When attorneys for Salt Lake City-based Myriad Genetics Inc. appear Monday before the U.S. Supreme Court, the company will have little riding financially on a decision that eventually will determine whether it holds valid patents on two human genes linked to breast and ovarian cancers.
But the highly charged case being heard in oral arguments raises issues that are strongly personal for women who suffer from or are particularly susceptible to genetically linked cancers. And they're vitally important to researchers and a whole range of industries with financial stakes in gene-related patents.
A much-anticipated written decision by a majority of the justices at some point will bring to a close a lawsuit filed in 2009 against Myriad and the University of Utah that poses a classic question: Whether human genes isolated from the human body are eligible for patent protection or remain products of nature that cannot be patented.
The arguments Monday in Washington, D.C., are very likely to focus on that question, which has been answered in different ways by judges as the lawsuit brought by the American Civil Liberties Union and the Public Patent Foundation against Myriad and the university has wound its way to the nation's highest court.
The genes in question, labeled BRCA1 and BRCA2, were discovered and patented in the early 1990s by the University of Utah and other institutions, and then licensed to Myriad or patented by it. Mutations of the genes signal a very high risk of breast or ovarian cancer, and detection of their presence has implications for treatment and attempts at prevention.
Armed with the patents that gave it exclusive rights to the genes, Myriad attracted $500 million of capital that it used to develop tests to detect the mutations and carry out clinical trials and education campaigns. The latter were aimed at doctors, patients and insurance companies to promote the utility of tests for detection and treatments.
"It took Myriad 17 years to break even after a $500 million investment," said Mark Capone, president of Myriad Genetic Laboratories, who said as a result of the company's research, it has been able to test more than 1 million patients.
Without that patent protection, the company says it is unlikely that kind of money would have been poured into research and development. It also points out that research by others has not been stifled, with 10,000 research papers published about BRCA1 and BRCA2.
But Kenneth Chahine, a University of Utah law school professor, said based on a recent unanimous Supreme Court decision, he believes the high court will rule that the isolated genes are not eligible to be patented based on precedents that say products of nature and knowledge such as mathematical rules do not qualify. That said, he believes that a negative decision toward Myriad would not be a correct interpretation of patent law.
Myriad's test algorithm, a process or set of rules for detecting the presence of mutations in the BRCA genes, is very specific to that one use, he said.
The court is"looking at this as, 'It's an algorithm and therefore not patentable,' " Chahine said. "Of course it's an algorithm but it's being used for something very specific and very narrow, and in that case, you should grant patent protection."
Still, Myriad officials have said that the patents in question are only a small part of its portfolio, and that a negative decision won't have a significant impact on the publicly traded company's finances.
Myriad argues that it is not patenting a gene from a human body but rather from chemicals isolated from the body that are substantially different from those that reside in specific places on the human genome.
"What we actually created was the sequences for the BRCA1 and 2 genes," said Capone. "It was created because these don't exist in nature. They don't exist in the human body as a separate chemical molecule."
Without that separation from the body, the genes could not be tested for mutations, said Richard Marsh, the company's executive vice president and general counsel.
"This new chemical entity, not found in nature, has very significant and important new utilities which cannot be accomplished with genomic DNA," said Marsh.
But the ACLU, which filed the lawsuit on behalf of cancer patients, medical groups, researchers and women's health advocates, argues that the isolated genes remain substantially the same as if they still resided in their natural place in the body.
"Removing the genes from the cell does not create an invention," said Sandra Park, ACLU co-counsel on the case. "The gene still remains a product of nature, and its connection to disease is a law of nature."
The ACLU also is bringing the weight of Joseph Stiglitz, a professor at Columbia University and recipient of the Nobel Prize in economics, to bear on Myriad. Specifically, the advocacy group and Stiglitz are challenging the contention that without patent protection there would not be so much money poured into genetic research, making fewer tests and treatments available. In a conference call earlier this week arranged by the ACLU, Stiglitz said research has shown gene patents hinder innovation and research.
"The evidence is overwhelming … that these kinds of patents on genes actually are impeding further research into this area," he said.
Stiglitz was backed by Ellen T. Matloff, the director of genetic counseling at the Yale Cancer Center, said the patent has meant that Myriad also has been able to prohibit others such as her center from offering tests, even when they covered areas beyond those of Myriad's products.
"The patents that Myriad Genetics holds have allowed them to have this exclusive monopoly," she said. "No one else can do testing; no one else can compete; no one else can offer a more comprehensive test."
That theme was echoed by Kathleen Maxian, who is undergoing treatment for stage 4 ovarian cancer and who blames Myriad for limiting the number of groups that can provide BRCA gene testing.
Had her sister, who suffered from breast cancer, been able to get a more comprehensive test than that offered by Myriad, Maxian believes she would have had early notice of her own risk and taken steps to prevent the ovarian cancer.
"I can't stand up to take my genes back," Maxian said after describing her own suffering and that of her family. "I stand up to help you take your genes back."
That emotional quality is one reason the ACLU chose to challenge the Myriad genes, observers say. About 20 percent of genes are under some kind of patent.
If the court overturns the Myriad patents, other patents also would be in jeopardy, said the U.'s Chahine, although the ACLU's Park said a determination would have to be on a case-by-case basis.