The US Supreme Court will hear oral arguments this week to decide whether companies can patent human genes, in a landmark case which could alter the course of US medical research and the battle against diseases such as breast and ovarian cancer.
A coalition of scientists, cancer survivors, patients, breast cancer groups and professional medical associations, which has brought the case, will argue that genes are “products of nature,” like organs of the body, and should not be exploited for commercial gain.
Such patents are illegal and violate the First Amendment, they say. They are challenging patents on two genes linked to breast and ovarian cancer owned by Myriad Genetics, a biotechnology company, because they say the patents have stymied research and the free exchange of ideas.
Myriad, based in Salt Lake City, Utah, will ask the court to uphold the patents, which it says is vital compensation for developing a potentially life-saving test to asses the risks of breast and ovarian cancer and to advance medicine. Myriad’s BRACAnalysis test looks for mutations on the breast cancer predisposition gene, or BRCA.
In March 2010, a New York district court agreed with an American Civil Liberties Union challenge to Myriad’s patents on “isolated” forms of BRCA1 and BRCA2, by arguing that genes should not be patented.
However, the US Court of Appeals for the federal court has now ruled twice that the isolated genes patented in Myriad’s case have a “markedly different chemical structure” from DNA within the body.
Breast Cancer Action, one of the plaintiffs in the case, said that the patents have meant that Myriad has become “the gatekeeper of all research on the BRCA gene.”
Karuna Jaggar, executive director of Breast Cancer Action, said that the patents allow Myriad to stifle how researchers, doctors and others can carry out research on the human BRCA genes, to develop an alternative test and to target treatment.
“Myriad is gatekeeping who can do what research on these genes and they are uniquely aggressive in how they control a patent,” Jaggar said.
Nearly 20 percent of the human genome — more than 4,000 genes, including some linked to Alzheimer’s disease and colon cancer — is already covered by at least one patent.
Some are held by companies, while others are held by universities, research institutions and others committed to “open source genomics” who hold them “pre-emptively,” to stop commercial companies from having them.
Jaggar said women currently only have one option if they want to know their genetic risk for breast and ovarian cancer, but the Myriad test is expensive, not always covered by insurance and does not cover all potential causes for hereditary breast cancer.
“The Supreme Court has the opportunity to right this wrong, to correct a problem that could free up human genomics to develop new diagnostic tests” she said.
Many insurance companies do not cover the test because the insurance companies have to negotiate with Myriad, she said.
A brief to the court, filed by the American Civil Liberties Union, states that the patents pre-empt “serious study, clinical examination or commercial or clinical use” of the genes.
Among the plaintiffs are researchers who say they had to halt work because of Myriads patents, and breast cancer survivors who say their health insurance does not cover the US$3,000 test.
Ellen Matloff, director of cancer genetic counseling at Yale Cancer Center and research scientist at the department of genetics, said that, in 2000, Myriad denied a Yale request to screen patients at risk from cancer that Myriad’s standard test was not picking up. A second test was later developed by Myriad to identify women who could have had ambiguous or false negative results, but only in 2006, six years after it was offered by Yale.
“Many genes have been patented before BRCA1 and BRCA2, but no one had clamped down on the way the patents were enforced,” Matloff said. “No one else has done what Myriad has done, but they could.”
“There are very few lawsuits that have come before the Supreme Court that truly effect everyone, but the great equalizer is DNA,” she added.
Eric Lander, a leader in the human genome project and a scientific adviser to US President Barack Obama, has weighed into the issue, filing an amicus brief in the case.
Lander, head of the Broad Institute in Cambridge, Massachusetts, whose brief states it is a personal view and “in support of neither party,” argues that Myriad patents are products of nature, and present an “insurmountable barrier” to studying DNA, with serious repercussions to medical progress.
He asks the court to consider what might have occurred if such restrictive patents had been taken on HIV.
“The patent holder would have been legally entitled to use his patent to block anyone from observing, characterizing or analyzing the virus by any means whatsoever,” he writes.
Weill Medical College assistant professor Christopher Mason, who published a study in the journal Genome Medicine two weeks ago showing that almost the entire human genome is covered by patents, described the patenting of genes as “preposterous.”
“If I go into my laboratory, or even my home — you could do it in your kitchen with US$200 worth of equipment — and purify a gene from your own body and then suddenly, it’s no longer your property anymore, but, in the case of BRCA1 or 2, that of Myriad. That’s preposterous,” he said. “You have to ask, how is it possible that my doctor cannot look at my DNA without being concerned about patent infringement?”
“If these patents are enforced, our genomic liberty is lost,” he added.
Myriad Genetic Laboratories president Mark Capone said the BRCA gene patents concerned “isolated DNA,” which was not a product of nature, and therefore should be patented.
He said that the isolation of the BRCA genes from DNA took 17 years and “US$500 million of investment before we finally broke even.”
Capone said that without adequate intellectual property protection, companies would face significant obstacles conducting pioneering research.
In a brief to the Supreme Court, Myriad argues that the materials and methods protected by the patents were “never available to the world until Myriad’s scientists applied their inventive faculties to a previously undistinguished mass of genetic matter and created a new chemical entity.”
Capone denied claims that the patents had impeded research.
“Myriad won’t and has not impeded research,” he said. “We’ve collaborated with hundreds of scientists on papers and subsidized research.”
He said that the “vast majority” of patients have access to the test, saying that healthcare insurance meant that for 95 percent of patients, their out-of-pocket costs amounted only to about US$100. He said that Myriad had “no record” concerning Matloff’s claim that the Yale DNA diagnostic lab was stopped from developing tests for the BRCA1 and BRCA2 gene.