and health and social care professions, at the most senior level of the organisation and works closely with National Directors, other Clinical Leads and with senior leaders within Community Healthcare Organisations and Hospital Groups to secure sustainable improvements in patient and service user outcomes, safety and experience.