Emer Currie (Dublin West, Fine Gael)
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307. To ask the Minister for Health to outline the progress made to date in delivering the national bioinformatics roadmap, including key milestones achieved; to provide details on the current number of full-time equivalent bioinformaticians employed in the National Genetics and Genomics Office; and if she will make a statement on the matter. [30875/25]

Emer Currie (Dublin West, Fine Gael)
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308. To ask the Minister for Health to outline the roll-out plan and associated timelines for the genetics data infrastructure roadmap, including expected phases of implementation, target milestones, and how this will support national genomics capacity; and if she will make a statement on the matter. [30876/25]

Emer Currie (Dublin West, Fine Gael)
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309. To ask the Minister for Health to provide an update on the implementation of the first phase of the national test directory for rare diseases, which was launched in January 2025; whether the directory reflects the priority rare conditions identified by an organisation (details supplied) and clinical experts in the field; to outline the extent of its current usage by clinicians and services; which of the gene panels included are specifically for rare diseases; and if she will make a statement on the matter. [30877/25]

Emer Currie (Dublin West, Fine Gael)
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310. To ask the Minister for Health if the National Genetics and Genomics Programme has been opened to a formal procurement process involving all competent service providers, both public and commercial; if not, whether preferred bidders have been identified or announced prior to a transparent and competitive tendering process being undertaken in line with public procurement rules; and if she will make a statement on the matter. [30878/25]

Jennifer Carroll MacNeill (Dún Laoghaire, Fine Gael)
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I propose to take Questions Nos. 307 to 310, inclusive, together.

Harnessing the power of genomics for improved patient outcomes requires a supporting infrastructure to collect, test, store, process, analyse and report on samples for both patient care and research. Bioinformatics and genetic data infrastructure and data storage needs to be secure, scalable, accessible and with an analytic capacity to support genomics testing and clinical service delivery. In 2025 the NGGO is working to progress a harmonised Bioinformatics and Genetic Data Infrastructure Roadmap. This Roadmap will set out the requirements and coordinated timelines for the delivery of the bioinformatics and data infrastructure in line with the Strategy’s vision and HSE’s Digital Health Strategic Implementation Roadmap. With funding received from the 2025 National Service Plan the NGGO is in the process of recruiting a National Bioinformatics Director and will look to recruit additional bioinformatics support later this year.

The National Strategy for Accelerating Genetic and Genomic Medicine in Ireland (the Strategy) sets out a vision for an enhanced laboratory infrastructure that will see Ireland providing most of the genomic testing for its population. Data infrastructure to manage the volume of data generated from genomic testing and to enable bioinformatic interpretation of this data is a key component of the required laboratory infrastructure. Implementation of the Strategy will include the development of a centralised solution for delivering genomic testing and bioinformatics, which will sit under the governance of the HSE. A single centralised laboratory for all genomic testing will present an opportunity for future proofing Ireland’s genomic testing capabilities. The laboratory infrastructure will support on-going research and data generated within the centre will be a resource for researchers. This aligns with the participation of the National Genetics and Genomics Office (NGGO) in working groups for the 1+ Million Genome (1+MG) Initiative, a European collaboration that encourages Member States to share and learn from each other’s experiences in this rapidly evolving field.

The development of a National Genomic Test Directory for Rare and Inherited Disease (Test Directory) was identified as a way forward in enhancing genetic and genomic clinical services by promoting evidence based, equitable, and timely access to genetic and genomic tests. Through a series of collaborative workshops with clinical specialists and their laboratory colleagues, the NGGO worked to identify the appropriate test, requesting specialties and clinical indications relevant to the population of Ireland and the Irish health care system. Version 1 of the Test Directory includes tests for clinical indications for rare and inherited disease from the specialties of Cardiology, Lipids, Metabolic, Mitochondrial, and Ophthalmology. Clinicians and laboratories can use the Test Directory to identify the most appropriate genomic test for a clinical indication they may be investigating.

In implementing the National Strategy and where procurement of services is deemed necessary, the process is governed by the Office of Government Procurement's guidelines to ensure transparency, efficiency, and value for money.