A breast cancer diagnosis comes with so many questions and there never seems to be enough time at appointments to have some of these questions answered. To help address this, we developed a "Q&E: Questions and Experts" series. In this series, a variety of experts spend the entire virtual session answering pre-submitted and live questions from participants. Watching the videos on-demand might be a little difficult to get through. So, we’ve created this guide to help you get right to the questions and answers that matter the most to you.
In today’s post, we provide the questions that were sent in and asked during the live session of our Questions and Experts session held in June 2022. In this session, Rachel Mador-House, a certified Genetic Counsellor, answered questions about genetics and genetic testing. In the parentheses, you’ll find the timestamp of where to find the question in the on-demand video.
Genetic testing: procedure and future outlook
What is involved in genetic testing? Is it a blood test, tissue sample, or saliva sample? And do different methods of collection give different results? (3:50)
Does a skin sample for genetic testing qualify or get classified as a biopsy? (6:31)
Considering where we are at with the genetic testing, what would you and other Genetic Counsellors want to see improved? What would the next version of genetic testing look like? (16:05)
Breast cancer, genetics, and genetic testing
Should everyone who has been diagnosed with breast cancer have a genetic test done? (10:37)
What are some of the most common genetic mutations that are related to breast cancer and what are the implications for someone who is identified as having those genetic mutations? (49:53)
This person has 6 granddaughters who all have a family history of breast cancer with 2 grandmothers and great-grandmothers who have had breast cancer. Could any of these cancers have been inherited and would genetic testing be helpful for this person? (56:01)
I was told that ER-positive breast cancers are not inherited. Is that correct? (56:22)
For someone who has tested positive for the BRCA1 gene, what is the youngest age that children can have genetic testing done? (1:00:30)
If both the mother and the father have tested positive for a BRCA mutation, is it then implied or guaranteed that their kids are going to have that BRCA mutation or is there a possibility that their kids won't have that? (1:05:27)
Why are BRCA1 and BRCA2 gene mutations predominantly found in certain populations? And if someone is not in that certain population, is this something they should not have to worry about? (1:10:32)
Can diets and lifestyle changes modify our epigenome and reduce the risk of developing breast cancer or other cancers? (1:16:12)
Can cancer treatments like chemotherapy, radiation, or hormone therapy change your genetics? (1:20:55)
Who should get tested?
Should everyone who has been diagnosed with breast cancer have a genetic test done? (10:37)
This patient’s parents were both cancer-free and yet 4 out of her 5 siblings, herself included, developed cancer. Would genetic testing be valuable for her daughters, grandchildren, nieces, or nephews? (19:09)
This person has 6 granddaughters who all have a family history of breast cancer with 2 grandmothers and great-grandmothers who have had breast cancer. Could any of these cancers have been inherited and would genetic testing be helpful for this person? (56:01)
You mentioned that if you have multiple family members who had have cancer, the youngest family member would be the best person to have genetic testing done. What is that age? (59:30)
This person had genetic testing done 5 years ago. Should they get it done again since we now have a better understanding of different mutations? (1:03:34)
If you have a mother and a father who have the same mutation, other than the BRCA mutations, is the likelihood of the children getting the mutation the same as it is in the case with the BRCA genes or does that likelihood vary by gene? Does it then initiate the same need for the children to get tested at an earlier age? (1:08:12)
Access and coverage
If someone wanted to proceed with getting genetic testing based on family members who have had various types of cancers, is this covered by OHIP? (22:57)
Is genetic testing broadly covered by the various public healthcare systems across the country and how does a person navigate that? If it isn’t how does one get access to genetic testing? (23:10)
Test results
Do ancestry tests look for genetic features and what do they do with that information? (28:50)
Once your test results show positive for a genetic mutation, you then speak to a genetic counsellor who walks you through what it all means. What is the next step after this? What is your entry point into the healthcare system with the results and who do you see and speak to in the system with those results? (33:18)
This patient had breast cancer and their report from Invitae showed BRCA2, Exon 11, among others, and uncertain significance in bold. What does uncertain significance mean and if a patient wants to follow up with a genetic counselor about this, how should they proceed? (36:16)
Does genetic testing show results for features other than cancer and are the features in cancer indicators for other diseases? (42:08)
If someone gets genetic testing done and the test is positive for certain mutations, will their premiums go up and will they still be able to get life insurance? (46:30)
Can genetic testing tell whether the risk is coming from the maternal or the paternal side of the family? (1:19:15)
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