Editor's note: On June 13, 2013, the Supreme Court, delivered its long-anticipated ruling in Association for Molecular Pathology v. Myriad Genetics. In a victory for the American Civil Liberties Union, the Court ruled that genes cannot be patented. The ruling invalidated Myriad's key ownership claims over BRCA1 and BRCA2, two of the most important (and often deadly) players in hereditary breast cancer, and effectively overturned 30 years of patent practice.
"A naturally occurring DNA segment is a product of nature and not patent eligible merely because it has been isolated," wrote Justice Clarence Thomas in the unanimous decision. "It is undisputed that Myriad did not create or alter any of the genetic information encoded in the BRCA1 and BRCA2 genes."
Lately I have been thinking a lot about breasts. Well, not exactly breasts, but about two of the handful of genes that influence whether breasts develop cancer. These genes are called BRCA1 and BRCA2, and among the reasons I've been mulling them is that, in addition to determining the fates of many people I know and love, they are about to determine the outcome of one of the more provocative debates now raging in the overlapping fields of medicine, biotechnology, and law: Can genes be patented?
Reasonable people might assume that the answer would be no-or, rather, hell no. But since the 1980s, the position of the U.S. Patent and Trademark Office has generally been yes, and the agency has happily doled out tens of thousands of patents to corporations, universities, and other institutions eager to cash in on the genomic revolution. Today there are patents on genes that influence everything from Alzheimer's disease (patent holder: Athena Diagnostics) to taste (patent holder: the University of California). By some estimates, as much as 40 percent of our genetic material has been patented.
This could all change in the next few days, however, when the Supreme Court rules in Association for Molecular Pathology v. Myriad Genetics, a case brought by the American Civil Liberties Union that directly challenges the idea of patenting genetic material. For the Court, the decision hinges on the rather esoteric question of whether genes, when isolated from the body, are "products of nature," which cannot be patented, or "human inventions," which can be patented. The ACLU is arguing the product-of-nature position; Myriad is arguing the human-invention angle. ("Genes are themselves a human construction," said Myriad's lawyer, Gregory Castanias, sounding fantastically postmodern during his Supreme Court argument.)
For the public, however, the case is at once far more prosaic and far more essential. It's about public health, personalized medicine, the cost of medical care, and the ability of scientists to conduct their research. It's about a question as timeless and basic as our own existence: Who owns our common genetic material, and can it be privatized?
The two genes are the heart of this question, BRCA1 and BRCA2, were both patented in the late 1990s by a Utah-based company called Myriad Genetics. These genes exist in all people, but with significant variations that have potentially grave consequences. In their healthy forms, BRCA1 and BRCA2 act as tumor suppressors, reigning in unruly cell growth and division; in their mutated forms, by contrast, they falter at this caretaker task, putting those unlucky enough to possess these versions at high risk for certain cancers. According to Myriad, women with certain BRCA1 and BRCA2 mutations run as much as an 87 percent chance of developing breast cancer by the time they're 70, while their risk of ovarian cancer runs as high as 44 percent.
If this is beginning to sound familiar, perhaps it is because you read one of the hundreds of articles about Angelina Jolie's recent decision to get a prophylactic double mastectomy after learning that she carried a particularly lethal BRCA1 mutation. Or maybe you or someone you know had the bad luck to inherit a bum version of the gene. In my own family's case, mutated BRCA1 has been a particularly cruel kind of inheritance, an unwanted heirloom handed down through the generations of my paternal grandfather's line, ultimately killing my great-grandmother, several cousins, and my aunt, who died of breast cancer at age 42. By some twist of DNA, my mother did not inherit the faulty gene, and my sister and I were spared as well. The reason we know this is that we got tested by Myriad.
Like many who got the Myriad test, the women of my family feel genuine gratitude to the company that helped clarify at least part of our genetic fates. But there is also the knowledge that, in yanking the BRCA genes out of the realm of public resource and into the realm of profit and monopoly, Myriad has damaged the very cause its discovery was supposed to help. As Sandra Park, staff attorney at the ACLU, explains, "The simple fact is that Myriad did not invent the genes, but because they have been allowed to patent them they've created barriers to patient access as well as genetic testing and research by scientists."
To understand how Myriad built these barriers, it helps to go back to the beginning, to the story of how Myriad got its patents in the first place. Myriad contends that its scientists discovered the BRCA genes, and, as a result, have the personal right as well as the social obligation to reap financial benefit. Yet the real story of the BRCA genes' discovery is at once a good deal murkier and more collaborative.
As it happens, the original credit belongs to the geneticist Mary Claire-King, who first pinpointed the location of BRCA1 and its relationship to hereditary breast cancer in 1990. Working off her discovery, scientists in several states and countries then raced to become the first to sequence the gene. Sometimes they collaborated, other times they competed, until, in 1994, Myriad announced that it had gotten to the finish line first. Interestingly, the company had received funding from both venture capitalists and the National Institutes of Health, which had also contributed scientific research. But when it came time to file the patents, it left the NIH off the application.
