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Medical Genetics Services

  • The clinical section provides clinical genetics services predominantly to the teaching hospitals of the University of the Witwatersrand, and through limited outreach to a broader area. Most of the medical genetics service is performed as an out-patient service. Thirteen different genetic clinics are run at Charlotte Maxeke Johannesburg Academic Hospital, Chris Hani Baragwanath Hospital, Rahima Moosa Mother and Child Hospital, and Helen Joseph Hospital. Patients and families with a broad range of genetic diseases are seen through these clinics. Paediatric and adult cancer, Huntington disease, foetal medicine and other disease-specific clinics are held.
  • A clinic for private patients is also run through the Division at the Donald Gordon Medical Centre.
  • A small number of in-patients are seen on a call-out basis at State and private facilities. These are generally ill patients who cannot attend an out-patient clinic. Fetuses with abnormalities are also examined on a call-out basis in the academic hospitals in the Johannesburg region.
  • Patients are seen with a wide range of birth defects and known or suspected genetic disorders. Antenatal, paediatric and adult cases are seen.

Genetic Counselling Services

What is genetic counselling?

Genetic counselling can help you make well-informed decisions about your own health and the health of your family.

  • Many conditions tend to run in families.
  • These hereditary conditions may be passed on from parents to their children. Some genetic conditions occur only once in a family.
  • Geneticists can give information about how these disorders are inherited and how likely they are to occur in a family.
  • The process of genetic counselling addresses concerns relating to the development or transmission of an inherited disorder or birth defect. The medical diagnosis, prognosis, the genetic basis and recurrence risks of the presenting disorder are dealt with at a genetic counselling consultation.
  • Genetic counselling also provides families with care and management options. In many cases a geneticist can reassure families that there is no particular risk or that the risk is much less than they feared.

Who offers genetic counselling?

A multidisciplinary team of geneticists, including genetic counsellors, genetic nurses, medical geneticists, and medical officers are involved in our genetic counselling clinics.

Who should have genetic counselling?

You may benefit from genetic counselling if you and/or your partner:

  • Has a genetic condition which might be passed on to your children
  • Has had a child or family member with a birth defect or developmental delay
  • Has a condition in the family which may be genetic
  • Are related to each other (e.g. cousins) and intend to have children
  • Is a woman aged 35 years or older who is pregnant or planning a pregnancy
  • Has had three or more consecutive first trimester miscarriages
  • Has had a pregnancy in which ultrasound markers (e.g. increased nuchal translucency) or fetal abnormalities have been detected
  • Had a positive maternal serum screen in pregnancy
  • Has been exposed to teratogens (e.g. infection, prescription or illicit drugs, alcohol) during a pregnancy
  • Is concerned about your family history of cancer
  • Has cancer at a young age
  • Belongs to a particular ethnic group that is at risk for certain genetic conditions (e.g. Ashkenazi Jewish, Afrikaner, Asian, Indian)

What happens at a genetic counselling consultation?

  • The geneticist will discuss your reasons for attending the genetic counselling session as well as your concerns.
  • You will be asked to provide details of your family’s medical history and a family tree will be drawn.
  • The geneticist will try to make or confirm a diagnosis and explain the management and implications of the genetic condition. 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.
  • If appropriate, the options regarding testing for the condition, and the limitations of testing will be discussed in detail.
  • The geneticist 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.

What should I bring to the consultation?

  • Please bring as much information as possible about your family’s medical background. Doctors’ letters and reports are often helpful.
  • When there is a family history of a condition, photographs, maiden names, and dates of birth of affected family members are particularly useful.
  • Your partner or a support person is welcome to join you at the consultation.

Who should I contact for genetic counselling?

Genetic counselling clinics are held at the following hospitals:

  • Charlotte Maxeke Johannesburg Academic Hospital (CMJAH)
  • Rahima Moosa Mother and Child Hospital (RMMCH)
  • Chris Hani Baragwanath Academic Hospital (CHBAH)
  • Helen Joseph Hospital (HJH)
  • Donald Gordon Medical Centre (DGMC)