Runi Limary got the shocking news when she was just 28: breast cancer.
Her first decision was simple. She had her right breast removed. Two years later, after receiving an inconclusive test result for a gene mutation that greatly increases the likelihood of breast and ovarian cancer, she had her left breast removed.
Limary's third decision has proved harder. Though she wanted a second, independent opinion before taking the preventive measure of having her ovaries removed, she didn't have that option because one company, Myriad Genetics, holds patents on isolated forms of the two genes in question.
Now 36 and single, Limary doesn't want to foreclose childbirth by having her ovaries removed. But her child-bearing clock may not be the only one ticking.
"It's so frustrating," says Limary, whose Asian-American lineage makes her more susceptible to the "genetic variant of uncertain significance," the muddled test result she received. "I'm really trying to buy time until I'm about 40."
At the root of Limary's dilemma is a question that will come before the Supreme Court on Monday: Can human genes be patented?
The answer could have sweeping significance for scientific research and medical treatments in a broad array of fields, from agriculture and animal health to biotechnology and the environment. Myriad Genetics and a broad array of industry trade groups argue that without patent protection, research and development would dry up. Doctors, geneticists, women's health groups and cancer patients contend competition would lower prices, improve outcomes and lead to more discoveries.
Both sides envision the same future: a world in which the type and timing of preventive screenings and prescription drugs are tailored to each individual, rather than relying on generic guidelines. "It's about the future of personalized medicine for every single human being on this planet, and actually animals, too," says Ellen Matloff, director of cancer genetic counseling at Yale School of Medicine.
Limary and Matloff are among the original plaintiffs in a legal tussle that has been fought for four years, with mixed results. A federal district court in New York sided with the challengers. A divided court of appeals that handles patent cases sided with the company.
Prior rulings have made clear that "laws of nature, natural phenomena and abstract ideas" are not patentable. "Einstein could not patent his celebrated law that E = mc²; nor could Newton have patented the law of gravity," Justice Stephen Breyer wrote, quoting from a 1980 decision by Chief Justice Warren Burger.
But since 1984, the U.S. Patent and Trademark Office has granted more than 40,000 patents tied to genetic material — including Myriad's patents on the extraction and isolation of the BRCA1 and BRCA2 genes. Armed with those patents since the late 1990s, the company has tested more than 1 million women for mutations that often lead to breast and ovarian cancer.
The legal, medical and moral questions boil down to this: What did Myriad do to earn its exclusive patents? The company's brief to the court cites its "human ingenuity" in isolating the gene. A coalition of doctors, researchers, geneticists, patients and others says under that theory, "leaves isolated from trees would be patentable."
Neal Katyal, the former acting U.S. solicitor general who argued against the patent at the appeals court level, flatly calls it "the most interesting case I've ever worked on, by far."
'ANYTHING UNDER THE SUN'
The Patent Act of 1952 declared that patents could be issued for "anything under the sun that is made by man" — a phrase Myriad cites in its brief. More than 30 years later, the first gene patents were issued.
In 1990, geneticist Mary-Claire King discovered an abnormality on chromosome 17 that proved to be the breast cancer gene, leading to its isolation by Myriad scientists and the awarding of patents later in the decade. As a result, most women who want testing must pay its price — $3,340 for the breast cancer analysis and $700 for an additional test, called BART, which picks up a genetic link in about 10% of women who test negative the first time.
In 2001, the Patent and Trademark Office ruled that isolated DNA was patentable. By some estimates, 20% of human genes have been patented. In 2009, the American Civil Liberties Union filed its lawsuit.
The company claimed to have created a chemical composition that advises patients of their cancer risks. "They were never available to the world until Myriad's scientists applied their inventive faculties to a previously undistinguished mass of genetic matter in order to identify, define and create the isolated DNA molecules," the company's brief says.
Myriad's defense of its patents has attracted more than twice as many supportive briefs as those challenging the patents have attracted. They come from drugmakers, intellectual property owners, venture capitalists and groups involved in biotechnology, agriculture and animal health.
The Biotechnology Industry Organization, a trade group, says isolated DNA molecules are used for vaccines, food safety, agriculture, industry and environmental work.



To change patent law "would make the United States the only developed country to take such a restrictive view of patent eligibility," thereby deterring research and development, it says in its brief. That would result in "potentially grave consequences for America's global economic and scientific leadership in biotechnology."
