Specialised NHS genetic services have developed in the UK as regional centres of expertise, and in the northern region these are co-ordinated through the Northern Genetics Service which is part of the North East and Yorkshire Genomic Medicine Service Alliance.
The Northern Genetics Service helps to diagnose conditions and disorders caused by genetic problems for people living across the whole of the North East and Cumbria.
Clinics are held in Newcastle, Carlisle, Sunderland and various locations around County Durham, Teesside and part of North Yorkshire, in addition to telephone and telemedicine appointments.
Many of our genetic experts here in the North East are nationally and internationally renowned for their pioneering work, with significant global reputations for the care of patients with rare diseases.
By working in close collaboration, clinicians, scientists and researchers from the Northern Genetic Service and Newcastle University’s Institute of Genetic Medicine are spearheading potentially life-changing translational research programmes (from bench to bedside) to better understand our genetic make-up and its links to our health.
For example, our kidney experts host The National Renal Complement Therapeutics Centre which specialises in the treatment of patients with atypical haemolytic uraemic syndrome (aHUS) and C3 glomerulopathy (C3G).
Disorders caused by underlying genetic problems can include:
- chromosomal abnormalities which may be associated with problems in either individual development and/or familial reproductive problems
- single gene disorders such as muscular dystrophy, Huntington’s disease and cystic fibrosis
- familial cancer and cancer-prone syndromes such as inherited breast or colorectal cancer
- birth defects and/or learning disabilities with a genetic component.
What we do
Most of the medical conditions we see are rare inherited conditions (congenital). We seek to explain why an inherited condition has happened, whether it could happen again and what can be done about it.
We also provide expert support to help families come to terms with a new diagnosis. Some of our skills include:
- investigating and diagnosing congenital abnormality
- investigating and diagnosing abnormalities of growth or development in childhood
- coordinating prenatal diagnosis for a genetic conditions known to run in the family
- helping to explain fetal abnormality, either on genetic testing or ultrasound scans
- carrying out risk assessment in people with a strong family history of cancer
- diagnosing and advising on the management of many different genetic conditions, including conditions that affect the brain, eye, lung, heart, blood vessels, kidney, skeleton and joints (and many more) kidney
- helping people to understand their family history of a genetic condition and help them to clarify their own risks
- offering testing for carrier status of single gene or chromosomal conditions, including pre-symptomatic / predictive gene testing and provide support for people and families going through this process.
Our nurse specialists and counsellors provide support for people and families going through this process, and all other forms of genetic testing.
Being referred to our services
If you need to be referred to the Northern Genetics Services by a doctor, you will generally only be referred if you or a close relative have a suspected genetic health condition or if you have a particular type of cancer, or a family history of cancer.
Self-referral is only permissible if you are a member of a family with an existing diagnosis and we have suggested that it might be appropriate for you to be seen. In that situation you will have been handed a letter from us by one of your relatives.
Northern Genetics Service
Newcastle upon Tyne
Telephone: 0191 241 8600
Email: General enquiries