Genetic Testing



The Testing Process

Genetic testing consists of a blood or saliva test.  Wait times vary, depending on the type of genetic testing service used.  Research has shown that being told you have an HBOC syndrome gene mutation is as stressful as hearing you have a cancer diagnosis.  Make sure you are supported during this process.  Consider having someone with you for the results who can take notes and be a comfort in the case of a positive result.

Tip:  Ensure insurance is in place prior to receiving genetic testing.


Types of Genetic Testing

Most health care systems will provide coverage for the cost of genetic testing where certain criteria apply (see Red Flags).  If you do not qualify for insurance-paid genetic testing or are not comfortable with the wait times, there are now several doctor-ordered pay options now available.   Regardless of the option you choose, it is essential that a professional genetic counselling session is included.

Some prominent researchers, including Dr. Mary-Claire King, who first discovered hereditary breast cancer,  believe that too many HBOC syndrome risky gene carriers are being missed due to the restrictive criteria for insurance-paid services.   This has basis in evidence as Dr. King’s own research reported about 50% of the study group who were diagnosed with breast cancer did not have a close family history of cancer.  Dr. King has been an outspoken advocate of general population testing.

2016MayColor To that end, Dr. King  serves as a non-paid scientific advisor to Color Genomics, a no-barrier, affordable, full-gene-panel service that has recently become available in Canada.  It may be ordered online through your own doctor, or with the help of one of their medical professionals, and includes genetic counselling, as should any service chosen.  There are other pay options available online or through private clinics that provide a similar level  of service but, as already mentioned, ensure any service you use includes professional counseling.   Please contact us to learn more.

Tip:  Many genes have now been and will continue to be discovered that, if mutated, cause HBOC syndrome.  Whether insurance-covered or pay options, ensure you do your homework before choosing a service and ensure genetics counselling is provided by a qualified professional.

See a list of discovered HBOC genes

Tip:  Pay gene-panel genetic testing services may also include genes that cause conditions other than HBOC syndrome.  If you only want results regarding HBOC syndrome, have your doctor make this clear to the service prior to ordering the test.

What some of the experts say:


Learn More – Dr. Mary-Claire King
LEARN MORE – Genetic Testing Privacy


Family History

When determining whether your family history fits the criteria to make you eligible for insurance-paid genetic testing services, your doctor will want information on the cancer history of your first-degree relatives (parents, children, and full siblings) and second-degree relatives (grandparents, aunts/uncles, nieces/nephews, grandchildren, and half siblings).  For each relative who has had cancer, collect as much of this information as possible:

  • Type of cancer(s)
  • Age diagnosed with each cancer
  • Lineage, meaning is it maternal (on the mother’s side) or paternal (on the father’s side)
  • Ethnicity – Some ethnic groups, such as the Ashkenazi Jewish  population (1 in 40), are at much higher risk for carrying an HBOC syndrome mutation
  • Results of any previous cancer-related genetic testing

If, after reviewing your family history, your doctor suspects that you may have an HBOC syndrome mutation in your family, it is important to understand what this means and what next steps are available.  Your doctor will refer you to a genetics clinic within the health care system.  If your doctor does not think your family history warrants genetic testing but you still want to be tested, or you do not want to endure the wait for government-insured testing, you may want to consider one of the consumer-pay options now available as discussed above.


Questions to ask your Doctor

When you discuss your family history with your doctor, ask the following questions:

  • (If HBOC syndrome is suspected) Do I fit the criteria to qualify for government-paid genetic testing?
  • (If yes) What are the wait times to get into the government genetics clinics  and for results?
  • What consumer-pay options available to me and what are the turnaround times?
  • Does my family history put me at risk for other types of cancer?
  • (If have cancer) Would information from genetic testing change your treatment plan for me?
  • Is my genetic information protected?
  • Which of my family members are at risk?
  • What information do I need to share with family members?
  • I was found negative for BRCA mutations in the past.  Should I be re-tested for newer mutations?
Learn more:  Genetic Testing – The Good, the Bad and the Ugly
LEARN MORE:  Canadian’s genetic testing results are not protected



As discussed in “About HBOC syndrome“, there are now many genes that fall under the HBOC syndrome umbrella, and some yet to be discovered.   Some genetic testing services are limited in the number of genes they can test for, which means that even with a significant family history of cancer genetic test results may still be negative.  If a negative result is returned a genetic counsellor may still deem  a family as being ‘high risk’ based on the clear family history and other factors.  This still allows for access to early cancer screening and risk reduction options, even in the absence of a confirmed mutation.

Important:  For many years the only HBOC mutations that were known, and being tested for, were the two BRCA mutations.  Individuals that returned negative results may want to consider being tested with a newer, more comprehensive gene panel.


Talking to your family

Genetic test results may lead to a variety of reactions that can cause stress in families. This is especially true if you have family members that have different feelings about whether or not to have testing, or what should be done after a positive test result.

It is important to share information with your blood relatives about the cancer in your family and about your genetic test results.  Here are some tips:

  • If possible, approach family members and relatives with someone else who is supportive of your decision to have genetic testing and the decisions you have made to manage your own cancer risk.
  • Be prepared that relatives may not respond positively to the information you are giving them.
  • Be sensitive to family members’ situations and feelings.
  • Avoid pressuring relatives to make a particular decision with regard to genetic testing and/or prevention options.
  • Have relatives contact genetics clinics in their area to ensure that they receive up-to-date information.
  • Respect their right to talk to their own medical professionals and make their own informed decisions.
  • In situations where it makes sense due to distance or the relationship issues, write a letter.

If you would like information or support before, during and after the testing process please contact us.