Genetic counselling provides information and advice about genetic conditions. These are conditions caused by changes (known as mutations) in certain genes and can be passed down through a family. Genetic counsellors provide information and support to families who have members with genetic disorders or to families who may be at risk of a variety of genetic conditions. Genetic counselling isn't a form of psychological counselling or psychotherapy and shouldn't be confused with counselling therapy used to treat mental health conditions, such as depression.
Why might I need genetic counselling?
• You know there's a specific genetic condition in your family and you'd like advice about the risks to you and/or your children
• There may be a suspected genetic condition in your family that needs specialist diagnosis
• Your child has problems that may have a genetic cause and need specialist diagnosis
• There's a history of some types of cancer in your family, such as breast cancer a young age, and you want to know if you might be at risk
• You're pregnant and you want to discuss prenatal genetic screening options
• You’re pregnant and you want to discuss an unexpected screening or test result and understand your options
What will happen at my appointment?
This will depend on exactly why you’ve scheduled an appointment. But here are some examples of what might be discussed:
• Learning about a health condition that runs in your family, how it's inherited and which family members may be affected
• An assessment of the risk of you and your partner passing an inherited condition on to your child
• A look at the medical history of your family or your partner's family and drawing up a family tree
• Support and advice if you have a child affected by an inherited condition and you want to have another child
• A discussion about genetic tests (which can be arranged if appropriate)
• Help in understanding the results of genetic tests and what they mean
• Help to deal with feelings about how genetic conditions affect you and your family
• Explore reproductive options
• Enformation about relevant patient support groups
• Referrals to other sources of help
It's important to understand that your genetic counsellor will not make decisions for you or tell you what to do next. They will try to give you clear, accurate information so you can decide what's best for you.
What does genetic testing involve?
Genetic testing is usually carried out on a small sample of blood or tissue. The sample will contain cells containing DNA (genes) and can be tested to find out whether you or your baby are carrying a particular change (mutation) and are at risk of developing a particular genetic condition. The blood or cell samples will be tested and examined in a genetics laboratory. Depending what is being tested for, it can take weeks or even months for the results of genetic tests to become available. Genetic tests don't yield easy-to-understand results. They can reveal the presence, absence, or changes in genes or chromosomes. Helping to decipher and understand what these complex tests mean is where a genetic counselor comes in. It is also important to understand that it is not always possible to give definite answers after genetic testing. Sometimes it is necessary to test other family members, and sometimes other tests may need to be performed.