Thursday, February 9, 2012

Enter the Exome

My Exome kit from 23andMe has arrived! In a few short weeks, I will have my exome sequence in hand and ready to analyze. I've looked at hundreds of exomes over the past year, but only now, when I'm about to look at my own, have I started to really think about how to extract meaning from a healthy individual's exome. All of the work I've done has either been to assess exome sequencing as a science or to hunt for mutations causing specific conditions (Mendelian Disorders and novel genetic syndromes).

Now I'm going to have my own sequence in hand and have a very basic yet exceedingly complex question to answer: What does this all mean?

And with that question comes other questions:

Why do I care about my own exome?

What can I learn from it?

What justifies the cost?

Is it safe?

In the coming days, I will be posting about my answers to these questions and more. I came to a realization a couple of days ago (right after I ordered this kit) that even questions that seem simple to me as a geneticist are not so simple for most people.

"Why do you want to do this?" is harder to answer than people may think. Off the cuff I might say, "I'm a geneticist, it's what I do!" but that isn't at all the whole answer. So I am going to make it a goal to explain why anyone would want to have his or her exome (or genome) sequenced in terms that hopefully anyone can understand.