NIPT (also called NIPS) is a prenatal screening test that screens for extra or missing copies of chromosomes 13, 18, 21 and the sex chromosomes. PGT-A screens for extra or missing copies all chromosomes, including 13, 18, 21 and sex chromosomes. After PGT-A, your pregnancy is at very low risk for a chromosome condition, but since PGT-A isn’t a perfect test, you can consider NIPT if you want further reassurance. If there are any specific ultrasound findings, NIPT may be suggested by your doctor.

Everyone will have their own personal reasons for wanting to find out whether they have a hereditary cancer condition. Genetic testing is used to confirm whether someone has a hereditary cancer condition or not.
 

Some common reasons for wanting genetic testing when it is offered after a cancer diagnosis include:

• It may help provide an explanation for why a person developed cancer.
• It may help a person’s oncologist determine what is the best treatment plan, and whether a person is eligible for a specific medication.
• It may provide more precise information about the chance of developing a second, and unrelated cancer during one’s lifetime.
• It may help a person decide about future cancer screening and prevention options. For example, risk reducing surgery to remove breast tissue for those known to have a high lifetime risk of breast cancer.
• It may help other family members understand their chance of developing cancer, as well as their options for screening and prevention.

Some of the common reasons to want genetic testing for those who have never had a cancer, but know of a hereditary cancer condition in their family, include:

• It may provide more information about lifetime cancer risks.
• It may help determine cancer screening and prevention options.
• It may help other family members understand their chance of developing a cancer and access screening or preventative options.

While there are many reasons people may want to know if they have a hereditary cancer condition, there are also reasons why people may not want to know this information.  There are also many valid reasons to delay genetic counselling and/or genetic testing to a later time in one’s life. Meeting with a genetic counsellor will allow you to explore which option is best for you at this time.

To meet with a genetic counsellor there must be an increased risk for a genetic condition compared to the general population. Some reasons to see a genetic counsellor include family history of a genetic condition, biological parents are carriers of genetic conditions, ultrasound findings, including some soft markers, or high-risk prenatal screening results.

Genetic testing is a powerful tool used to look for genetic changes (alterations in our DNA) that may impact health. These genetic changes are called DNA variants.  DNA variants may provide useful information about an individual’s health, or the health of their relatives.  

Genetic testing might find a genetic cause for a previously diagnosed condition, or it might uncover the chance of developing a health concern in the future. Sometimes genetic test results can help guide future health screening, suggest preventative options, or guide best treatments.

When genetic testing is done, it might report a change in a gene that makes that gene work incorrectly.  This type of alteration is called a “pathogenic variant”.  Genetic testing might also reveal that no gene variants were found in a gene, or genes, of question.  Sometimes genetic testing reports a variant that is uncertain, and the genetics team can’t confirm whether that variant causes a health condition, or whether it may be a harmless and insignificant genetic change.

As we learn more, the information available about genetic testing and genetic test results may change.  It may be important to keep in touch with your genetics health care providers.

Hereditary cancer is caused by a change in a gene (called a mutation or variant) which is passed down from generation to generation in a family. Family members who inherit the hereditary cancer gene mutation face a higher lifetime risk for certain types of cancer, depending on the gene involved. Families with a hereditary cancer condition (or syndrome) may have a clustering of certain types of cancer in closely related family members, and there may be relatives with more than one cancer during their lifetime.  In these families people often develop cancer at a younger age than usual. 

It is important to note, most cancer is not hereditary, but happens by chance and is influenced by age, environmental factors, and lifestyle choices.

Yes. A mutation in a hereditary breast cancer gene can be inherited from either a person’s mother or father. It is a myth that risk for breast cancer cannot be passed down from the father’s side of the family.

This means it is important to review the family history of breast cancer on both sides of the family during a hereditary breast cancer risk assessment. 

Men can develop breast cancer, however, the risk for a man with a mutation in a hereditary breast cancer gene to develop breast cancer is significantly lower than a woman with a mutation in the same gene.