Expanding Rare Disease Services In Wales
Sian Corrin 2
The All Wales Medical Genomics Service has a dedicated team of staff delivering comprehensive rare disease genetic services which includes laboratory diagnostic and research services to deliver a growing range of genetic tests to inform and support the diagnosis of rare diseases and the further clinical care of our patients. AWMGS also provides specialist prenatal and postnatal genetic counselling services for patients and families with a range of rare disease types including those involving features of neuromuscular disease, cardiac conditions, epilepsy, cortical brain malformation syndromes, ectodermal dysplasia, tuberous sclerosis and congenital abnormalities. Most recently the service has implemented the rapid whole genome sequencing service, the Wales Infants’ and childreN’s Genome Service (WINGS), to enable a rapid diagnosis for seriously unwell children.
The laboratory constitutional services team are managed by Consultant Clinical Scientist Sian Corrin, FRCPath. The team laboratory and clinical teams work closely with those in the areas of obstetrics and gynaecology, pathology, clinical biochemistry, clinical haematology, cardiology, paediatrics, neurology and immunology and researchers to help direct testing strategies, aid in the interpretation of genomic testing and to develop cutting edge genomic services, ensuring highest quality of care for patients. The Clinical Genetics Service is managed by Dr Alex Murray.
Welsh Government (WG) and the Welsh Health Specialised Services Committee (WHSSC) agreed in April 2019 to increase funding for rare disease services to facilitate expansion of genomic tests available for patients and their families with rare diseases in Wales, assisting to continuously improve patient care.
To view the full range of tests provided by this service area, please click here.

Developmental Disorders Section
The Developmental Disorders team provides services for children and adults with neurological disorders. A genomic diagnosis for these patients provides information on prognosis, can avoid unnecessary investigations, may inform treatment decisions and can provide answers and guidance to the patient and their families through genetic counselling. The Developmental Disorders team offer a range of specialist tests for referral indications such as intellectual disability, developmental delay, epilepsy and brain malformations.
Developmental Disorders services include:



- Clinical exome based gene panels for epilepsy, intellectual disability and cortical brain malformations
- Chromosomal microarray testing
- Fragile X testing
- Bespoke fluorescence in situ hybridisation (FISH) and quantitative real-time PCR (qPCR) assays for copy number detection in diagnostic and familial testing
- Predictive analysis and prenatal diagnosis for rare disorders relating to epilepsy, intellectual disability and cortical brain malformations




Specialist Rare Disease Services Section
Our specialist rare disease services team offers a wide range of rare disease testing within the laboratory. We work closely with NHS colleagues from a number of clinical specialities including clinical genetics, neurology, haematology, ophthalmology and cardiology.
We provide testing for core genetic services such as cystic fibrosis (CF), Huntington’s disease, spinal muscular atrophy (SMA) and Duchenne muscular dystrophy, however we also offer testing for a number of rarer genomic disorders including porphyria and Parkinson’s diseases. We provide a number of NGS panel tests including ectodermal dysplasia and primary immunodeficiency panels.
In 2018 the NHS England National Genomic Test Directory was published. All tests listed in the test directory are available to Welsh patients and over the coming years, the section is planning to introduce a wide range of these tests within the AWMGS.



Reproductive and Neonatal Genomics Services Section
The Reproductive and Neonatal Genomics Services team offers a range of specialist tests as part of investigations performed on prenatal, postnatal and post-mortem samples. Testing methods utilised by the section include both traditional cytogenetic and molecular cytogenetic based tests and whole genome sequencing. The team works closely with colleagues from the Prenatal Clinical Genetics Service and with Fetal Medicine, Fetal Pathology and Paediatric departments across Wales.
The section provides testing for the following;
Neonatal investigations for indications including; failure to thrive, hypotonia and congenital abnormalities
Prenatal Screening by Non-Invasive Prenatal Testing (NIPT) for the common trisomies (trisomy 13, 18 and 21) as part of the National Screening Programme in Wales
Prenatal Diagnosis on invasive samples (amniotic fluid, chorionic villus) obtained for indications including; increased serum screening risk, known parental chromosome rearrangement or the presence of fetal abnormalities on ultrasound scan
Pregnancy loss – on post-mortem fetal tissue/products of conception samples from non-viable pregnancies where either fetal abnormalities are present or the pregnancy loss is the patient’s third or subsequent miscarriage
Family history of a chromosome rearrangement
Disorders of sexual development
Unexplained infertility
Post-mortem investigations into the cause of sudden infant death (SID)

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