Here Is a Human Being Read Online Free Page A

Here Is a Human Being
Book: Here Is a Human Being Read Online Free
Author: Misha Angrist
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genes—were the risks additive, multiplicative, or something else? Could one bad version of a multiple sclerosis gene undo the health effects of four good versions of other MS susceptibility genes? Was I really likely to get rheumatoid arthritis? Is this why my fingers were always so achy in the morning?
    I was drunk, tired, and now fairly certain I was going to succumb to autoimmune disease in the coming months. I began bombarding Mike with questions:
    What about the SNPs that say nothing specific about my risk? Can I assume it is “normal"? Or just unknown? And what about conditions where there are multiple SNPs—are the risks additive, multiplicative, or epistatic? Do I just have to go digging in PubMed?
    PubMed. Start on the rs# page, digg a little bit. Even if you don’t 100 percent figure it out, if you leave notes about what you think you found where, someone else may be able to clarify.
    What about the ones that state a risk but for which there are no text links?
    give me an example.
    What are the #s in the far left column in pink?
    You’re not even trying. Click on help at the top of the report. 33
    I wasn’t even
trying?
Ouch. Even if that were true, in the genetic counseling handbook, saying that to someone—even someone as irrational as me who ought to have known better—was a huge no-no. How dare he! With the click of a mouse I had gone from an ordinary neurotic/depressive who didn’t believe in genetic determinism to a quivering mess who “knew” himself to be a ticking time bomb. The person most likely to talk me off the ledge was both fed up with me and, incidentally, asleep down the hall. Meanwhile the guy on the other end of the screen had had enough, too. My blasé attitude was being tested. We were at the first of many “what in the name of Gregor Mendel does this all mean?” moments. For all of the hundreds of studies that had been done on tens of thousands of research subjects with and without various diseases, the truth was, nobody knew an individual’s risk for complex diseases with certainty.
    It was 1 a.m. I could hear all of the naysayers at the
New England Journal of Medicine
laughing at my mini-eruption of angst.
You were so sure that this information was harmless. How does it taste now, Genomeboy?
    I called Dietrich Stephan. “I think I’m ready to take you up on your offer of a freebie,” I said. “That’s great,” he said. “I’ll get a kit in the mail to you.” 34 A few days later I received a “spit kit,” which was basically a tube I was to fill with saliva.
For best results, collect your sample just before eating a meal and when you are in good health… . To make more saliva, close your mouth and wiggle your tongue or rub your cheeks.
Although I was someone who still drooled when he played the guitar, I found that this took a bit of doing. After a few minutes I reached the fill line. I put the plastic tube in the Styrofoam box and sent it off to Affymetrix, the California DNA-chip company that was processing Navigenics’ samples.
    In a couple of weeks I received an email that my “HealthCompass Profile” was ready. I didn’t rush to look at it. After my semidark night of the soul with SNPedia I didn’t want to barrel through the process this time. After work that day I dithered around, ate dinner, put the kids to bed. When my inbox was finally empty and I had sedated myself with a full thirty minutes of
Puppy Bowl IV
on Animal Planet, I figured it was time. I logged on.
Welcome! Your results are ready!
Genetic counselor Elissa Levin’s smiling face was there to reassure me. The conditions were divided by “estimated lifetime risk”: = 1 percent, 1 percent–10 percent, 10 percent–25 percent, 25 percent–50 percent, and > 50 percent. Each condition had its own box containing the disease name, my results, and the average lifetime risk for males. If the box was orange, I might want to pay closer attention because that meant either my risk was 20 percent or
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