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Clinical Genetics Service

The Clinical Genetics Service has a central department at St Michael's Hospital in Bristol and satellite units at the Royal United Hospital in Bath, the Gloucester Royal Hospital in Gloucester and Musgrove Park Hospital in Taunton.

Key updates

The British Society for Genetic Medicine have developed information leaflets on COVID-19 to support patients with rare genetic disorder and their families and carers, which can be accessed here.

Aims of the service

The Clinical Genetics service aims to provide people affected by, or at risk of a genetic condition with accurate information, counselling support and genetic testing as appropriate to each individual. 

The objectives of the service are:

  • To assist with making an accurate diagnosis of a genetic condition within the family
  • To arrange and interpret genetic tests
  • To provide full and accurate information to families about the condition
  • To give information to families about the risks of the condition occurring in themselves or in their offspring, and the tests available to them
  • To provide genetic counselling support
  • To refer families to other professionals if appropriate 
  • To facilitate research opportunities for patients and families related to the cause and impact of genetic conditions

Genetic counselling

Because diagnosis and testing will often have an impact on the wider family, the genetic counselling process includes an explanation and risk assessment with any available options for family members.

Situations where genetic counselling may be appropriate include:

  • Where a genetic disorder is known or suspected. This can include many adult or paediatric conditions such as neurological and cardiac conditions or a strong family history of cancer
  • After the birth of a baby who has health problems caused by a genetic condition
  • After recurrent miscarriage, stillbirth, or death of a baby, particularly if the baby was found to have physical problems
  • Where a child within the family has delayed development, particularly if the child also has other health problems or unusual physical features 

It may take time to adjust to new diagnoses and to decide on the best possible course of action. Our team will provide up-to-date information. We suggest requesting a review appointment when the affected person and family members reach reproductive age, and before a new pregnancy. Please note that testing, risk-reducing options and research opportunities change over time.

Specialist services

Joint clinics (genetics and other specialties) include:

  • Genetic Eye Clinic (Ms Kathryn Billet, Miss Churchill) 
  • Skeletal Dysplasia Clinic (Prof Smithson/Dr Burren/Mr Turner) 
  • Highly Specialised Osteogenesis Imperfecta (OI)  Service  (Dr Burren/Prof Smithson/Mr Thomas/ /Dr Clinch/Specialist Therapy Team)
  • Barth NHS National Specialised Service (Multidisciplinary team-Dr Pierre/Dr Chronopoulou/DrTunstall/Dr Pieles/Professor Newbury-Ecob/Sarah Buston/Miss Hayley Smith/Liv Benett (administrator) /
  • Inherited Cardiac Condition Service (Dr K Low, Professor R Newbury-Ecob, Dr G Stuart, Dr S Curtis, Ms Nina Edwards)
  • Paediatric Renal Genetics Clinic (Dr L Bownass/Dr C Platt)
  • SW Cleft Service-complex orofacial clefts and craniofacial malformation syndromes (Prof Smithson)

Research

Our team is actively involved in recruiting to genetic research studies, including the 100,000 Genomes Project (as part of the West of England Genomic Medicine Centre), and a number of other studies related to specific genetic conditions and cancers.