Genetics

Clinical genetics is a service that provides a diagnostic and information service for children, adults and their families who are concerned about a suspected or confirmed diagnosis of a genetic or inheritable disorder. The overall aim of clinical genetics is to help people live and reproduce as normally as possible. 

Diagnosis and advice

Some people are referred to us for a diagnosis; others come with a diagnosis and are seeking information about the condition, and how likely it is to affect other family members. 

We discuss the medical management of the disorder, together with advice about the other family members at risk and what the risks are, as well as the choices available to the individual and the family. Our role includes the co-ordination and onward referral of clinical screening to detect early treatable problems and the prevention of complications.

Consultations usually last between 45 and 60 minutes.  We will spend some time discussing your particular concerns, together with drawing a family tree.  Sometimes it is helpful for us to have medical details about other people in your family.  We may therefore send you a questionnaire to fill out before you come so that you have a chance to collect information on relatives.

For certain genetic conditions there are tests, some of which are available during pregnancy, and you may wish to discuss what tests are available.

An examination is often required and blood tests or other investigations may need to be arranged. This will be discussed with you and suitable arrangements made.

Some genetic conditions need specialist care and management, and this may involve further appointments with other specialists.