Clinical genetics

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.

Operated by University Hospitals Bristol NHS Foundation Trust from a central department based at St Michael's Hospital, the service has a satellite department at Gloucestershire Royal Hospital.

• 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

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. The Clinical Genetic 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.

More information is available at: www.uhbristol.nhs.uk