Genetic testing in children

What is genetic testing?

Genetic testing can help doctors look for changes in genes that can cause certain medical conditions.

Genes carry information that determines your traits – features or characteristics that are passed on to you from your parents. Some genetic disorders can run in families. Genetic testing can sometimes find if someone has an illness, is at risk of one, and/or is a carrier for an illness.

Genetic testing has risks and benefits. Your health care provider, a medical geneticist or a genetic counselor can talk to you about the pros and cons of testing.

Who is genetic testing for?

People get genetic testing for many reasons. Your health care provider might recommend genetic testing for your child if:

• you have a family history of a genetic disease that may require treatment during childhood.
• your child has symptoms of a condition that could be linked to a genetic disorder.

Genetic testing to see if a child is a carrier of an illness should be delayed until they are old enough to give their own consent. The exception would be in cases where the test results would change how doctors provide care before the child is old enough to give consent.

Genetic testing to identify conditions that don’t typically appear until adulthood (e.g., some types of cancer, some heart disease, and other single-gene conditions) is generally not recommended during childhood.

How is genetic testing done?

Genetic testing is usually done with a small sample of blood. Sometimes it is done with tissue or saliva. Some tests look for specific variations or examine a limited number of genes. Others look at thousands of genes at the same time.

Should we do genetic testing if my child was adopted?

No. Unless there is a medical reason to test, adopted children should only have genetic testing similar to screens and tests offered to children in the general population. 

What are the risks of genetic testing?

Genetic testing for children can come with psychological and social risks. Any discussion about genetic testing should involve your health care provider, as well as a medical geneticist or a genetic counselor. Genetic counselors help people decide what tests to get and understand what they mean. They can also offer support and resources.

What are the benefits of genetic testing?

Genetic testing can allow doctors to pinpoint a specific diagnosis, which can help them take better care of your child. This can ensure that the right tests are done, and can help avoid unnecessary ones. Having a diagnosis can also help determine the chances of the same condition happening again if you were to have other children.

What about privacy?

Genetic information is private because sometimes people with genetic differences are discriminated against.

What about consent?

Parents must give consent for genetic testing on young children. Parental permission assumes they have their child’s best interest at heart. Older children may give their own consent if they are mature enough to fully understand what they are agreeing to. The legal age of consent is different depending on which province or territory you live in.

Be open with your child and let them participate and make decisions when appropriate.

What about those genetic testing kits I can buy online?

The Canadian Paediatric Society does not recommend the use of at-home genetic testing kits for children, such as those marketed to learn about ancestry or health conditions. For children, the risks far outweigh the benefits.