Genetic Counselling: Questions and Answers

26Jan10

I met with my genetic counsellor today and below are the answers to the questions I posted previously:

What type of genetic discrimination may I face if I am positive?
Testing positive may cause me to denied for private health, life, or mortgage insurance. These types of insurance often require health questionnaires and request access to health records. Although I could try to lie on the questionnaires, the companies may still find a reference to my genetic status in doctor’s records. And that would mean denial or voiding of my policy. However, group health plans by many employers in Canada do not require health screens. And the my public health care plan in Canada definitely is not affected by my genetic status.

Is there legal protection against genetic discrimination in Canada?
No, there are no laws or significant legal precedents regarding genetic discrimination in Canada. Although the U.S. enacted a law prohibiting genetic discrimination for health care in 2009, there is no similar law in Canada. And there are no expectations that there will be one soon, since there is little public pressure for such a law.

Could the results of my test affect my ability to immigrate or get sponsored for a work visa in Canada?
Still don’t know the answer this question. The counsellor is helping me check on this issue and I should have more info next week.

Is there any way to ensure my test results are not accessible to others?
The records of the cancer agency are strictly confidential. If any one requests access to my file, I must give explicit consent first. Even if it is my own family member.

Is it fair to assume that the risk of ovarian cancer for our family mutation is at the low end of the spectrum due to the lack of family history and position in the BRCA2 gene?
Yes, the lack of family history and position of the mutation indicates my risk of ovarian cancer is probably at the low end. But neither factor provides enough evidence for a definitive risk assessment. There are families that have no previous history of ovarian cancer… until it hits the current generation. Also, there is still a lack of consensus on whether an Ovarian Cancer Cluster Region really exists in BRCA2.

Is it fair to assume the risk of breast cancer is at the high end of the spectrum for the aforementioned reasons?
The lack of very early-onset cases of breast cancer in my immediate family actually suggest my risk of breast cancer may not necessarily be at the high end. Most of the women in my family had peri-menopausal cancer and this bodes well for my risk. (Actually, I am still sceptical on this. Perhaps I don’t need to worry too much about very early-onset but the penetration of breast cancer in our family seems really high.)

If I test true negative (since my mother is positive), will I indeed be considered normal risk?
Yes, this is the position of the cancer agency and current research.

What are the screening recommendations for women of normal risk?
Free screening mammograms are available for women 40 to 79 in the province.

What other cancers are we at risk of?
BRCA2 mutations are linked to a significant increased risk of breast, ovarian, and (to a lesser extent) prostate cancer. It has also been correlated with an slightly increased risk of melanoma, and the cancer agency recommends skin exams for fair-skinned people. Colorectal and other gastric cancers were once thought to be correlated with BRCA2 mutations, but recent research suggests the risk is the same as the general population.

How long will it take to get the results?
Carrier testing (i.e. testing for a mutation that has already been identified in the family) takes 2-6 weeks.

Who conducts the test?
The testing is done in the cancer agency’s own lab within the province. Testing of a new case is always done with a sample from a known mutation carrier of the same type. This helps reduce the risk of a false negative.

Are there clinical studies for screening/preventive studies that I can take part in?
There are no local research studies for screening as there is already a screening clinic for high-risk patients. Screening procedures for women include a yearly MRI and mammogram (alternating every 6 months). There is no screening for ovarian cancer as it was found to be ineffective at early-detection. Furthermore, I am immediately eligible for these screening procedures whether or not I go through with genetic testing, since my 50% chance of carrying the BRCA2 mutation already makes me “high-risk.”

Since my family has a large amount of genealogical data and our mutation is relatively rare, would our case be of any particular use or interest to researchers?
Yes it may, but I will need to consider privacy issues with sharing this data. I will be getting contact information shortly for researchers in Toronto who work on genetics and epidemiology.

Are there any local support groups for BRCA+ women?
Currently there is none, but I have added my name to the list of interested people.

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One Response to “Genetic Counselling: Questions and Answers”

  1. I have been working with the Canadian Coalition for Genetic Fairness to address some of the issues related to genetic discriminaition in Canada. Just last week I met with the offices of the Minister of Justice, Health and Industry as well as the Prime Ministers Office to discuss this important issue to all Canadians…who amongst us has perfect genes?


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