Genetics

Clinical genetics is a diagnostic and counseling service for individuals and families concerned about the suspected or confirmed diagnosis of a genetic disorder. There are a number of reasons why people ask to be referred to the genetics service, or why their doctor thinks that they should be referred. These include:

• People with a genetic condition (either themselves or in their family), who wish to know about the risks to themselves and their children.
• People with a family history of cancer who wish to know the risks to themselves and want to find out about their options.
• Couples who have had a pregnancy loss due to a genetic condition, or who have a child with a genetic condition, who wish to know the chance of it happening again.
• A child with problems such as learning difficulties or congenital anomalies (e.g. heart defects) that may have a genetic basis. If a child has lots of problems, a geneticist may be asked if there is one genetic diagnosis that may explain all these problems.
• People with an abnormal result from a genetic test (e.g. chromosome analysis) that was organized by a hospital specialist, obstetrician or GP and which needs further explanation by an expert.
• A child with a biochemical (i.e. metabolic) disorder that may be genetic. In such cases, information or management may be provided by a multidisciplinary team including doctors and dieticians.
  
  

  Genetic general and cancer clinics are held weekly by the team of Genetic Associates. A Consultant Geneticist from the Regional Genetics Service provides a weekly clinic. Patients are contacted by letter and asked to telephone the department to arrange a 'pre-clinic telephone appointment'. This helps to identify relevant family medical history and discuss any questions and concerns to optimize the clinic appointment.