My Genetic Testing Experience

Hey guys! I took a few polls on my Instagram this weekend and you guys let me know that you wanted to know more about my genetic testing experience. Please remember that this is just my story, I’m not a specialist and I’m only sharing what I learned! If you have questions, I highly suggest you talk to your doctor about the possibility of getting tested. 

I would be lying if I was not nervous writing this, but transparency is key with you guys. My experience with genetic testing was recommended by my doctor as we started digging into family history. Doctors have recommended the testing to me before, but I have never followed through. As I start to have conversations about family planning, I realized the importance of the testing due to my family history. 

No one in my family, to my knowledge, has had this testing done before. Going through this experience has taught me that cancer stems from genetics or environmental factors and sometimes both. It’s usually separated by hereditary, familial, or sporadic cancer and I’ll leave those definitions below. My family history includes throat, stomach, colon, prostate, breast, and ovarian cancer. At the beginning of this process, I could attribute possibly only one of these to an environmental factor, which was smoking. Of course that’s what my mom told me, so I’ve never been sure. 

The best way to explain genetic testing is that it’s a test that helps you figure out if you carry any of the 28 main genes that are connected to 8 important cancer types that fall into that hereditary bucket I mentioned. The genes tested are for breast, ovarian, colorectal, uterine, melanoma, pancreatic, stomach, and prostate cancer. There is a ninth column for “other” cancer that really just means that with specific genes, they can tie back to multiple other cancers that aren’t necessary as “prominent” as the eight mentioned. 

For the testing itself, I had the option of a blood or spit test and was told I would have results in about 2-3 weeks. As for the results, the genes could fall into three categories: positive, negative, and uncertain variant. For uncertain variants I was told that they are treated as a negative result until there is an update on the specific gene, but often the gene is categorized as a negative anyways. 

If a gene came back as positive, there is a structured plan for managing the risk. Each plan would correlate to the specific gene mutation found. There were also statistics provided to me for positive results. One specifically that explained a positive result would correlate to a 50% chance that my parent(s), sisters, brothers, and children would have the same gene mutation. 

So exactly sixteen days later after spitting into a tube, I got my results. I locked myself in my room and listened to my specialist tell me I tested negative for all but four genes that came back uncertain variant. She explained I would get updates on those genes as more research was done, but to treat them as negative results otherwise. 

This easily has been the best news I’ve gotten in a while and made me very grateful I did it. I have truly had a weight lifted off my shoulders as I’ve always worried about cancer. Of course this doesn’t mean that I am immune to cancer, but it does mean that nothing in me has put me at an additional and elevated risk. 

All in all, my experience was a good one. I had a supportive specialist that answered all my questions and ensured I understood all the information provided. Luckily my results came back negative and my nerves have been put at ease. I truly recommend this test to those of you that have worried about cancer within your family. For me, this has calmed my mind for the simple fact that I now know my body isn’t putting me at a disadvantage to this very impactful genetic disease as well as knowing my chances of passing it on to my future children. It’s a painless process and worth it if you’ve been thinking about it. As always, thank you for stopping by and I will see you next time! 

xx Alicia

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Hereditary Cancer: Occurs when an altered gene (gene with a mutation) is passed down in the family from parent to child. People with hereditary cancer are more likely to have relatives with the same type or related type of cancer. They may develop more than one cancer and their cancer often occurs at an earlier average age. 
Familial Cancer: Likely caused by a combination of genetic and environmental factors. People with familial cancer may have one or more relatives with the same type of cancer; however, there does not appear to be a specific pattern of inheritance (e.g., the cancer risk is not clearly passed from parent to child).
Sporadic Cancer: Occurs by chance. People with sporadic cancer typically do not have relatives with the same type of cancer. 

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