I am officially at the age of aging parents. The age when we discover the small and the big family medical problems. Those that happen by chance or because of hereditary. This is when we wonder about our own risks, those that we will pass on to our children and how we can prevent certain health problems. By knowing more about my genetic background, it is possible to make better decisions about my current situation for my future health.
Two cases of breast cancer on the maternal side, two cases of prostate cancer on the paternal side. Heredity may increase my risk of carrying a BRCA gene which is linked to these two types of cancers. I wanted the advice of a genetic counsellor since I am aware that my family doctor has more limited knowledge of hereditary cancers and genetics. As good and knowledgeable as he is!
Following booking my appointment on the online Genolife portal, my genetic counsellor Andrea Secord sends me a questionnaire to complete. I took time to discuss with my mother since I wanted to know more about my grandparents. This discussion allowed me to complete the questionnaire with detailed information about my family’s health issues. I didn’t think there were so many! I include everything I know, the grandfather who died young and the cause of his death. A first step that allows me to become aware of the possible risks I could have. Having children, I also want to know what I can pass on to them in terms of genetics.
On the day of our virtual meeting (so happy not to come to a clinic during a pandemic), Andrea explained the agenda for our meeting and summarized the information on my questionnaire. She determined 3 categories of subjects based on my answers: Hereditary breast cancer, autosomal dominant disease and rare disease.
We discussed these three topics and she explained what we currently know and what can be screened for using genetic testing. Based on what she knows about me, genetic testing for breast cancer may be an option. Genolife offers a test that can detect up to 9 genes associated with breast cancer … I thought it was only BRCA!
Our conversation then turns to an autosomal dominant disease present in my father and paternal grandmother who passed away. Genetics cannot help me at the moment, the disease is not well documented and we do not yet know the genes that could be associated with it. However, she advises me to see with my doctor about the possibility of performing a baseline ultrasound now, at age 30. That way, it will be possible to follow my situation and see if there is an evolution when I get to age 40 or 50, which would help to quickly detect if I am developing symptoms of this degenerative disease. Detecting the disease in its early stage can reduce the progression of some consequences of this disease. Since it is an autosomal dominant disease (a genetic defect that is transmitted from a single parent), I have a one in two chance of being a carrier and thus of developing the disease. It is therefore very important for me to know if I am affected. Some good advice considering I cannot have genetic testing for this condition.. Then, we talked about the risks of a rare disease that I was aware of in my extended family. According to the numbers and the answers she gives me, I do not feel I need to know more about the subject and I am reassured.
I must admit I thought the answers about my health would only be found in genetic testing, but I realized that a genetic counsellor is a real ally in prevention. Thanks to her, I learned about my health concerns and I can make more informed decisions. I am seriously considering having a genetic testing for hereditary breast cancer and will ask for an ultrasound for the autosomal dominant disease for which I am at risk.
30 is early, but it is also the best time to act!