Inside the lawsuit that ended the patenting of genes in the United States
Defense of the genome: in the epic legal battle to determine who owns your DNA Jorge L. Contreras Algonquin (2021)
Not that long ago, if you were to ask someone about the practice of the United States Patent and Trademark Office of granting patents on human genes, you would probably get one of two answers. . Biotech insiders would shrug their shoulders – such patents had been common practice for decades. They were considered a mainstay of the nascent genetic testing industry. Those who are less intimate with the inner workings of biotech often have a different reaction: “But that’s just… wrong,” lawyer Chris Hansen said. “Who can we sue?” “
In 2009, Hansen, a veteran of civil rights cases at the American Civil Liberties Union (ACLU) in New York City, engaged in a lawsuit that ended the patenting of genes in the United States. The effort seemed doomed to fail, but Hansen won in the United States Supreme Court, challenging the very idea of what patents are and what they should do.
The unexpected twists and turns of this case – as well as its impact on medicine, and in particular on the lives of women affected by breast and ovarian cancer – are skillfully and lovingly detailed in Defense of the genome. Its author, patent scholar Jorge Contreras, has strongly criticized exaggerated patents and universities which grant exclusive licenses to their intellectual property, especially when they maintain monopolies and entrust the responsible management of their patents to the licensee. (JL Contreras and JS Sherkow Science 355, 698-700; 2017).
This spirit is evident in the book. But readers should note that Contreras is now employed by the University of Utah at Salt Lake City, which historically generated some of the patents Hansen ultimately decided to challenge. (Contreras accepted the position in Utah after starting the book; he argues that its themes go beyond a set of patents to describe the tensions between the law and the pace of technology.)
These patents claimed rights to the sequencing of two genes, BRCA1 and BRCA2. Some variations of these are associated with breast and ovarian cancer. The University of Utah licensed some of the relevant patents exclusively to Myriad Genetics in the 1990s. The Salt Lake City company used its intellectual property to create a monopoly on certain cancer risk tests and threatened its potential competitors of legal action. Back then, tests cost thousands of dollars and, in large part thanks to the vagaries of the U.S. health care system, were not always available to the people who needed them.
The consequences of this lack of access could be devastating. Contreras makes no effort to detail the stories of women who failed to get tested, only to find out later that they had life-threatening cancer that could have been prevented.
But in the 2000s, gene patents were common. In 2005, a team estimated that 20% of the human genome had been patented (K. Jensen and F. Murray Science 310, 239-240; 2005). Although nature’s products are not patentable under US law, some lawyers have argued that the isolation of a gene from its surrounding chromosome fundamentally alters DNA and therefore is an invention. Another, more utilitarian defense argued that genetic patents were necessary to foster innovation in health care.
There’s a reason few thrillers have been based on patent law. Patents are hard to digest, sometimes by design. The more ambiguous they are, the more opportunity a patent holder may have to claim that his intellectual property encompasses someone else’s invention. “The first part of a patent reads like a scientific article written by a lawyer, and the last part reads like a legal document written by a scientist,” Contreras writes. “Either way, you get the worst of both worlds.”
Fortunately, Contreras spares us the details, removing only the nuggets necessary to understand the case. It explains the scientific and legal arguments clearly and succinctly. (He does a better job than some of the lawyers and judges involved, who traded painful analogies throughout the four-year process: Genes have been likened in various ways to chocolate chip cookies, baseball bats. and kidneys.)
For me, the most interesting parts of the book were its tangents. Myriad’s story highlights the convoluted incentives in the genetic testing industry that sometimes work against the best interests of patients. I was keen to learn more about how the Supreme Court ruling – as well as other recent court decisions on what can and cannot be patented – affected the industry. The book also lacks any international context for gene patents, which are alive and well in Europe. A 2017 survey of European genetic testing laboratories revealed that 14% of nonprofit respondents had refrained from offering genetic testing due to patent issues (J. Liddicoat et al. EUR. J. Hum. Broom. 27, 997–1007; 2019).
But Contreras succeeds in his main mission: to detail the narrative story of a historic patent case. The personal stories of the key players are rich in detail. We meet Tania Simoncelli, who, as an ACLU intern with a passion for science and social justice issues, first brought gene patents to Hansen’s attention. And we meet Herman Yue, who at the time the case was brought was an intern for a federal district judge, and who had just completed a doctorate in molecular biology. Yue played a central role in crafting a surprise court ruling in favor of the ACLU.
Readers are also treated within the history of the schism in the US government, with some agencies, notably the Patent Office, in favor of patents on genes, and the National Institutes of Health, among others, against them. It was up to Acting Solicitor General Neal Katyal to walk a tightrope between the arguing parties, ultimately developing a federal government position: namely, entire gene sequences as they are found in genomes should not be patentable, but the assembled regions encoding the proteins of a gene – minus the intermediate pieces of non-coding DNA often scattered throughout – should. Compromise does not completely satisfy anyone.
By 2013, when the Supreme Court rendered its unanimous decision in favor of the ACLU, gene patents and Myriad-like tests on single genes were already out of fashion. Medical diagnostics have shifted to multigene testing, and now, more and more, the focus is on whole genome sequencing. But this story is a guide to the forces shaping a growing industry – and the thwarted influence of patents.
The author declares no competing interests.