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Genetic Testing for Breast Cancer

BRCA1/2 Genetic Testing - Now with Genetic Counselling!​​

LifeLabs Genetics is offering genetic counselling for individuals wishing to pay for BRCA1 and BRCA2 (BRCA1/2) genetic testing in Ontario & B.C. LifeLabs Genetics plans to offer this service for all Canadians in 2018.

Please note that BRCA1/2 genetic testing must be ordered by a physician. To order, an individual obtains a signed requisition from her/his physician, reads the Patient Information sheet, and signs the consent to ensure s/he understands the benefits and risks of testing. Blood can be drawn at any LifeLabs location, where individuals can pay for the BRCA1/2 test and counselling service. Patients wanting more flexibility can request a saliva kit to do a self-collection at home or can arrange a mobile collection for an additional fee. Once the sample is received at LifeLabs Genetics, we will schedule a 15-30 minute genetic counselling telephone information session. A summary of the session will be sent to the ordering physician and the patient. Samples are analyzed by our German laboratory partner, Centogene, and take 4-6 weeks. A copy of the result with an explanatory letter will be sent to the ordering physician and, if this has been authorized on the requisition by the physician. Individuals tested are strongly encouraged to proceed with their post-test genetic counselling prior to receiving the test result via password protected and encrypted email.

What is BRCA1 and BRCA2 testing?

Analysis of BRCA1 and BRCA2 genes (BRCA1/2) involves a step by step look through the DNA of each gene for changes, known as mutations. BRCA1/2 genetic testing is most commonly performed on blood but can also be performed on saliva, tissue or banked DNA.

Harmful mutations within the BRCA1/2 genes lead to an increased chance for that individual to develop certain cancers, such as breast, ovarian, fallopian tube, peritoneal, melanoma, pancreas and/or prostate cancer. Individuals with BRCA 1/2 mutations are more likely to develop cancer at a younger age and have more aggressive tumours. Among those who develop cancer, variable age of onset and type of cancer is observed, even within the same family.

Who should have BRCA1/2 testing?

It is estimated that 1/400 to 1/800 individuals carry a BRCA1/2 mutation. Certain individuals who are considered to be at a higher risk of having a BRCA1/2 mutation include those with:

  • Breast cancer diagnosed at age 50 or younger
  • Multiple primary breast cancers either in the same breast or opposite breast
  • Triple-negative breast cancer at age 60 or younger (ER-, PR- and HER2/neu -)
  • Ovarian cancer, fallopian tube or primary peritoneal cancer at any age
  • Both breast and ovarian cancer
  • Pancreatic cancer with breast or ovarian cancer in the same individual or on the same side of the family
  • A previously identified BRCA1 or BRCA2 pathogenic mutation in the family
  • Two or more relatives with breast cancer, one under age 50
  • Three or more relatives with breast, ovary, pancreas, and/or aggressive prostate cancer
  • Ashkenazi Jewish ancestry with history of breast, ovarian or pancreatic cancer
  • Male breast cancer at any age

If an individual has a personal and family history of any of the above, provincial Ministry of Health funding in Canada for genetic testing for BRCA1/2 and counselling may be available. A physician may consider referring a patient to a local cancer genetics clinic, which can be found through Wait times vary per clinic, and can range from 2 months to 2 years.

Some individuals who do not meet the above criteria may still wish to pursue BRCA1/2 genetic testing to find out more information about their risk for cancer, even though the chance of finding a BRCA1/2 mutation is expected to be low.

What are the benefits of having BRCA1/2 genetic testing?

The information from genetic testing can be used to guide surveillance, prevention and medical management decisions for an individual in regards to cancer. This information can also affect family members.

Why is Genetic Counselling important?

It is important that prior to receiving a genetic test result, an individual receives genetic counselling to understand the risks and limitations of genetic testing. Genetic counselling provides information regarding the implications of BRCA1/2 genetic testing, cancers associated with these genes, pattern of inheritance and impact for family members. Genetic testing might have a negative impact when applying for insurance, although it is unclear what effect there is on insurance premiums. The result of genetic testing can create emotional burdens (feeling guilty, sad, worried, angry), which can impact individuals and family members and this is discussed during the counselling sessions. During pre-test counselling, the genetic counsellor will:

  • Review the family history of cancer Discuss the benefits, limitations and risks of genetic testing
    • You will have the option to decline further genetic testing once reviewing the benefits, limitations and risks.
  • Review the possible outcomes of genetic testing (positive, true negative, uninformative negative and variants of unknown significance)
  • Discuss possible implications to insurability
  • Send a summary letter of the pre-test counselling session to you and your ordering physician

During post-test counselling the counsellor will review the result and discuss the implications for both the individual and the family.

How are results reported?

The result of BRCA1/2 testing will state one of the following:

  • Positive: A disease-causing mutation was identified. This individual has an increased risk for specific types of cancer. Family members are at increased risk of carrying the same mutation.
  • True Negative: This individual tested negative for a mutation previously identified in the family. This individual’s risk for cancer is not expected to be increased above the general population risk.
  • Uninformative negative: No disease-causing mutation was identified. If an individual has a personal or family history of cancer, the exact cause of the cancers in the family remains unknown. This individual’s risk for cancer remains increased based on family history assessment. If applicable, testing affected family members could be considered.
  • Variant of Unknown Significance (VUS): A VUS indicates that the pathogenicity (whether a mutation causes a predisposition to cancer) of the variant identified cannot be established. Testing other family members may help clarify the clinical significance. Over time, variants may be reclassified as pathogenic or non-pathogenic.

How is the test performed?

BRCA1/2 genetic testing is most commonly performed on blood but can also be performed on saliva, tissue or banked DNA.

How much does it cost?

  • BRCA1/2 test and counselling - $600
  • Urgent analysis (7-14 business days) - additional $250

When will I get my results?

Results will be available within 4-6 weeks once the lab receives the sample. * Urgent analysis (7-14 business days) is available for an additional fee ($250).

How to Order

Did You Know?

It is estimated that 1 in 300 to 1 in 500 individuals, meaning as many as 117,000 Canadians, carry a BRCA1 or BRCA2 mutation.

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