Sunday, June 26, 2016

I check my email, anxious for results from Veritas Genetics. After less than 8 weeks, I receive a message in my inbox. What would it say? Would it consolingly read, "Sorry, Clark, but we've got terrible news. Please contact us ASAP." Or, would it gleefully trumpet, "Congratulations, stud, you're genes are A.MAZ.ING!"

To my chagrin, it simple informed me, "Your results are ready to be transferred to the PGP." Okaaayy. So is it up to me to interpret 3 billion base-pairs or nucleotides (A, T, C or G) as they're called? Was I supposed to swing like Tarzan from one rung to another to figure out what the hell it all means?

As is turns out, PGP provides a few tools, an interactive report based on your DNA compared to thousands of other people. One is ClinVar and the other is GET-Evidence. I don't know about you, but the first one sounds like a vaccine for being spastic (which I am) and the other is some software program call used in CSI that auto-magically gathers evidence to help put the perp behind bars. Are you kidding me?

After a few weeks, I decided to snoop around with ClinVar. I clicked on the link and a list of my variants popped up. A "variant" is simply a deviation from a reference genome. Imagine that my genetic ladder has a rung or nucleotide at position 1,000,360 that is colored blue. However, 90% of the population's rung is usually red. Well, that's a variant, a mutation from "normal" that is also known as "single nucleotide polymorphism" or SNP. It can also mean that a rung is missing, but the ladder compressed to fill the missing space. Or that an additional rung has bee added. More on this later.

Next, I noticed a drop-down box to show the categorical impact of a SNP. Clicking on that shows multiple options, one of which was labeled, "Pathogenic". Oh boy, this ought to be good. If only I had paid more attention in biology class!


I have to admit there were some scary initial variants that gave me pause. But, as we'll learn, genes are not destiny. Yes, there are rare monogenetic (one gene) mutations that can result in a horrible, perhaps fatal disease. However, multiple factors usually result in a given condition. For me, I have a few that I want to track down - why do I have high triglycerides and am I at risk for late onset Alzheimer's like my Grandma suffered?

Stay tuned...





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