RESEARCHERS CRY 'DIRTY POOL'
Matloff has battled Myriad since 1998, when the patents stopped many of her patients from getting the tests they needed. Other genes had been patented, she said, but most of those patents were not enforced rigidly. "No one before has played dirty pool the way Myriad has played dirty pool here," she says.
Myriad's president, Mark Capone, says the company doesn't hinder outside research; he notes that about 18,000 scientists have published more than 10,000 papers on the subject. But after spending 17 years and $500 million on research and development, he says, Myriad is a worthy sole provider of the tests.
Harry Ostrer, a medical geneticist at Albert Einstein College of Medicine, located at Yeshiva University in New York, focuses his research on people who do not have the gene mutations but have a genetic predisposition for breast cancer. He says many women are told they have only a low risk, when in fact it's greater.
"There may be under-reporting with regard to risks," says Ostrer, whose 1988 letter from Myriad demanding royalty payments has left him as the lone original plaintiff with legal standing in the case. "There may be a catastrophe in the making."
Myriad officials maintain that in Europe, where U.S. patent law does not apply, competition hasn't improved outcomes. Dozens of laboratories conduct breast cancer screening tests, patients are tested only after developing cancer, results take longer, a higher percentage are inconclusive — and costs are roughly the same, the company says.
By acting as the sole provider of the tests, Capone says, Myriad achieves economies of scale that competition would erode. "We consider this a DNA factory and not a DNA laboratory," he says of the company's Salt Lake City facility.
Millions of women do not get the tests for a number of reasons — high costs, no health insurance or simply not knowing their options. A brief submitted by breast cancer and women's groups cites a "disproportionately harmful effect on those who are socioeconomically disadvantaged and underserved or are of particular racial and ethnic backgrounds."
Debra Greenfield of the UCLA Institute for Society and Genetics, the lawyer representing the women's groups, says African-American women are 78% less likely to use genetic testing — and more likely to die from breast or ovarian cancer.
"The price of the test is necessarily prohibitive," she says. "Anytime there's a monopoly, there's going to be higher prices."
Myriad says about 95% of its patients receive insurance coverage, often without co-payments, so most patients pay only about $100. Even so, about 6 million women with family histories of breast or ovarian cancer remain untested.
"We have still barely scratched the surface," Capone says.
TOUGH DIAGNOSES AND DECISIONS
Kathleen Maxian's sister was diagnosed with breast cancer at the age of 40 in 2007. She tested negative for the BRCA1 and BRCA2 gene mutations, which was a relief for Maxian, then 45.
Two years later, Maxian, a resident of Pendleton, N.Y., near Buffalo, was diagnosed with advanced-stage ovarian cancer. When she said it couldn't possibly be genetic because her sister had undergone testing, her doctor looked down, then asked for a copy of the report. "She knew something was wrong," Maxian says.
As was typical at the time, the separate $700 BART test not covered by insurance companies had not been ordered. Since Maxian's sister was the first in her immediate family to get cancer, she did not meet the criteria for the additional test. When she finally got the test, it came back positive.
Maxian, who in 2009 was given a 20% chance of living five years, says having that information in 2007 would have led her to have her ovaries removed before developing cancer or when it was at a much earlier stage. Married late in life and with no plans to have children, she says, "it would have been an absolute no-brainer." Instead, she has had three recurrences requiring chemotherapy and is living with the original prognosis, hoping to beat the odds.
Like many other women and researchers, Maxian gives Myriad credit for developing the genetic test in the first place — she just doesn't think it deserves a patent that prevents competition.
"Lives have been saved because of this," she says. But "I think that there are a lot of women who, had they had this testing, would have found out that they could have prevented their ovarian cancer."
Genae Girard is on the other end of the spectrum. Diagnosed with breast cancer in 2006 at age 36, she tested positive for the gene mutation, making her five times more likely to get a recurrence or develop ovarian cancer.
It would have been nice to get a second opinion, Girard says — but the patent made that impossible. So she had her breasts and ovaries removed, denying her the chance to give birth.
Capone says women can get "confirmatory testing" at other labs but are unlikely to get a more accurate result. For all the complaints about cost and competition, Myriad isn't often accused of inaccuracy.
"This was my last chance of having kids," says Girard, like Limary an original plaintiff in the case. The pair are among about 200 women 45 and under in the Austin area who have dubbed themselves the "Pink Ribbon Cowgirls."
"I had to make a decision," Girard says. "Do I cut short my life, or do I try to extend my life?"