Hereditary Cancer Advocacy and Looking into My Genetic Inheritance

When I received my genetic testing kit in the mail, I quickly opened the package. I was eager to get tested and learn more about my genetic inheritance, and to see if there might be an unknown cancer-causing mutation that was passed down in my family. I felt that as a hereditary cancer prevention advocate passionately talking about the importance of knowing and sharing family health history, I needed to be fully tested for the 84 known genes associated with hereditary cancers.

When Mark Hicks got his testing kit to determine if he had any cancer-related genetic mutations, he opened it right away.

Drawing by Mark Hicks

But my eagerness turned into a sense of dread as I sat and stared at the kit for several minutes. I was hit with a frightening "what-if?" I wasn’t really scared for myself; I was frightened for my daughter. What if I carry a germline mutation that I might have passed on to her that would put her at an increased risk of cancer?

I say increased risk because she already carries a BRCA2 mutation that she inherited from her late mother. She is already a previvor being monitored for the cancers associated with that mutation, and I didn’t want to add to that burden. Inheriting other mutations that increase the risk of cancer can and does happen.

Ever since my late wife was first diagnosed with cancer and found to be BRCA2 positive, and especially after my daughter also tested positive for the same mutation, I wanted to have gene sequencing done. It wasn’t that I was overly worried that I carried a mutation with a cancer risk; after all, there wasn’t really much of a history of cancer on my side of the family. However, my dad had survived colon cancer when he was in his 60s, and even though it was likely sporadic and not genetic, I wanted to be sure.

But walking into your primary care doctor’s office and demanding a full-panel genetic test for mutations that might cause cancer “just because” is usually met with strong resistance. Even if there is a family history of cancer, many doctors are reluctant to order genetic testing and counseling.

In my late wife’s case, doctors knew of her family’s cancer history for years before her diagnosis but never suggested genetic testing. Granted, her family’s health history was puzzling because of the different types of cancer. However, it should have warranted further investigation. Frustratingly and sadly, 21st-century medicine hasn’t quite found its way into every healthcare provider’s office yet.

Fortunately, in my advocacy, I have made some great connections with nonprofit organizations and individuals. Kathy Baker, executive director at one of those organizations, MyFaultyGene.org, helped to make sure I got tested. My Faulty Gene is a nonprofit organization that helps provide information and assistance to individuals with a family medical history that suggests genetic testing might be beneficial in identifying a cancer risk.

My anxiety about getting tested didn’t last long. Because of what happened to my wife, I was painfully aware of how not knowing about a genetic mutation can have tragic consequences. So I read the instructions twice to make sure I got everything right, provided my saliva sampleand mailed it back right away.

However, my anxiety crept back in when I received the email telling me the test was complete. Those "what-ifs" gave me a bit of a gut punch as I logged into the website for the results. Surprisingly, and with an enormous sigh of relief, I saw that there was only one mutation detected, and it was not cancer-related. It was linked to a metabolic disorder, and I only had one copy of the mutation — two copies of the abnormal gene must be presentin order for the disease to develop.

Because genetic counseling is also important, no matter the result, I have a meeting scheduled to go over my test. I also want to find out if there are any variants of uncertain significance (VUS) I might need to be aware of since the report did not mention any VUS information.

Doing the test gave me new insight on why there might be some hesitancy to get tested. The fear of what you might find and what you might have passed on to your children can have a strong effect. But as an often-used phrase used in the hereditary cancer community states, "knowledge is power."

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