Dáil Éireann Debate, Wednesday - 27 May 2026
223. Deputy Shónagh Ní Raghallaigh asked the Minister for Health if genetic testing targeting diagnosis of those types of Ehlers Danlos syndrome identifiable by such tests will become available to the general population under the Rare Diseases Strategy 2025-2030; and if she will make a statement on the matter. [40446/26]
View answerI thank the Deputy for raising awareness of Ehlers Danlos syndrome (EDS). Genetic testing for known genetic forms of EDS is readily available through the relevant genetic testing panels (tests that examine several genes simultaneously) that can be ordered by patients' clinicians. For example, the National Centre for Clinical Genetics can receive referrals nationally and order such tests, and this service is available to all. Individual clinicians also have the flexibility to organise the tests directly themselves, via their own local hospital laboratories.
While the decision on whether there is a need for a specific genetic or genomic test in relation to a particular condition would be made at a clinical level, actions are being taken by my Department to create a more inclusive healthcare service that meets the complex needs of people living with rare diseases.
My Department is working closely with the HSE's National Genetics and Genomics Office as it works to implement the National Strategy for Accelerating Genetic and Genomic Medicine in Ireland. Our 2025 Programme for Government includes a commitment to resource the National Strategy for Accelerating Genetic and Genomic Medicine, and this will put in place the resources, processes, and infrastructure to deliver future-proof and equitable genetic and genomic services to the entire population of Ireland.
A number of key deliverables within the strategy are directly relevant: Firstly the National Genomic Test Directory was launched at the end of 2024 with a specific focus on rare diseases, and EDS is considered a rare disease. The Test Directory will reduce pressure on testing services by limiting unnecessary test requests, returning results more rapidly to clinicians, and helping to speed up the diagnosis of rare disease patients. Furthermore, the National Genomic Processing Service launched earlier this year, which will support significantly more efficient management and movement of patient samples between the clinic and testing laboratories, again contributing to a faster and more streamlined system.
The HSE is also expanding the clinical genetics workforce, and enhancing our bioinformatics infrastructure to handle the ever-growing volumes of genetic and genomic testing data. Together, these actions will support increased quality of care and improve the rate of diagnoses for patients living with rare diseases, regardless of location or background.
The Deputy may wish to note that I launched the National Rare Disease Strategy 2025-2030 on 27th August 2025. This landmark strategy sets out a vision to improve the lives of the estimated 300,000 people living with rare diseases in Ireland. It outlines a comprehensive framework designed to enhance diagnosis, treatment, and support for people living with rare diseases, aiming to improve quality of life, promote equitable access to healthcare, and foster innovation in rare disease research and treatment.
The National Rare Disease Strategy's 11 recommendations also emphasise the importance of developing and enabling earlier diagnosis, integrated care, data and registries, research and innovation, and access to orphan medicines. By addressing these areas, the Strategy aims to create a more inclusive healthcare service that meets the complex needs of people living with rare diseases.
Furthermore in Recommendation 3, in relation to Screening and Diagnosis, the Steering Group recommends the expansion of screening, diagnostics and genetic counselling services in line with best practice to reduce the time to diagnosis, allow timely access to treatment and research/trial opportunities, and ensure people living with rare diseases and their families are fully informed. This includes supporting the implementation of the 2022 National Strategy for Accelerating Genetic and Genomic Medicine in Ireland as it relates to rare diseases.
