Medical Genetic and Counselling Services
WHAT IS GENETIC COUNSELLING?
Many conditions or disorders tend to run in families. These hereditary (or genetic) conditions may be passed on from parents to their children. Some genetic conditions occur only once in a family. Genetic counsellors can give information about how
Genetic counselling is a process whereby individuals and their families are assisted in addressing their concerns relating to the development or transmission of an inherited (or genetic) disorder or a birth defect. The medical diagnosis, prognosis, the genetics and recurrence risks of the presenting disorder are dealt with at a genetic counselling consultation.
Genetic counselling also aims to provide families with options to deal with their risks and manage the disorder in the best possible way. The genetic counsellor will talk about coping with the condition and can refer families or individuals to appropriate social support structures.
In many cases a genetic counsellor can reassure families that there is no particular risk or that the risk is much less than they feared.
WHO DOES GENETIC COUNSELLING?
A multidisciplinary team including medical geneticists, medical officers and genetic counsellors are involved in our genetic counselling clinics.
WHO SHOULD HAVE GENETIC COUNSELLING?
You may benefit from genetic counselling if you or/and your partner:
WHAT HAPPENS AT A GENETIC COUNSELLING SESSION?
The genetic counsellor will discuss your reason for seeking counselling and your concerns. You will be asked for details of your family?s medical history and a family tree will be drawn.
The genetic counsellor will try to make or confirm a diagnosis and explain the management and implications of the genetic diagnosis. S/he will also explain the inheritance pattern of the condition to you.
The risk that you may have a child with a particular condition can be estimated and explained. The options for testing for the condition and the limitations of testing will also be discussed in detail if appropriate.
The genetic counsellor will discuss ways of coping with the condition and refer you to other medical and social support systems available. S/he will attempt to identify community resources that may be helpful.
Genetic counselling can help you to make well-informed decisions about your own health and the health of your family.
WHAT SHOULD I BRING TO THE CONSULTATION?
Please bring as much information as possible about your family?s medical background such as doctor?s letters and reports if they are available.
When there is a family history of hereditary disease, photographs, maiden names and dates of birth of affected family members are particularly useful.
Your partner or a support person is welcome to come with you to the consultation.
Prof Arnold Christianson MBChB, FRCP Edin, Principal Specialist
Mrs Zainoenisa Jakoet (Zain). Departmental Secretary, Medical Genetic Services
Fellows in Medical Genetics
Dr Hester van der Walt MBChB(Stell), DCH, MMed Paed(UOFS), Registrar in Medical Genetics
Genetic Counselling Students
Ms Noelene Kinsley, BSc Hons