Health Minister, Jennifer Carroll MacNeill TD has launched the HSE National Genomic Test Directory for Rare and Inherited Disease (Test Directory).
The development and publication of this test directory by the HSE National Genetics and Genomics Office (NGGO) aims to enhance the use of genomic tests and improve care for patients.
The Test Directory was developed in collaboration with clinical specialists and hospital laboratories and marks a significant milestone in the implementation of the National Strategy for Accelerating Genetic and Genomic Medicine in Ireland.
The Minister said, “Genomics is revolutionising medicine through personalised treatments for patients by improving disease prediction and prevention and developing innovative therapies that were previously impossible. It also aids in the early detection of genetic risk factors for conditions like cancer, diabetes, and cardiovascular diseases, and supports targeted therapies for specific cancers, which is why my department is fully committed to implementing the National Strategy on Genetics and Genomics.
“The launch of the HSE’s National Genomic Test Directory for Rare and Inherited Disease represents a key step in this transformative journey. This directory will ensure that patients receive the right test, at the right place, at the right time, and requested by the right person, and I look forward to continued collaboration between my Department and the HSE in progressing the implementation of our overall objectives under the strategy, to further improve health treatments and outcomes for patients in Ireland.”
Dr Richard Hagan, NGGO National Clinical Laboratory Director, HSE, said, “The Test Directory identifies genomic tests that can be requested by clinicians based on a set of agreed clinical indications and eligibility criteria. This evidence-based approach will enhance the use of genomic tests and improve patient care and their experience. The Test Directory will ensure that patients receive the right test, at the right place, at the right time, and requested by the right person.”
Commending the development of the Test Directory, Dr Colm Henry, HSE Chief Clinical Officer, added, “Many thanks to all the NGGO team, the Department, clinicians, patient partners and stakeholders involved. The new Test Directory marks an important first step in improving patients’ and their families’ experiences of genomic testing as part of an enhanced clinical genomic service in Ireland.”
In 2025, the NGGO, with continued support from the Department, will advance the implementation the National Strategy through developing the National Genomic Processing Service (NGPS). The NGPS will support the use of the Test Directory and will be a hub for receipt of specimens from hospitals across Ireland to refer for genomic testing by quality assured laboratories abroad. The service will also coordinate the reporting of results back to the requesting hospitals and consultants.
In the coming years, requests for genomic tests are expected to increase significantly as greater numbers of clinical specialties begin to realise the potential of genomic medicine for improved diagnosis and more targeted treatments for their patients. The Test Directory is an important first step in helping ensure patients receive the best clinical advice based on the most appropriate genomic test for their condition.
In planning and implementing further clinical and laboratory developments to enhance clinical services, the NGGO with the Department, will take steps to ensure linkages and integration with research, specifically in the context of enabling a research environment which has the potential to enhance and improve patient care.
The Test Directory is accessible on the HSE website and will:
- Deliver equitable access for eligible patients to the full range of clinically appropriate genomic tests which meet the needs and prevalence of conditions in the population.
- Provide clear detail about who is eligible for testing and where in a patient’s pathway testing should be performed.
- Indicate which technology should be used for testing and which clinicians can request testing.
- Standardise the national approach to testing and provide a systematic approach to introduce new genomic tests in the future in line with the latest research and evidence.
- This first version contains a subset of specialties (Cardiology, Ophthalmology, Lipids, Mitochondrial and Metabolic conditions) and subsequent releases will incorporate additional specialties and the associated tests.
