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Three Billion Pieces Of Data—It’s All In The Genes
By Bill Swisher
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Dr. Thomas A. Sellers believes he may be on the trail of at least a few keys to unlocking some of
the mysteries of ovarian cancer. And he has about three billion pieces of data to back him up.
Sellers, whose doctorate is in epidemiology, is the director of the Moffitt Research Institute and the
associate director for Cancer Prevention and Control at Moffitt Cancer Center. He’s involved in research
to identify factors that may make certain women more prone to ovarian cancer.
“We’re doing that by taking advantage of amazing new gene-chip technologies that will allow us to
look at more than 500,000 individual genetic markers on a single individual, on a single chip” that’s
about the size of a credit card, Sellers said.
The project is in collaboration with medical and research centers at Duke University in North
Carolina, the Mayo Clinic in Minnesota and the University of Toronto. It involves genotyping, or studying
the genetic makeup of cells.
They’re trying to identify “susceptibility genes” that are common among women and indicate, if
considered alone, only a slight risk of getting cancer. “But if a woman was to inherit five, 10 or 15 of
those genes, it might put her at the extremes of the population distribution so you could intervene and
prevent ovarian cancer from occurring,” he said.
“We’ve completed genotyping for about 2,000 women with ovarian cancer and 2,000 without ovarian cancer. That generates about three billion pieces
of data. We’re currently analyzing it to find out where the frequencies of these genetic markers differ between women with ovarian cancer and women
without it. Some of them may be more common among [women who have the disease], in which case you say, ‘That is increasing their risk,’ and some may
be more common among the [women without the cancer] and therefore a protective factor,” Sellers said.
The study will eventually grow until it includes about 12,000 women. Researchers have cast a very broad net, will analyze the data and will take about
the top 20,000 genetic markers that differ between women with ovarian cancer and those who don’t have it.
But if you can identify some of those genetic tendencies, what can you do with that knowledge? One thing, Sellers said, is identifying risk and then
doing something about it.
“If a woman is at high enough risk for ovarian cancer, you could ‘intervene,’ or do things to lower that risk. Taking oral contraceptives would be one
thing. We know that women who have used oral contraceptives for at least six months lower their risk of ovarian cancer by 40 percent or more. We don’t
know why that is or how it occurs, but it is extremely consistent.
“The next more intensive intervention would be having one’s tubes tied—tubal litigation—after you’re through with having kids. That lowers risk of
ovarian cancer by 20 to 30 percent. We also know having your ovaries removed greatly lowers risk. Obviously, that’s something you want to do only if you’
re at very high risk; it’s a significant surgery,” he said.
Another part of Sellers’ research points to environmental concerns as a possible cause of the disease.
“One of the genes that is emerging right now is inducible by dioxin. It’s a common byproduct of many manufacturing processes, and doesn’t break
down in the environment. Ultimately, it gets in our food supply, and the EPA estimates that’s where 95 percent of our exposure comes from. So our genetic
research might tell us something about non-genetic causes of ovarian cancer.
By starting with understanding the genetic susceptibility, this same gene is something that can be treated with a new category of therapeutics that is
now being tested in clinical trials.” That would let doctors tell a woman, “If you carry this genetic marker, here’s how we’re going to treat your disease” if you
get ovarian cancer, Sellers said.
So the overall goal, he said, is “identifying high risk, intervening in the natural history so that, hopefully, they never become a case, identifying
environmental factors like dioxin, and then improving the care of our patients.”
Dr. Thomas A. Sellers
Director of the Moffitt Research Institute