Hereditary cancer advocacy and examination of my genetic heritage

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 heritage and see if there might be an unknown cancer causing mutation that has been passed down in my family. I felt that as an advocate for hereditary cancer prevention speaking passionately 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.

But my excitement turned to a sense of dread as I sat and stared at the kit for several minutes. I was hit with a scary “what if?” I wasn’t really scared for myself; I was afraid for my daughter. What if I carry a germline mutation that I may have passed on to you that would put you at increased risk for cancer?

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

Ever since my late wife was first diagnosed with cancer and tested positive for BRCA2, and especially after my daughter also tested positive for the same mutation, I have wanted to do gene sequencing. It wasn’t that I was overly concerned about carrying a mutation with a cancer risk; after all, there really wasn’t much cancer history on my side of the family. However, my father had survived colon cancer when he was 60, and while he was probably sporadic and not genetic, I wanted to make sure.

But walk into your primary care physician’s office and request a full-panel genetic test for mutations that could cause cancer just because it’s 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, the doctors knew her family’s cancer history for years before her diagnosis, but never suggested genetic testing. Of course, her family’s health history was staggering due to the different types of cancer. However, it should have warranted further investigation. Frustratingly and sadly, 21st century medicine has not yet found its way into all healthcare practitioners’ offices.

Luckily, in my defense, I’ve made great connections with non-profit organizations and individuals. Kathy Baker, executive director of one of those organizations,, helped me get tested. My Faulty Gene is a non-profit organization that helps provide information and assistance to people with a family medical history that suggests genetic testing might be helpful in identifying a cancer risk.

My anxiety about the test 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 did everything right, provided my saliva sample and sent it right back.

However, my anxiety returned when I got the email telling me the test was complete. Those “what ifs” punched me in the stomach when I logged on to the results website. Surprisingly, and with a huge sigh of relief, I saw that only one mutation had been detected and it wasn’t related to cancer. It was linked to a metabolic disorder and I only had one copy of the mutation, two copies of the abnormal gene had to be present for the disease to develop.

Since genetic counseling is also important, regardless of the result, I scheduled a meeting to go over my test again. I also want to find out if there are any variants of uncertain meaning (VUS) that I might need to be aware of since the report didn’t mention any VUS information.

Taking the test has given me new insight into why there might be some hesitation about taking the test. Fear of what you might find and what you might have passed on to your children can have a strong effect. But as a phrase often used in the hereditary cancer community states, “knowledge is power.”

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