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
these disorders are inherited and how likely they are to happen in a family.

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:
? has a condition which might be passed on to your children
? has had a child or family member with a birth defect, developmental delay or a condition which may be genetic
? are related to each other (eg cousins) and intend to have children
? is a woman aged 35 years or over who is pregnant or planning a pregnancy
? has had three or more miscarriages
? have had ultrasound markers or fetal abnormalities detected in a pregnancy
? has had a positive screening test in pregnancy such as the triple test or nuchal translucency screening
? has been exposed to teratogens (eg infection, prescription or illicit drugs, alcohol) during a pregnancy
? has two or more relatives who have had cancer at a young age (please complete our questionairres and return them to us if this applies to you)
? belongs to a particular ethnic group that is at risk for certain genetic diseases (eg Ashkenazi Jewish, Asian Indian)

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.


Genetic Counselling Clinics

Research Projects

MSc(Med) Genetic Counselling Degree

Primary specialty training in Medical Genetics

Staff

Prof Arnold Christianson MBChB, FRCP Edin, Principal Specialist
(011) 489-9239

Prof. Amanda Krause MBBCh, Ph.D. Clinical Director
(011) 489-9219

Ms Tina-Mari?essels BSc Hons, MSc (Med), Genetic Counselling Manager
(011) 489-9243

Dr Louisa Bhengu MBBCh, FCP (Paeds), Medical Geneticist
(011) 489- 9207

Dr Nerine Gregersen MBBCH, FCP (Paeds), Medical Geneticist
(011) 489-9216

Ms Tabitha Haw BSc Hons, MSc (Med), Genetic Counsellor
(011) 489-9233

Ms Justine Bee BSc Hons, MSc (Med), Genetic Counsellor
(011) 489-9230

Sr Merlyn Glass RN, RM, DipPaed, Genetic Nurse Counsellor
(011) 489-9603

Dr Lindsay Lambie MBBCh, DCH(SA), FCPaed(SA), Medical Geneticisit
(011) 489-9902

Dr Karen Milstein MBBCh, BSc(Hons), Clinician
(011) 489-9230

Ms Brenda Kruger Bsc Hons, MSc(Med), Genetic Counsellor
(011) 489 9362

Dr Elaine Beckh-Arnold MBChB(UNZA), DCH(SA), FCPaed(SA), Medical Geneticist
(011) 489-9902

Ms Chantel van Wyk Bsc Hons, Genetic Counselling Intern
(011) 489 9362

Ms Caryn Todd MSc(Med), Genetic Counselling Intern
(011) 489 9362

Ms Shelley Macaulay MSc(Med), Genetic Counselling Intern
(011) 489 9362

Sr Thandi Zwane Community Research Nurse
(011) 489-9195

Mrs Zainoenisa Jakoet (Zain). Departmental Secretary, Medical Genetic Services
Tel: (011) 489-9224
Fax: (011) 489-9224
zain.jakoet@nhls.ac.za

 

Fellows in Medical Genetics

Dr Hester van der Walt MBChB(Stell), DCH, MMed Paed(UOFS), Registrar in Medical Genetics
(011) 489 9338

Genetic Counselling Students

Ms Noelene Kinsley, BSc Hons
(011) 4899362

Ms Suretha Erasmus, BSc Hons
(011) 4899362


Medical Officers

Dr Betsie Fourie, MBChB (UFS), Dip HIV Man(SA), Medical Officer

Dr Tamara Jaye, MBBCH, Medical Officer