With BRCA2, Myriad was also not the solo pioneer it has claimed to be. It was, in fact, a British team that discovered the location of the gene on chromosome 13 and sequenced it before anyone else. Myriad only succeeded in wrangling a patent from the U.S. Patent Office by racing to sequence the gene on its own and declare victory before the British team's discovery was officially published in 1995. It did so with just a few hours to spare.
With all this as backdrop, the rest of the BRCA story begins to fall into place: Myriad was not the first to invent or even really discover the BRCA genes; it was, rather, the first to claim and monetize them.
Myriad was awarded its first BRCA patents-enormously far-reaching patents-in 1998. These patents did not simply grant Myriad the rights to its particular method of sequencing and testing BRCA1 and 2, it gave the company the actual genes in both mutated and non-mutated forms. To understand exactly how extreme this is, imagine if a company were allowed to patent the chemical structure of oxygen-or, to be slightly less dramatic, tin. That company would be able to control if, where, and by whom tin gets extracted as well as how it is used and how it gets turned into whatever it's being used as. Talk about a monopoly.
This is effectively what Myriad did, but with two of our genes. Among its first steps? Slapping cease-and-desist orders on labs that were providing diagnostic testing (or were simply considering providing testing). These labs, it's worth mentioning, were not fly-by-night operations run by crackpot researchers but serious facilities at Yale, the University of Pennsylvania, New York University, and elsewhere. Once they were out of the way, Myriad effectively become the sole provider of BRCA testing in the United States.
The consequences of this monopoly have paid off nicely for Myriad-which raked in more than $400 million from its BRACAnalysis test in fiscal year 2012-but have been painfully pricey for patients. Today, the cost of Myriad's most basic BRCA test runs more than $3,300, though other labs and companies could provide it far more cheaply. Myriad says that insurance covers most of these tests and the "average patient" pays less than $100, but the fact is that even if that were true, someone would still be overpaying for the tests. As it happens, many patients still end up footing oversized bills, and stories of patients who are unable to afford the test are, well, myriad.
Lisbeth Ceriani, a named plaintiff in the Supreme Court case, is one of the women who can't afford the price of her own DNA. A single mother diagnosed with breast cancer at 42, Ceriani would desperately like to get tested for a BRCA mutation so that she can decide whether to take the radical-and, possibly, radically necessary-step of removing her ovaries. The problem is that Myriad has refused to contract with her health insurance, MassHealth, and Ceriani can't afford the full fee herself.
Such stories are scattered about the BRCA-testing landscape, but the truth is that affordability has been only one of the casualties of Myriad's monopoly. Comprehensiveness and accuracy have also suffered, as Mary-Claire King and a dozen colleagues revealed in a study published in the Journal of the American Medical Association in 2006. The study looked at the DNA of 300 individuals whose families had strong histories of breast and ovarian cancer. All 300 had tested negative for a BRCA mutation using Myriad's test, but when King and her colleagues analyzed the genes using a range of screening methods, they found that 12 percent actually possessed significant mutations that Myriad had missed. The reason? Though scientists had identified more than 1,000 disease-linked BRCA mutations, many were rare, and Myriad's test focused primarily on the five most prominent.
Since King's study, Myriad has begun offering, though not exactly promoting, an additional version of its BRCA test. This test is more comprehensive, though not completely so. It also costs $700, meaning, once again, that many patients can't afford it.
The problems don't end there. While Myriad has reserved its most aggressive tactics for staking out and guarding its genetic-testing monopoly, it has also used its patents to define and restrict research-an irony since Myriad argues that patents are necessary to promote scientific inquiry. Among the more significant examples is the vast database of test results that Myriad has closed off to all but its own scientists. In the early days, it shared this data with the Breast Information Core mutation database, which the NIH founded for the purpose of providing researchers with a large pool of genetic material to study breast cancer-linked genes. With this data, scientists could have done so much smart research, including helping to map the significance of the many BRCA mutations whose implications are still unknown. But that era is long over.
Or maybe not. Within a matter of weeks, even days, the Supreme Court will decide whether companies like Myriad and others can continue to build these kinds of walls around the public's DNA. At stake are lives, scientific knowledge, business models, and genes-thousands upon thousands of genes that influence everything from diabetes to muscular dystrophy to hearing loss.
But there is also something more nebulous at stake: a principle that insists that, in this patented, privatized, trademarked world, some things cannot be owned. "A ruling that says human genes are products of nature, that they should be part of the storehouse of knowledge, would reinforce the principle that some things belong to the commons," says the ACLU's Sandra Park.
Nearly 60 years ago, Jonas Salk offered one of the pithiest, and most enduring, declarations of this notion during a televised talk with Edward R. Murrow. It was 1955, shortly after the polio vaccine had been discovered, and Murrow wanted to know who owned the patent. Without pausing, Salk famously replied, "Well, the people, I would say. There is no patent. Could you patent the sun?" And then he laughed.
