Question 1

What is an inherited condition?

Accepted Answer

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 of our body.

Sometimes there are changes in the genes that are passed from a parent to their child. In other cases, there can be extra or missing chromosomes, or parts of chromosomes that are passed from a parent to a child. Sometimes healthy parents can have a gene or chromosome change that may cause health concerns for their children.

These changes may cause physical or cognitive health challenges.

Examples of inherited conditions include cystic fibrosis and muscular dystrophy.

Question 2

What is genetic risk?

Accepted Answer

Genetic counsellors take information about your family and medical history to learn what your genetic risk is.
Depending on the condition in your family, understanding genetic risk may tell you:

 	the chance that you may develop an inherited condition
 	the chance that you could pass the inherited condition to your children

Not all physical and cognitive health 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.

Question 3

Why is my family history important to understanding my genetic risk?

Accepted Answer

Knowing your family history can give a lot of information that helps a genetic counsellor assess:


 	if a condition in your family is inherited
 	your chance of inheriting the condition
 	the chance you’ll pass it on to your children

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:

 	Sickle cell disease is more common in people with African, Hispanic or Middle Eastern heritage
 	Tay-Sachs disease is more common in people of Ashkenazi Jewish or French-Canadian heritage
 	Thalassemia is more common in people with African, Asian and Mediterranean heritage

Question 4

What is genetic testing?

Accepted Answer

There are 2 types of genetic testing:


 	Genetic screening
 	Genetic diagnosis

Genetic screening is usually done during the first or second trimester of pregnancy to give you information about the chances your baby will have certain genetic conditions, like Down syndrome (an extra copy of chromosome 21). Down syndrome is not usually inherited, but is a change in the number of chromosomes that occurs at conception. A screening test tells your health care provider if more testing needs to be done to make a diagnosis.

Genetic diagnosis gives a 'yes' or 'no' answer about certain conditions. It may be done before pregnancy. Genetic diagnosis can give you information about:

 	if you carry a change in a gene that causes certain diseases, like cystic fibrosis or sickle cell disease and if your partner should be offered testing
 	if your baby has a genetic condition such as Down syndrome

Depending on your needs, your health care provider may offer genetic testing for you or your partner.

Question 5

How is genetic testing done?

Accepted Answer

Genetic testing of adults is usually done on a routine blood sample. Sometimes a saliva or buccal (cheek swab) sample can be used. Genetic testing of a pregnancy is usually done on a sample from the placenta or the amniotic fluid.
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.

Question 6

Where can I get help?

Accepted Answer

For more information on your genetic risk, talk with your health care provider.

Genetic Risk