IEEE Spectrum March, 2013 - 58

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Still, these findings are red flags, and one of those flags is
waving in the breeze. My paternal grandfather's kidneys failed
toward the end of his life, I tell the doctors. Could he have had
this same mutation?
"Aha," Eng says, scribbling a note on her copy of the report.
"This would be a situation where if we had more information from
your family, we could rule this in or out as being significant for you."
If my doctor can get access to my grandfather's medical records,
she says, he can determine whether I'm likely to develop this particular kidney disease and come up with a monitoring plan. As I sit
here with some of the nation's top practitioners of genetic medicine,
I imagine a future in which my exome data is integrated into my
electronic medical records. At my first mention of kidney-related
symptoms, a genetic alert for my doctor would pop up.
We go over the rest of the report, discussing a few recessive
diseases that I seem to be a carrier for: There is something called
Usher syndrome, for example, which typically causes congenital
deafness. But I don't know of any deafness in my family. And that's
about it. If the project shows the potential of personalized genetic
medicine, it also demonstrates its current limitations. "There's
still a lot more that we have to learn," admits Lupski. The crystal
ball has turned up a lot of possibilities, and a few shadowy grim
reapers are waving from the murky depths. But the results probably won't change my life in any meaningful way.
When I tell my parents the results, I can't help sounding disappointed. "It's reassuring," I say when we gather around the kitchen
table. "But I expected to find out more that seemed relevant to our
family." My mother asks if I would recommend an exome scan to
others, and I say no, not unless they're trying to answer a specific
medical question. It doesn't make sense now for healthy people to
run out and get their exomes sequenced, because you just don't
find out enough that's "medically actionable," as the Baylor doctors
would put it. But the situation is changing incredibly fast. "Ten years
down the line it might make sense," I tell my mom.
Then comes a surprise that casts doubt on my first judgment
and forces me to see exome sequencing in a new light. In the
weeks following my meeting at Baylor I idly Google the various
conditions listed in the report the doctors gave me. One afternoon I type in "Usher syndrome" and follow a link to a National
Institutes of Health Web page about the disorder. A few sentences in, I feel a shock of recognition. The syndrome, I read, is associated not just with deafness but also with night blindness
and severe balance problems. My mother has been completely
unable to see in the dark for as long as she can remember, and
both she and her older brother have gotten dangerously wobbly
on their feet over the past decade.
I go back to talk to my mother again, and she gasps at my recitation of symptoms: "Oh my gosh, I've got that! And my brother too!"
But as soon as she has internalized the news, she asks the inevitable question: Can anything be done about it? Not much, I tell her.
She would have to undergo a genetic test of her own to see if she
really does have a form of Usher's, and even a definitive diagnosis wouldn't lead to a treatment, because there are none. "You're
at the frontier of genetic medicine," I say, partly because I don't
know what else to say. "It's very rare that a patient can go to the
doctor saying, 'I know about my genes, and now you have to build
your treatment plan around my genetic knowledge.' " She could
be monitored for further vision loss, I offer.

http://spectrum.ieee.org/webinar/2209180 http://spectrum.ieee.org/webinar/2203617 http://spectrum.ieee.org/webinar/2201132 http://spectrum.ieee.org/webinar/2193320 http://spectrum.ieee.org/webinar/2192631 http://spectrum.ieee.org/webinar/2139648 http://www.spectrum.ieee.org/webinar http://SPectrUm.ieee.orG

Table of Contents for the Digital Edition of IEEE Spectrum March, 2013