The American Interest | August 9, 2011
By Eric Hoffman

“The information contained in our shared [genome] is so fundamental, and requires so much further research to understand its utility, that patenting it at the earliest stage is like putting up a whole lot of unnecessary toll booths on the road to discovery”, said National Institutes of Health Director and former head of the Human Genome Project Francis Collins in his 2010 book The Language of Life: DNA and the Revolution in Personalized Medicine.

Unfortunately such toll booths were just given the go-ahead by a Federal appeals court. In a 2-1 decision issued on July 29, the Court of Appeals for the Federal Circuit overruled a lower court’s decision in Association for Molecular Pathology et al. v. U.S. Patent and Trademark Office et al. holding that private companies and researchers could in fact patent genes and DNA sequences. If not overturned by the Supreme Court, this decision could have harmful impacts on patient health and could limit future genomic and scientific discoveries.

To get a better sense of what this case means and where it is going, we must take a step back and look at the history of gene patenting and the case against it. These patents harm patients and researchers, and they go against years of legal precedent holding that one cannot patent a “fact of nature.”

A Brief History of Gene Patents

Most people are shocked to learn that more than 20 percent of the human genome is patented.¹ Corporations and researchers own patents on genes that correlate diseases such as breast cancer, Alzheimer’s and Huntington’s disease, among others. The U.S. Patent and Trademark Office started granting patents on human genes in the 1980s and has since granted more than 4,300 of them.

In May 2009, the American Civil Liberties Union filed a lawsuit against Myriad Genetics, which owned genes (BRCA1 and BRCA2) that correlate with increased risk for breast cancer and ovarian cancer. The ACLU named the Patent Office as a defendant, too, since it had granted these patents. The lawsuit was filed on behalf of researchers, genetic counselors, women patients, cancer survivors, breast cancer and women's health groups, and scientific associations representing 150,000 geneticists, pathologists and laboratory professionals.

The plaintiffs claimed that genes are “facts of nature” and are therefore not patentable. Additionally, they argued that Myriad’s patents limited patients’ access to potentially life-saving genetic diagnostic tests and prevented researchers from looking at those genes to help their patients or to develop more effective and affordable tests.

The defendants argued that patents are necessary to protect the time and money invested in identifying disease-gene correlations. Myriad Genetics also claimed that its patents are on “isolated” genes and DNA sequences, and this act of isolating a gene from the genome is an inventive step and worthy of a patent. These patents, the industry claims, are necessary to bring expensive tests and products to market and improve patient health.

In March 2010, a Federal judge agreed with the ACLU and decided that DNA sequences are “facts of nature” and are therefore no more patentable than “isolated” gold from a mine or isolating a natural element. Myriad Genetics quickly appealed the decision.

Do Gene Patents Harm Patients and Innovation?

Contrary to industry claims that gene patents are necessary to bring tests and products to market, such patents are actually detrimental to patient health and researcher access to genetic information. Gene patent holders often use their exclusive control to charge excessive fees for diagnostic testing and to prevent other researchers from utilizing specific genes for research.²

Myriad Genetics, for example, charges up to $4,000 for its breast cancer diagnostic test, a price too steep for many patients and health insurance providers. If allowed, labs could run the same genetic test for only a few hundred dollars.³ Myriad also sent cease-and-desist letters to researchers who were looking at the BRCA1/2 genes in their labs, providing diagnostic tests to patients and even providing patients second-opinion tests to confirm the test provided by Myriad.

Gene patents have a detrimental impact on health care and research.⁴ Gene patents can prevent more accurate, affordable and complex diagnostic tests from being developed.⁵ A survey of genetics labs found that 53 percent stopped doing research due to concerns about patented genes,⁶ and there has been a significant decline in published material on patented genetic information.⁷ The future of personalized medicine may be crushed by the weight of gene patent thickets if a company must ask permission from hundreds of patent holders to scan a single patient’s genome.

Gene patents also drive research towards gene-to-disease correlations and away from factors that actually cause disease, such as exposure to toxic chemicals. Most genetic tests offer only an estimate of the chances for developing a particular disease and fail to account for the influence of other genes and environmental factors that cause disease.⁸ The predictive power of the test for BRCA breast cancer mutations is high for persons from families with a history of particular kinds of breast or ovarian cancer, but very low for women without a family history of breast cancer; many women who test positive for a BRCA1 mutation do not get the disease.⁹ Gene patents lock-in our knowledge on these DNA sequences to only their potential correlation to a disease while preventing others from looking at how that gene may interact with other genes or the outside environment.

Are Genes Patentable?

This brings us to the recent verdict, in which the judges were not asked to rule on whether gene patents are harmful but whether they are patentable. In this respect, the appeals court largely agreed with Myriad Genetics when it determined that “isolated DNA” is patentable since it is not found in nature and is the result of a human process. The appellate court did agree with the lower court on one point when it said the act of comparing two DNA sequences (comparing a normal gene with a mutated gene sequence to identify said mutation) was not patentable since it was simply a mental process.

