More gene testing

When I was getting the gene testing, it was kind of a big deal that – although we had drawn my grandmother’s blood for genetic testing before she died – it had been thrown away in the end. So we had no cancer-positive family member against which to compare my own genetic info. This greatly lowers the efficacy of the testing, as they’re basically just having to search all of your DNA randomly. It’s a major needle in the haystack sort of thing. But what can ya do? If you recall, I came back negative for BRCA 1 & 2.

A few days ago, my cousin called me, asking about more genetic testing. Her mother died from breast cancer; both she and my other cousin have also tested negative for BRCA. Interestingly, her geneticist said to her, once she heard that I had tested negative, that “you’re not going to find anything.” And they didn’t. However, this geneticist holds the position that there’s virtually no way my cancer was not genetic. “If it’s not genetic, your family just has the most statistically impressive hits ever. And to have had it at age 29 on top of that- there’s no way it’s not genetic.”

You see, with genetic testing, apparently not everyone gets the same treatment. You may have a larger or smaller “arrangement” of genetic sampling that they chose to look at. I was simply told, “it’s not economically feasible to test everyone for all the [more rare] genetic mutations, just the most common ones – BRCA 1/2.” So the question is, how large of an arrangement did I have? My test took something close to 1 year to come back – which would imply that I had a very large arrangement done. However, I took the quotes above from my doctor to mean I was only being tested for BRCA.

Regardless, I have now been [gladly] volunteered by my family to pursue further testing to see if they can turn up one of the more rare – or even new – mutations. Who knows, maybe we’ll discover a new one, and we can name it something fun. My cousin came up with some great suggestions. I think KLRBOOB1 has an effective ring to it. Think on it. I’ll let you know what we find.


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