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 and others, 2006
What genetic counselling is
Many conditions run in families. Inherited conditions are either passed from parents to their children, or occur for the first time in an individual, which is called de novo. Genetic counsellors are specially trained to work with people who have, or are at risk of, a genetic condition.
Education
About inheritance, testing, management, prevention, resources and research relating to the condition.
Counselling
To support informed choices, and to help you adapt to the risk or the condition itself.
It is non-directive
A genetic counsellor gives you the relevant information without bias, so that you can make your own informed choices about healthcare for yourself or your child, and about starting or extending a family. Nobody tells you what to decide.
Is a genetic counsellor a doctor?
No. Genetic counsellors hold a Master's degree in Genetic Counselling, have completed a two-year internship, and are registered with the Health Professions Council of South Africa. They are not able to make diagnoses.
They work alongside clinical geneticists, who are medical doctors specialising in human genetics. Clinical geneticists perform examinations and order laboratory tests to diagnose patients.
What happens in a session
The counsellor asks about your family and medical history, then explains the genetic basis of the condition diagnosed in you or your family: how it came about, and the chance of it occurring in the family again.
The genetics is explained in a way that makes sense, so that you leave able to make informed choices. Where relevant, options for genetic testing and the limits of that testing are discussed.
Attention is also given to how you are coping. The counsellor will discuss ways of managing the condition and can refer you to other medical and social support where it exists.
Do I need genetic counselling?
You may benefit from genetic counselling if you or your partner:
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Has a genetic condition that might be passed on to your children
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Has a condition in the family that 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, for example cousins, and are pregnant or planning children
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Is a woman aged 35 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 were detected on ultrasound
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Is pregnant and has had a positive maternal serum screen or a positive non-invasive prenatal testing result
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Is pregnant and has been exposed to potentially harmful substances, such as infection, prescription drugs, recreational drugs or alcohol
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Is concerned about a family history of cancer
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Has had cancer at a young age
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Belongs to a population group at increased risk of certain genetic conditions, for example Ashkenazi Jewish, Afrikaner or Indian ancestry
If you recognise yourself on this list, it is worth applying. Many people assume genetic counselling is not for them.
Genetic counselling application
This is an application rather than a booking. We use it to understand your situation and work out whether genetic counselling is the right next step for you, and which route makes most sense.
Before you start
It asks for clinical detail, so have any test results, referral letters or reports to hand. You can upload them as you go. Set aside about fifteen minutes.
You do not need a doctor's referral to apply. If you have one, it helps.
Questions first? Email assist@rarediseases.co.za