genetic
counselling
Genetic counselling is “the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease” ~ Resta, Biesecker, Bennett, et al., 2006
what is genetic counselling?
Many conditions tend to run in families. These inherited (genetic) conditions are either passed on from parents to their children or may occur for the first time in an individual (“de novo”). Genetic counsellors are specially trained individuals who meet with individuals who have or are at risk of a genetic condition.
Genetic counselling incorporates both:
Education
about inheritance, testing, management, prevention, resources, and research of the genetic condition
Counselling
to promote informed choices and adaptation to the risk or condition.
Genetic counselling is non-directive. This means that the genetic counsellor will provide you with all the relevant information in a non-biased way to enable you to make your own informed choices related to health care for you or your child and decisions about starting a family or having another child.
Is a genetic counsellor a doctor?
No. Genetic counsellors are trained professionals who have a Master's degree in Genetic Counselling, have completed a two-year internship and are registered with the Health Professions Council of South Africa. Genetic counsellors are not able to make diagnoses.
Genetic counsellors work in conjunction with clinical geneticists who are medical doctors who have specialised in human genetics. Clinical geneticists perform clinical examinations and order laboratory tests to diagnose patients.
In a typical genetic counselling session, the genetic counsellor will ask questions about your family and medical history. They will then explain the genetic basis of the condition that has been diagnosed in you/your family, including how it happened and the chances of the condition happening in the family again.
The genetics is explained in a way that is understandable, so that you feel empowered at the end of the session and are able to make informed choices. If appropriate, the options regarding genetic testing for the condition, and the limitations of testing will be discussed.
Attention is also given to your psychological well-being and the genetic counsellor will discuss ways of coping with the condition and refer you to other medical and social support systems, if applicable and as may be available.
what happens in a genetic counselling session?
do I need to go for
genetic counselling?
You may benefit from genetic counselling if you and/or your partner:
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Has a genetic condition which might be passed on to your children
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Has a condition in the family which may be genetic
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Has had a child or family member with a birth defect or developmental delay
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Are related to each other (e.g. cousins) and are pregnant or planning on having children
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Is a woman aged 35 years or older who is pregnant or planning a pregnancy
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Has had three or more consecutive first trimester miscarriages
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Has had a pregnancy in which abnormalities have been detected on ultrasound
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Is pregnant and has had a positive maternal serum screen or a positive non-invasive prenatal testing (NIPT) result
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Is pregnant and has been exposed to potentially harmful substances (e.g. infection, prescription drugs, recreational drugs or alcohol)
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Is concerned about your family history of cancer
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Has had cancer at a young age
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Belongs to a particular ethnic group that is at an increased risk for certain genetic conditions (e.g. Ashkenazi Jewish, Afrikaner, Indian)
how do I book a genetic counselling consultation?
If you feel that you would benefit from having a genetic counselling consultation and would like to apply to see if you meet the criteria, please complete and submit the application form below.
You are also welcome to direct any questions you may have regarding genetic counselling to genetics@raredieases.co.za
Marianne is a registered genetic counsellor with many years of experience in the profession. After a decade in the field of accountancy, working for a number of large corporations, Marianne hung up her high heels and power suits to pursue a career in genetic counselling. She has spent the past few years working as a genetic counsellor and lecturer in the WITS Division of Human Genetics. Marianne is passionate about genetic counselling and would love to see genetic counselling services expand across South Africa and become more accessible to all.
Marianne Gomes
BCompt (UNISA), BCompt (Hons) (UNISA), BSc (WITS), BSc (Hons) (WITS), MSc (Med) Genetic Counselling (WITS)
