The Gene Machine PDF

The Gene Machine PDF



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Preface

“He’s perfect,” pronounced the pediatrician at my two-week-old son’s inaugural check-up. I flushed with happiness. What a nice thing for a doctor to say to an insecure first-time mom. And yet he was wrong. We all have genetic mutations. In fact, each human being kicks off life with about sixty new mutations, or changes in their genes.
Some are more obvious than others. Some cause problems, others don’t. Nobody’s perfect, the adage goes. When it comes to our genes, that’s especially true.
In 2007, when I was pregnant with my third child, a routine ultrasound revealed a cyst on my daughter’s developing brain. Flat on my back in a darkened room, ultrasound goo smeared on my belly, I froze. Contending with any ominous-sounding “cyst” would have been bad enough, but processing the idea in conjunction with my baby’s brain, her tiny body’s command center, was chilling. I heard the doctor say that such bubbles frequently go away but may also indicate trisomy 18, a devastating genetic condition that is often fatal soon after birth, if not in utero. I could opt for what doctors call “watchful waiting,” keeping tabs on the cyst via ultrasound as my pregnancy progressed, or I could choose an amniocentesis—a needle inserted into my womb—to suction DNA for analysis from my daughter’s skin cells, free-floating in my amniotic fluid. In skilled hands, the risk of miscarriage is very low, but it still exists. What did I want to do?
I am an information junkie, so for me the decision was clear: my husband and I went straight from my doctor’s office to the office of the specialist who would do the amnio. It was a quick, if sharply painful, assault on my midriff. Predictably, I spent the next day or so panicked that I would miscarry, wondering if I’d made the right choice. Then, on a Saturday afternoon in January, on my middle child’s second birthday, the phone rang. The lab was calling to reassure me that initial results showed all the chromosomes where they should be. I sank onto the couch, folded the birthday girl, Shira, in her purple velvet frock and with her budding blond curls, into my arms, and cried with relief.
Imagine my confusion a few days later when our mail carrier shoved a copy of the lab report, which I’d requested, through the mail slot. The amnio had indeed ruled out trisomy 18, but it had inadvertently revealed that my baby had a different, unrelated condition: inversion 9, a transposed ninth chromosome. For some reason, the top portion of the chromosome had landed on the bottom; the segment that was supposed to be on the bottom had migrated to the top. All the relevant information was still there; it’s akin to putting your underwear in your socks drawer and your socks in the drawer reserved for undies. You could still find the wayward socks and undergarments, arranged neatly—they just wouldn’t be where they ordinarily reside.
It was, I learned, one of the most common genetic errors. Even the lab report dismissed its relevance, its technical language reassuring me that this genetic blooper was benign or, in the language of the lab, “not associated with clinical effects.” Perhaps, but I quickly found that knowing about it was strongly associated with emotional effects. One of my daughter’s chromosomes was upside down and I wasn’t supposed to worry? What’s more, it was highly likely that either my husband or I had the same inversion, considering that the lab report noted that this topsy-turvy presentation was considered a “normal familial variant.”
To allay my fears, I took the ill-advised yet irresistible path that so many of us tread when faced with unfamiliar health-related information: I paged Dr. Google. I came across one small study that indicated an increased risk of schizophrenia, a finding that still makes me blanch when my daughter, Orli, throws a tantrum or acts particularly irrational, traits that—let’s be honest—are not wholly uncharacteristic of the average grade-schooler.
Still, I wasn’t prepared for this surprise genetic discovery; nor are countless other parents who encounter similar situations. And yet our growing reliance on a constantly expanding arsenal of genetic tests to enhance our understanding of our children at their most basic cellular level means that this scenario is becoming routine. It’s not that I wish I didn’t know; I’m glad I know, because now, if new research is published that finds Orli’s error correlates with disease, I’ll be paying close enough attention to delve into that research and see what I can do, if anything, to reduce her risks. Over the years, I’ve assimilated the news of Orli’s genetic anomaly, incorporating it into the vivid panorama that is my tennis-playing, panda-obsessed youngest child. I can’t honestly say that I think about her chromosomal quirk on a daily or even weekly basis, but it does pop into my mind from time to time (remember those tantrums?), and sometimes I wonder: What if the lab report is wrong?
I first started paying attention to the increasing role that genetic testing is playing in children’s health back in 2011. I was covering parenting and pediatrics for Time and received an email from Pediatrics, the official journal of the American Academy of Pediatrics, about an intriguing study. The research explored parents’ eagerness to subject their children to tests that transcended the boundaries of the ever-growing catalog of genetic diseases comprising the routine “newborn screening” regimen that takes place in hospitals across the country. The research in question was fascinating: in a large group-practice health plan, 219 parents were offered testing for themselves for genetic variants associated with increased risk of eight fairly common adult-onset conditions—heart disease, high blood pressure, high cholesterol, Type 2 diabetes, osteoporosis, and cancers of the colon, skin, and lung. Asked if they’d like the same genetic testing for their children under age eighteen, the parents indicated that they thought the benefits of testing their kids outweighed any risks. Their gung-ho attitude seemed to stem from a belief that testing could certify their kids as grade-A healthy.


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