If you or your partner has a family history of certain inherited health conditions, you might want to think about genetic screening. Talk to your health care provider about your family history, your concerns, and how to arrange for the screening.
When someone says that a medical condition ‘runs in the family’, they usually mean that one or more people in their family have the condition.
In some cases, those conditions can be the result of genes that parents pass on to their children. When this happens it’s called an inherited condition.
Genes give the instructions about how our bodies look and how our bodies work. Genes are packaged into structures in our cells called chromosomes. Chromosomes are found in each cell’s DNA.
Sometimes there are changes in the pattern of the genes that are passed from a parent to their child. In other cases, there can be extra or missing chromosomes in the genes that are passed from a parent to a child.
These changes may cause physical or mental disabilities.
Examples of inherited conditions include cystic fibrosis and muscular dystrophy.
Genetic counsellors take information from your family and medical history to learn what your genetic risk is.
Depending on the condition in your family, understanding genetic risk will tell you:
Not all physical and mental challenges are inherited. Other factors can also play a role in some conditions and not in others. Diabetes and breast cancer are examples where environment plays a role in a person developing the condition.
Learn more about inherited conditions and birth defects.
Knowing your family history can give a lot of information that helps a genetic counsellor assess:
Your family history can give information about ancestry or heritage. This can be important because some conditions are more common in certain ethnic groups.
For example:
There are 2 types of genetic testing:
Genetic screening gives you information about the chances you or your baby may carry certain genes. A screening test tells your health care provider if more testing needs to be done to make a diagnosis.
A screening test can be done before pregnancy to give you information about diseases you may be a carrier for, such as thalassemia, bleeding disorders or muscular dystrophy. This is called carrier identification. If you are a carrier for a genetic disease, you could pass the disease on to a future baby.
Genetic screening may also be done during pregnancy, to give you information about the chances your baby has certain genetic conditions, like Down syndrome (trisomy 21).
Genetic diagnosis gives a “yes” or “no” answer about certain conditions. It may be done before pregnancy or during pregnancy. Genetic diagnosis gives you information about:
If your health care provider recommends genetic testing for you or your partner, you’ll have either genetic screening or genetic diagnosis, depending on your needs.
Genetic testing can be done with blood, saliva or urine.
A sample is taken to have the DNA tested.
Before you go for testing, you’ll be offered genetic counselling. The counsellor will talk with you about the reasons to have or not have the test.
Not everyone at a higher risk of a condition chooses to get tested; it’s a personal decision. A genetic counsellor can give you information and support to help you decide if testing is something you want to do.
For more information on your genetic risk, talk to your health care provider.
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