Ireland's newly unveiled Genomic Test Directory is intended to streamline genetic testing across Ireland, it aims to provide patients with more accurate and timely diagnoses, enhancing treatment options and supporting the growing role of genomic medicine in healthcare.
Irish Minister for Health, Jennifer Carroll MacNeill, recently announced the launch of the HSE National Genomic Test Directory for Rare and Inherited Disease (Test Directory).
The development and publication of the Test Directory by the HSE (the Health Service Executive) National Genetics and Genomics Office (NGGO) will enhance the use of genomic tests, ultimately improving patient care.
As part of the National Strategy for Accelerating Genetic and Genomic Medicines - Ireland’s first unified approach to genetics and genomics services - the Test Directory is a crucial first step in ensuring patients receive the best clinical guidance based on the most appropriate tests for their condition.
"The launch of the HSE's National Genomic Test Directory for Rare and Inherited Disease today 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 (…),” Irish Health Minister Jennifer Carroll MacNeill stated.
The Test Directory and National Strategy will cover care across acute, primary, and community care settings, benefiting people of all ages.
"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 (…),” said MacNeill.
The HSE told Euractiv that the Test Directory will specify the most suitable genetic or genomic tests for each clinical indication, establish patient eligibility criteria, identify the appropriate point in the clinical pathway to request the test, and determine which clinical specialities can make the request.
The introduction of the National Genomic Test Directory is seen as a significant step forward in improving access to genomic testing for people living with rare and inherited conditions in Ireland.
“By providing a standardised list of available genomic tests, the Directory will help to ensure that patients, healthcare professionals, and researchers have clear guidance on what tests are accessible within the public healthcare system,” Claire Stone, General Manager of Irish Platform for Patient Organisations, Science and Industry (IPPOSI), told Euractiv.
She added: “This improves consistency in decision-making, reduces uncertainty for patients, and facilitates earlier and more accurate diagnoses, all of which are critical for timely, appropriate and quality care.”
To meet patient needs, clinical laboratories in Ireland often outsource genetic and genomic testing to external laboratories outside of Ireland.
“The development of a National Genomic Processing Service (NGPS) for the pre-and post-analytical aspects of delivering the Test Directory for samples sent outside of Ireland is a fundamental deliverable of the National Strategy for Accelerating Genetic and Genomic Medicine in Ireland,” the HSE said.
Implementing the Test Directory for Rare and Inherited Disease and the NGPS aims to help mitigate patient, operational, and financial risks while clarifying appropriate tests for each clinical indication and eligibility criteria.
According to the HSE, the Test Directory and the services delivered through the NGPS will secure equitable access for patients to the full range of clinically appropriate genomic tests available in the Test Directory.
“There will be no additional costs for patients. Publication of the Test Directory for Rare and Inherited Disease will not change the current arrangements for testing through public hospitals in Ireland,” the HSE confirmed.
IPPOSI has welcomed the implementation of the National Strategy for Accelerating Genetic and Genomic Medicine and perceives the Test Directory’s launch as an important milestone in fulfilling the strategy’s goals of improving access, advancing expertise, and incorporating genomics into routine healthcare.
“Equitable access to genomic testing remains an important concern, as patients in different parts of Ireland may currently experience variations in referral pathways, diagnostic waiting times, and access to specialist expertise,” IPPOSI General Manager Claire Stone continued.
According to Stone, tackling these disparities will require sustained, long-term investment in regional healthcare infrastructure, workforce capacity, and digital systems to support the effective use of genomic data.
“IPPOSI strongly advocates for ensuring that all patients, regardless of their geographic location, can benefit equally from advancements in health innovation, including in genetic and genomic medicine,” she added.
The HSE anticipates a significant increase in requests for genomic tests in the coming years as more clinical specialities recognise the potential of genomic medicine to enhance diagnosis and enable more targeted treatments for patients.
“The National Genetics and Genomics Offices, through implementation of the strategy, are working to develop a future-proof, scalable national model for genetic and genomic testing, bioinformatics, and data management,” the HSE press officer concluded.
