glowgene's Story

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"I thought I would share my experiences here, just in case it is helpful for someone in the future:"

What led you to doing the testing?

"I was diagnosed at 27 with one great aunt on my mother's side with breast cancer and a maternal grandmother who passed away from brain cancer (at 80 years old). Not much of a family history, but my age was enough to warrant testing, regardless of history. De novo mutations are always a possibility, meaning those that were not present in your mother and father as adults, but were present in the sperm or egg cell that eventually became you."

What were your results, and what choices have you made based on the findings?

"I had the Comprehensive Cancer Panel from GeneDx, largely because I'm a genetics PhD student and I pushed for 'All the genetic testing you can get me. Please.' This tested the following genes: APC, ATM, AXIN2, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FANCC, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SCG5/GREM1, SMAD4, STK11, TP53, VHL, XRCC2. I was negative for all of them."

Was payment an issue?

"Payment was not an issue partly due to my age and partly due to my rather amazing student health insurance. I don't make minimum wage as a grad student, but boy, have they made up for it with that health insurance in the last few years."

How have you discussed these decisions with your family?

"I think this question is less relevant for me than most, but my family hasn't been very involved in this process as far as decision-making goes."

What suggestions would you have for others?

"I am always in favour of genetic testing when possible. I may be biased, given my career path, but it can help you plan for the future, especially if you also go see a genetic counselor with your results. Even the VUSs are worth knowing about. More data is added every day (though some of it is more useful than others) on the clinical associations of various genetic abnormalities. That being said, when payment is an issue, there are certain sets of criteria that make it very unlikely that you have a somatic genetic component to your disease and your doctor will hopefully communicate when that is the case."

-- glowgene, tested negative for genetic mutations

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