Every time a woman is tested for gene mutations linked to significantly higher rates of breast and ovarian cancer, her blood is sent to a lab in Utah.
That's because Salt Lake City-based Myriad Genetics Inc. owns the patents to the BRCA 1 and BRCA 2 mutations, giving it control over all research and testing done nationwide. The company charges thousands of dollars for each set of results.
The patents have become the subject of a legal fight that could soon head to the U.S. Supreme Court and have sparked a broader discussion about the fast-evolving field of genomics and so-called personalized medicine, in which treatments are tailored based on a patient's genetic makeup.
Scientists, lawyers and bioethicists say the outcome of the legal and ethical debate could impact research and patient care.
Civil libertarians and patent opponents object to companies claiming they have invented what nature has wrought and contend that such patents hinder life-saving research. Corporate patent owners say their scientific ingenuity is needed to isolate the genes and that research could stall without the protection of patents.
"If I want to look at the data in my genome from the computer in my basement or wherever, I should be able to or my doctor should be able to tell me," said Jeffrey Kahn, professor of bioethics and public policy at the Johns Hopkins University's Berman Institute of Bioethics. "But the standard argument is that if we don't respect patents, there will be less incentive to do research and development. There is a collision course coming."
The potential implications are staggering, given that what's at stake is control over basic biological units of heredity.
Corporations and scientists hold patents on 20 percent of the human genome and could limit what doctors study and share when it comes to protected gene sequences linked to Alzheimer's disease, Huntington's disease and colorectal cancer, among other illnesses. Patents give owners rights to the intellectual property for at least 17 to 20 years.
The BRCA 1 and BRCA 2 mutations are responsible for most hereditary ovarian and breast cancers. Many women with the mutations take extreme preventive measures, such as breast and ovary removal. While hereditary versions of the disease are a small percentage of total cases, the mutations increase breast cancer risk by 82 percent and ovarian cancer risk by 44 percent.
The American Civil Liberties Union originally brought a lawsuit against Myriad Genetics in 2009 on behalf of about 20 scientific organizations and patients, and a panel of the U.S. Court of Appeals for the Federal Circuit in Washington upheld the patents earlier this month — the second decision in the company's favor. The Supreme Court had asked the court to reconsider its initial ruling last year.
"No one is really enforcing their patents like Myriad, so this is really a landmark case," said Joann A. Boughman, executive vice president of the American Society of Human Genetics, which was not a plaintiff but which does not support gene patents. She also said that BRCA is "probably the poster child for gene mutations because everyone knows someone with breast cancer and has had the test."
The latest court ruling "creates confusion in the community out there about what can be done legally."
The ACLU argued that the mutations were naturally occurring, unlike manmade drugs, and therefore not patentable under U.S. law. Myriad countered that manmade processes were used to isolate the mutations.
At the time, Peter Meldrum, Myriad president and CEO, said in a statement he was pleased that "the court agreed with Myriad that isolated DNA is a new chemical matter with important utilities which can only exist as the product of human ingenuity."
The ACLU has not decided whether it will appeal, though that's widely expected. In the meantime, ACLU officials say there are important consequences.
"The most direct effect is they get to dictate the price of the tests," said Sandra Park, an ACLU attorney. The primary BRCA test costs $3,340, and a supplementary test is $700.
Others involved in research and patient care say the patenting could have far-reaching implications.
An advisory committee on gene patents raised the issue in a 2010 report to the secretary of the U.S. Department of Health and Human Services. It concluded that the patents would limit the development and availability of tests, limit access to testing if a patent provider does not accept a patient's insurance, and limit multigene testing, which has "the greatest potential future benefits."
The report by the Advisory Committee on Genetics, Health and Society found more than 50 public and private entities offer testing for cystic fibrosis and Huntington's disease but that most could be eliminated if patent holders enforce their rights.
Others also point to the pitfalls of patenting. For example, researchers at the University of Washington have found other inherited mutations for breast and ovarian cancers using multiple genes, not just BRCA 1 and BRCA 2, to estimate cancer risk. But patents could delay useful tests, make them prohibitively expensive or keep them from the market, warned Dr. James Watson, who identified the DNA's double helix decades ago and wrote a brief in the Myriad case.
Watson said researchers should not expect a "windfall" for revealing the sequence of DNA that encodes various genes.
"DNA's importance flows from its ability to encode and transmit the instructions for creating humans," he wrote. "Life's instructions ought not be controlled by legal monopolies created at the whim of Congress or the courts."
Myriad insists it's not seeking to stop testing. Officials said in a statement that they have conducted close to 1 million BRCA tests and about 95 percent of the results have been paid for through public or private insurance or Myriad's financial assistance program.
On research, they said 18,000 scientists have done studies on BRCA genes and published more than 9,000 papers since they first filed for a patent in 1995.
In an email statement, Rebecca Chambers, a company spokeswoman, said Myriad's mission is providing women with information that could help save and improve their lives.
"Over the last twenty years, the company has invested hundreds of millions of dollars, and countless hours, educating patients and health care providers on the role BRCA 1 and BRCA 2 play in hereditary breast and ovarian cancer," she said.
Research, however, may soon yield another problem. Scientists expect to be able to sequence a person's entire genome in a few years for as little as $1,000, or less than one-third of Myriad's BRCA test price.
Doctors could cut out many diagnostic "middle men" by evaluating all known mutations that raise disease risk at once and recommending preventive measures, said Kahn, from the Hopkins bioethics institute.
But the court ruling upholding a gene patent could discourage doctors from revealing patented mutations because the patent owners control the testing for those, he said. That would violate medicine's "bedrock principle" that people should be able to know their personal medical information.
For now, some dismissed fears of big and immediate consequences, including Tim Worrall, a biotech patent attorney with Dorsey & Whitney who was not involved in the case.
That's because the courts will likely have more to say. The Supreme Court has indicated that it would set limits on patents in a recent ruling in a separate case about medical processes. In that case, Mayo v. Prometheus, the high court found that a method used to determine how much drug to administer to safely and effectively fight disease could not be patented because drugs are metabolized through natural processes.
The legal uncertainty could make investors "careful" about investing in companies whose patents are DNA-related until the Myriad case is resolved, Worrall said. And biotech companies aren't likely to scramble to patent more genes, he said.
"Companies will continue to enforce their patents to DNA but may choose to watch the appeal carefully because the outcome of this case will determine the best course of action to enforce patent rights," he said. "A decision that reverses the court's conclusion that DNA is patentable would have a negative impact on the biotech industry."
The next court to hear the Myriad case, either the full appeals court or the Supreme Court, needs to provide clarity, said Hank Greely, director of the Center for Law and the Biosciences at Stanford University.
In its ruling, the appeals panel said Myriad could patent gene sequences but not its methods of analyzing them. So Greely said the company may not have the right to stop others from developing a different method of comparing patients' mutated and normal genes to determine disease risk. Myriad doesn't dispute this, as long as the test doesn't infringe on Myriad's intellectual property, company officials said.
In the end, the calendar may usher in the biggest changes. Greely noted that Myriad's patents will begin expiring in 2015 and that most other gene patents, established years ago, expire in less than a decade.
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