The majority opinion stated that, since isolated DNA is not found in nature, the act of isolating said DNA is an inventive step worthy of a patent. Since the bonds between the specific gene and the rest of the DNA had been broken, they argued, the isolated DNA is no longer a “fact of nature” but a man-made invention.

This view fails to take into account the unique nature of DNA. As Judge Sweet said in the lower court’s decision originally invalidating the BRCA1/2 genes, the “essential characteristic” of DNA is its nucleotide sequence, which is “defined by nature and central to both its biological function within the cell and its utility as a research tool in the lab.”¹⁰ In other words, DNA sequences have naturally evolved over millennia and are important not simply for their chemical construction but for the information they code for. If the genetic code and its information were different than that found in nature, Myriad’s and others’ genetic diagnostic tests would be worthless. That is why Judge Sweet called attempts to define patented genes as novel as merely a “lawyer’s trick.”

The Supreme Court has repeatedly held that facts of nature are not patentable. In the 1980 landmark case of Diamond v. Chakrabarty, the Court explained how patents can be granted to:

Anything under the sun that is made by man . . . . [T]he laws of nature, physical phenomena, and abstract ideas have been held not patentable . . . a new mineral discovered in the earth or a new plant found in the wild is not patentable subject matter. Likewise, Einstein could not patent his celebrated law that E=mc2; nor could Newton have patented the law of gravity. Such discoveries are manifestations of nature, free to all men and reserved exclusively to none.¹¹ [emphasis added]

This case points out an interesting problem: We are asking our judges, who are experts in legal jurisprudence, no doubt, to make decisions about basic facts of biology and genetics. The two judges who supported gene patents, Judge Lourie and Judge Moore, studied chemistry and electrical engineering, respectively, before their legal careers.¹² While they must have consulted experts on the issue, we should not delegate the future of genetic research and access to our common genetic heritage to engineers and chemists. Congress, which has constitutional authority over what is patentable, should pass legislation making it clear that genes are “facts of nature” and are therefore unpatentable. Such a law would tear down the thicket of gene patent “toll booths” that are harming patient health and scientific research.

The Next Battleground

This legal battle is far from over, since the case is expected to be decided by the Supreme Court, and no matter which way the court rules, Congress will likely step in.

As Joseph Stiglitz and John Sulston explained in the Wall Street Journal, “the patenting of human genes is wrong as a matter of science and as a matter of economics.” Lets hope Congress keeps with good science, good economics and good public health policy by declaring, once and for all, that genes and DNA sequences are facts of nature, part of our common genetic heritage, and therefore unpatentable.

²Mildred K. Cho, Preparing for the Millennium: Laboratory Medicine in the 21st Century (American Association for Clinical Chemistry Press, 2d ed., 1998), pp. 47–58.

³Joseph Stiglitz and John Sulston, "The Case Against Gene Patents", Wall Street Journal, October 7, 2010.

⁴See Jon F. Merz, Antigone G. Kriss, Debra G. B. Leonard and Mildred K. Cho, “Diagnostic Testing Fails the Test”, Nature, February 7, 2002; David Blumenthal et al., “University-Industry Research Relationships in Biotechnology”, Science, June 13, 1986; David Blumenthal et al., “Withholding Research Results in Academic Life Sciences”, Journal of the American Medical Association, April 16, 1997; David Blumenthal et al., “Data Withholding in Academic Genetics”, Journal of the American Medical Association, January 23/30, 2002.

⁵Gene Patents and Licensing Practices and their Impact on Patient Access to Genetic Tests, report of the Secretary’s Advisory Committee on Genetics, Health and Society.

⁶Mildred K. Cho, Samantha Illangasekare, Meredith A. Weaver, Deborah G. Leonard and Jon F. Merz. "Effects of Patents and Licenses on the Provision of Clinical Genetic Testing Services", Journal of Molecular Diagnostics (February 2003).

⁷Fiona Murray, Scott Stern, “Do Formal Intellectual Property Rights Hinder the Free Flow of Scientific Knowledge? An Empirical Test of the Anti-Commons Hypothesis,” prepared for the NBER Academic Science and Entrepreneurship Conference (June 2005).

⁸Michael J. Malinowski and Robin J.R. Blatt, "Commercialization of Genetic Testing Services: The FDA, Market Forces, and Biological Tarot Cards", Tulane Law Review, vol. 71, no. 4 (1997).

⁹Wylie Burke, “Genetic Testing”, New England Journal of Medicine, December 5, 2002.

¹⁰Association for Molecular Pathology et al. v. U.S. Patent and Trademark Office et al., 132, U.S. District Court, Southern District of New York, March 29, 2010.

¹¹Diamond v. Chakrabarty, U.S. Supreme Court, June 16, 1980.

¹²Andrew Cohen, "Like a Leaf From a Tree: The Gene Patent Ruling”, The Atlantic Online, August 1, 2011.