Genetic testing for breast cancer (BRCA1 and BRCA2 gene mutations) in Canada is covered for a limited number of women with a family history of breast or ovarian cancer. Genetic screening for these mutations identifies women with a dramatically increased risk of disease and allows for early screening and intervention. The reimbursement policies vary across the provinces, but are consistently restrictive, leaving many women scrambling to find an alternative solution. In this blog post, you will find an overview for what is available for women in Canada who are concerned about their family history of cancer.
Breast Cancer Risk Calculator
There are several mathematical models for calculating the risk of breast cancer that take into account a woman’s age, family history of disease and age at first childbirth. Here is a link to one of the risk calculators.
These models are based on broad epidemiological population analyses and can inform whether you are at higher risk for breast cancer than average. In such a situation, you can notify your physician about these findings and request further assessment of your family history of the disease, but these results may not justify a more detailed clinical assessment.
Pros of risk calculators
- Free of cost
Cons of risk calculators
- Not precise therefore not that informative or useful
Choose a genetic testing option for breast cancer
– Genetic counselling
If you have a family history of breast or ovarian cancer, you can request a referral for genetic counselling from your family physician. Most breast cancers are not inherited and the risk of disease progressively increases with age. Breast cancer in a first degree relative (mother or sister) significantly increases your risk of cancer, but the incidence in a 2nd degree relative (aunt, cousin, or grandmother) only marginally increases your disease risk.
Although BRCA1 and BRCA2 mutations account for only 10% of all breast cancer cases, women carrying these mutations tend to develop cancer much earlier. Thus, the age of onset is a very important factor. For example, if your relative was diagnosed with breast or ovarian cancer before the age of 50, there is an increased chance of the disease occurring due to mutations in BRCA1 or BRCA2 gene, so you may also share the increased risk of disease. Please note that BRCA1/2 mutations may be inherited from your paternal, side though it is much less likely to cause cancer in males. You should inform the counsellor about any incidence of melanoma, pancreatic or colon cancer for males in your family. The genetic counselor will take your family history of disease and decide whether you are eligible for genetic testing.
Pros of Genetic Counselling
- Free of cost
Cons of Genetic Counselling
- Not always sufficiently informative
– Government-sponsored Genetic Testing
Genetic testing for BRCA1 and BRCA2 mutations is generally available to( are exclusively for ) women who have already developed breast or ovarian cancer AND have additional risk criteria such as additional family members diagnosed with breast cancer before the age of 50 (see the criteria here).
Canadian women who are disease free “qualify” for genetic testing only if:
- A family member was identified as a carrier of BRCA1 or BRCA2 mutation;
- They are an Ashkenazi Jewish woman with a first or second-degree relative diagnosed with breast or ovarian cancer ,or male breast cancer.
- Please Note: testing is limited to three ethnic specific mutations;
- The family history is strongly suggestive of hereditary breast/ovarian cancer – i.e two or more relatives on the same family side affected with early onset breast cancer or ovarian cancer.
Unfortunately these criteria are way too restrictive and many women carrying BRCA1/2 mutation do not qualify and cannot get the test in due time – see our related blog post on genetic screening for cancer. The only alternative for these women is to buy the test from commercial genetic testing provider.
Pros of Government-Sponsored Genetic Testing
- Free of cost
Cons of Government-Sponsored Genetic Testing
- Restricted access
– Commercial genetic testing
Please note that not all commercial tests for breast cancer risk are medically acceptable and relevant. Prices for breast cancer predisposition testing can vary between $99 and $3,500, so you have to understand why there is such variability in pricing. Results of some of the cheaper tests are not accepted by the medical community.
Although23andme offers breast cancer risk assessment for only $99, this test has very limited utility and is not medically relevant. There has been many cases of women who discovered that they carry a BRCA mutation through 23andme genetic test requiring a test result replication by an accredited medical diagnostic lab in Canada, which can take several months.
Until recently, Myriad Genetics was the exclusive commercial service provider for BRCA1/2 mutation test and charged a premium price for it. When the United States Supreme Court ruled that human genes cannot be patented and struck down patents held by Myriad Genetics Inc. on BRCA1 And BRCA2, other companies including Ambry Genetics began to offer BRCA1/2 sequencing for about $1,500. These providers offer comprehensive sequencing and copy number analysis – see a related blog post on how to choose a genetic testing technology. Please note that these clinical diagnostic tests are limited to the two most common breast cancer genes, which provides only a limited ability to assess your disease risk. Therefore, Myriad Genetics and other providers are now offering an expanded panel to include testing for additional oncogenes. Although the expanded panels are more costly, they offer a more comprehensive risk profile analysis.
Complete Genomics and Illumina offer personalized genome analysis for about $5,000 that can identify disease-causing mutations in practically any oncogene, thus providing the ultimate disease risk profiling for many diseases including many types of cancer. The higher price tag is certainly justified because genome sequencing can provide many useful insights into your health.
At GeneYouIn we chose to offer exome sequencing as part of our VitaSeqTM disease predisposition genetic test, which is more cost-effective than whole genome sequencing, while providing equally good insights into your inherited disease-risk profile, including breast, ovarian, colon cancers, melanoma and many other diseases. Our testing is a two-stage process. First, we use exome sequencing to scan your genome to identify clinically relevant mutations. If suspected mutations are identified, at the second stage we confirm the mutation with a well-established clinical diagnostic laboratory to provide you with medically actionable test result. We also offer targeted clinical giagnostic BRCA testing CanserSeq.
Pros of Commercial Genetic Testing
- Unrestricted access
Cons of Commercial Genetic Testing
- Possible lack of prior comprehensive knowledge and understanding of the significance of these test results
Important note: Get life insurance before getting a breast cancer genetic test
We strongly recommend getting insurance coverage under $1M for yourself and your family members before ordering the test.
Legally, you are obligated to disclose your family history of disease when buying extended health or life insurance.
If your family has a family history of disease, genetic testing can help you to lower your premiums if you do not carry a predisposing mutation.
If you test positive for a predisposing mutation – i.e. you inherited a disease-causing mutation, the insurance company cannot change your premiums or decline coverage for medical treatment.
Some insurance providers cover genetic testing for breast cancer predisposition and you can inquire with your insurance provider.
If you would like to learn more about how genetic testing can help determine your risk for inherited diseases continue reading this related blog post: “How To Choose a Genetic Testing Provider”.
For further information about BRCA testing, please contact
Doctor Leora Lewittes,
High Risk Breast Screening at The Toronto Clinic
55 Avenue Road, East Tower, Suite 2000
Toronto M5R 3L2
Telephone 416-849-5555 or email firstname.lastname@example.org
- Individualized breast screening/imaging recommendations
- Risk reduction strategies
- Family history assessment to determine likelihood of eligibility for OHIP coverage of BRCA testing
- Arrange for BRCA1 & 2 and possibly ‘panel’ testing for those not eligible for OHIP funded BRCA testing
- Facilitate referral for those who are eligible to Ontario High Risk Breast Screening Programs or Familial Breast Cancer Clinics.