[2020-10-27] Genetic testing
I had a call this morning with a genetic counselor at CHEO (Children's Hospital of Eastern Ontario) to discuss next steps in my genetic testing. As I explained in Messy and magical, genetic testing on my tumours found the BRCA 2 gene mutation—what the genetic counseler, Valerie, says they prefer to call a gene variant. CHEO runs the regional genetics program.
Because my tumour contained the BRCA 2 gene variant, I am eligible for testing to determine whether I carry that variant more generally in my system. A simple blood test is all that's needed. And because there's no time like the present, I went to CHEO as soon as my call concluded so that I could provide a blood sample and get the ball rolling. It will take 2-4 months to receive the results.
Given the incidence of cancer in my extended family (one aunt, half a dozen first cousins), it's possible that the gene variant is hereditary on my mom's side. If my result is positive—in other words, the gene variant is found in all my cells—my mom and siblings (sister and brothers) will be eligible for testing, as will my children (daughter and son). If I am positive, they would have a 50-50 chance of also testing positive. If one of them does test positive for the gene variant, their kids would be eligible for testing. If my result is negative, no further testing will be required. Similarly, if the result for a sibling is negative, no further testing of their children would be needed.
I have about the same chance of being positive as being negative for the BRCA 2 gene variant, perhaps leaning towards the positive given the history of cancer in my extended family, notwithstanding the substantial size of that family. It's also possible that, if I do have the gene variant, I inherited it from my father.
CHEO will test my blood sample for up to 17 genes, which could identify other variants. These variants could be pathogenic (causing disease), of uncertain significance (a change that has not yet been found to cause disease) or benign (not causing disease).
The genetic testing and associated counseling will be helpful in determining next steps for myself and any others who may test positive for a gene variant. A positive test result would increase my risk of breast cancer and other cancers. Valerie explained that the best way to protect myself from other cancers, such as breast cancer, would be surgery. However, other options exist, including enhanced screening and medication. If I am positive for the BRCA 2 gene variant in my system generally, I will be eligible for an annual mammogram and breast MRI. Given the incidence of breast cancer in my extended family, Valerie recommended that my female relatives start getting mammograms at age 40.
CHEO provides an excellent e-learning module on genetic assessment for cancer screening (in English and French). Note that it does not work on the Chrome browser or MacIntosh computers, so you'll have to use something else.
In other news, I have been so positively overwhelmed by all the beautiful messages I received about my buzz cut. One person said I looked like a wise and serene Buddhist nun—fitting given the calm, positive and inspiring content of my blog—and another said that I have the "air of the sage archetype from fiction/literature." Some said I looked like a badass (even "G.I. Jen"), another applauded my "edgy look" and one person sent this quote: "I may have lost my hair. But I have not lost my inner badass." Some said: "It's a fresh new start!" and "Whatever you wear, always accessorize with your smile." One person said: "You are so beautiful inside and out!" and another person quoted Rod Stewart, saying "You wear it well." One of my biggest cheerleaders said: "See? ... You can't hide beautiful!" Even the guys got into it, sometimes noting that at least my hair will grow back or that I have a nicely shaped head and encouraging me to #EmbraceTheBald. Many people congratulated my husband on the awesome buzz cut, saying he should be proud, and one friend said: "I have a crush on your husband. He sounds amazing." And he absolutely is. Thank you all for your support and encouragement.
