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...





Tuesday, March 15, 2016

And so it begins...my journey as I discover what my own genome, my inner code, the software that makes Clark operate (or not), reveals. Should I be scared? Perhaps. Will I be uncomfortable revealing the truth? Probably. Will it be worth it? I hope. Well, how did I get here? Read on...

First things first. "What is a genome?" you ask politely. A genome is the entire genetic material of an organism. Whether yeast, bacteria, animal or plant, there is a basic biochemical structure that programs the function of a living thing. Watson and Crick discovered its helical structure in 1953 and of course we mean DNA.



DNA is like a twisted ladder whose rungs are split between two different chemicals that complement each other called "base pairs". What's amazing about this complementary, super coiled, super cool DNA is that almost every cell in our body contains 2 copies, one from Mom and one from Dad! The exception being the egg and sperm.

Now, think about how many rungs or base pairs there are...100,000? No. 1 million? No. Try 3 BILLION base pairs. The most astonishing thing is that stretched out, a human genome would be about 6 feet long! Does this blow your mind? No? Well consider that we are composed of about a trillion cells and the tiny DNA machinery fits in all trillion cells. Mind blowing, I know.


OK. So, Clark decides to join the Personal Genome Project (PGP) and is accepted after a long review of its implications. I talk to my sons and daughter about the potential to learn something unexpected, perhaps life-altering. Researchers will have full access to my genome and the data it contains. Insurers could conceivably discriminate against me. I could be related to Robert Burns. This is serious stuff!

Sadly, isolated here in Portland, Oregon, I am unable to travel at short notice for blood letting, er, blood samples in San Diego or Boston, which means I wait. And wait. But after a year, a new option opens up. Veritas provides PGP members an option to pay $999 to have their genome sequenced. Sequencing just means that they use specialized, high-tech equipment to determine what all my genome base pairs are for my genes!

I'm a sucker for DNA sequencing, as I'm sure my genes will attest, so I sign up with Veritas and a specimen kit arrives. I think to myself, "Clark, you are loco and you will be disowned by your family." Fortunately, I ignore the angels of my better nature and proceed to spit in the special vial partially filled with some reagent (possibly tequila) and mail it back to Veritas.



What have I done?!?!