A national genomic processing service (NGPS) should be operational by the end of this year, the Medical Independent has been informed.
A HSE spokesperson said the national genetics and genomics office (NGGO) is in discussions to “operationalise” the service by the end of 2025.
The NGPS 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 January, the national genomic test directory for rare and inherited disease was launched by the NGGO.
The development of the test directory aims to enhance services by promoting evidence-based, equitable, and timely access to genetic and genomic tests.
This first version includes a subset of specialties (cardiology, ophthalmology, lipids, mitochondrial, and metabolic conditions). Subsequent versions will incorporate additional specialties and the associated tests.
The HSE spokesperson said the NGGO is working to have the test directory completed by 2027.
Separately, the spokesperson said there are seven staff working at the NGGO. The HSE is “working to recruit” more people this year to “enhance the skills mix” in the Office.
The National Strategy for Accelerating Genetic and Genomic Medicine in Ireland was published in December 2022. The NGGO was established in 2023 to drive the implementation of the strategy.
Earlier this year, a clinical genetics workforce report was published by HSE National Doctors Training and Planning. Based on 2024 population figures, the report estimated a need for 16 whole-time equivalent (WTE) consultants, rising to 18 WTEs by 2038. As of July 2024, there were eight consultants employed within the HSE as consultants in clinical genetics.
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