Clinical Genetics is a medical discipline specialising in the diagnosis and management of conditions with a known or probable genetic basis. Genetic disorders occur across the whole lifespan and may affect multiple family members and generations. Families often require both specialist diagnosis and health management.
We work with our laboratory colleagues and clinical colleagues from a variety of medical specialties across Greater Manchester and the North West region.
Clinical staff in the department are affiliated to one or more clinical teams. Clinical teams comprise of doctors, genetic counsellors, nursing staff and other health professionals. Further information about these specialised services can be found in this section of the website.
The aim of Medical Genetic services (clinical and laboratory) is to provide a patient centred, specialised service focussed on the provision of accurate diagnosis and advice to promote improved clinical management and quality of life for those affected by, or at risk of, a genetic condition or congenital abnormality. Individuals and families are helped to understand their condition, its implications, and their options with regard to reproduction, screening, prevention and management.
Genetic disorders can affect any body organ or system and include:
- Chromosomal anomalies, including deletions/duplication or balanced/complex rearrangements
- Single gene disorders, e.g. muscular dystrophies, dysmorphic syndromes, inherited cardiac conditions, skeletal and connective tissue disorders and neurological conditions, across all ages
- Familial cancer syndromes
- Congenital anomalies, including non-genetic and teratogenic anomalies
- Learning disability with or without autism/congenital anomalies
- Common adult disorders with a single gene aetiology
In Clinical Genetics, the fundamental unit of responsibility is the ‘family’ and includes not only the affected individual who presents for diagnosis and treatment, but also relatives who are identified as being at risk. For example, whilst an individual who presents with ill health needs to be diagnosed and treated within a traditional NHS model, the awareness of family and the relationships within it ensures that the ‘at risk but well’ relatives can be managed appropriately, offering the opportunity for predictive and carrier testing, screening, early intervention and prenatal/preconception genetic counselling.
Clinical Genetics services aim to provide integrated clinical and laboratory services that are equitable, safe, efficient, appropriate, accessible and acceptable to all sectors of the community and of a demonstrably high quality.
Each service includes:
- Diagnosis or exclusion of genetic disorders and congenital malformations
- Investigation and genetic risk assessment
- Provision of information
- Predictive genetic testing
- Discussion of reproductive options
- Initiation and coordination of health surveillance and screening for genetic conditions
- Co-ordination of interventional management in specialist or multi- disciplinary clinics
- Management of the extended family
- Maintenance of genetic family disease specific records
- Liaison with genetic laboratories
- Participation in local and national genetic networks
- Education and training of genetic and other healthcare professionals
- Acting as an expert resource to all health professionals
- Audit of clinical services
- Research – clinical, biomedical, psychosocial and service related
