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.
The Test Directory is composed of Clinical Indications set out in parts, including:
- Acutely Unwell Children
- Audiology
- Cardiology
- Dermatology
- Developmental Disorders
- Endocrinology
- Fetal (including NIPD)
- Gastrohepatology
- Haematology
- Immunology
- Inherited Cancer
- Lipids
- Metabolic
- Mitochondrial
- Mosaic & Structural Chromosomal disorders
- Multi-Purpose Tests
- Musculoskeletal
- Neurology
- Ophthalmology
- Renal
- Respiratory
- Ultrarare and atypical monogenic disorders
Somatic (cancer) genetic tests are not included in the Test Directory for rare and inherited disease. Comments on the Test Directory can be submitted to the NGGO using the test directory feedback form (doc, size 53KB, 1 page)
At the end of 2023 the NGGO began holding introductory meetings and workshops with the various clinical specialties and received initial feedback from these groups. Most specialties have concluded the initial feedback process, whilst the remaining specialties will be contacted as part of a further round of engagement.
Following on from this the NGGO began to work more closely with three specialties for inclusion in the first version of the Test Directory (Cardiology, Metabolic Medicine, Ophthalmology). This process took 6 months and it is envisaged that future expansions will each take an estimated 4 – 6 months. For samples sent abroad for genetic or genomic testing, the development of a centralised National Genomic Processing Service (NGPS) for the pre-and post-analytical aspects of delivering the Test Directory is a phase in the development of genomic laboratory services and the implementation of the Strategy.
As the Test Directory expands the National Genomic Processing Service will be made available to the additional specialties. This phased expansion is expected to take 24 months from publication of version 1 with a proposed date of end December 2026 for publication of the ‘complete’ Test Directory containing all the parts listed above. Each phase will include 3 – 5 additional parts. In version 2 the NGGO aims to include another four parts to the Test Directory (Audiology, Dermatology, Endocrinology, Renal). The specialties to be included in each additional version will be confirmed with updates. Any queries regarding specialties inclusion or expressions of interest in participation should be directed via email to the NGGO at Genomics.Office@hse.ie
