by Angela Sams
What if you could get a test to tell whether or not you are at risk for cancer? This is already somewhat possible with the BRCA1 test, which searches the BRCA1 gene for mutations that may lead to breast or ovarian cancer in women. One well-known example of someone who has taken the test is Angelina Jolie, who then had a double mastectomy and both ovaries removed based on the results.
Not all mutations of this gene are bad, however, and a lot about it is still unknown. Because of this, “a test might return with a ‘variant of unknown significance,’ or VUS,” according to a recent Atlantic article. This basically means a mutation that we really know nothing about. For the BRCA1 gene, at least 350 VUS exist, and they could be harmful or benign.
A new approach is being taken here in Seattle, where MCN’s corporate office is located. Researchers from the University of Washington are trying to understand what the mutations could mean by beginning with “genes of great interest” and then figuring out what happens if these genes are mutated in every way possible. Even mutations never before seen in humans are being accounted for – that way scientists will have an answer if the mutation does show up in a future patient.
As important as this information is proving to be, it would seem like a no-brainer to publish it. Unfortunately, that is not the case, as many companies are keeping the data a secret. One such company is Myriad Genetics, a molecular diagnostic company who was at one time caught up in a legal battle regarding a patent on the BRCA1 and BRCA2 genes.
Politics aside, this research is positive news in the science and health realm. While our genes are what make each one of us unique, they may also be the key to unlocking disease prevention. And, while many may not go to the same extremes as Angelina Jolie, we can choose what to do with the enlightening information given to us.
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