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US Supreme Court Hears Arguments For, Against Gene Patents

WASHINGTON (GenomeWeb News) – US Supreme Court justices today heard arguments in favor of and against the patent eligibility of genes isolated from the body, a practice that the US Patent and Trademark Office has enabled for more than three decades.

In the case, Association for Molecular Pathology et al. v. Myriad Genetics, healthcare professionals, researchers, women's health groups, and six patients are challenging patents on isolated BRCA1 and BRCA2 gene sequences held by the molecular diagnostics firm Myriad Genetics. The plaintiffs, represented by the American Civil Liberties Union and the Public Patent Foundation, allege that Myriad's patents are invalid under US law as they are products of nature, which under 35 USC section 101 cannot be patented.

The lawyer for the plaintiffs, ACLU's Chris Hansen, made the case to the justices that Myriad's patents on isolated gene sequences should be invalidated since the company hasn't invented anything, but only "unlocked the secret" the genes naturally contain about their relationship to disease. "What did Myriad invent?" Hansen asked at the start of his arguments. "The answer is 'Nothing.'"

Meanwhile, Gregory Castanias of the law firm Jones Day defended Myriad's patents to the justices asserting that isolated gene sequences are wholly unlike the native DNA, in that in an isolated form, DNA sequences are separated from the surrounding biological material in the body, and as such are patent eligible.

Some of the justices didn't readily buy this argument. "I find it very, very difficult to conceive how you can patent a sequential numbering system by nature, in the same way that I have a problem in thinking that someone could get a patent on the computer binary code merely because they throw a certain number of things on a piece of paper in a certain order," Justice Sonia Sotomayor said in questioning Castanias. "I always thought that to have a patent you had to take something and add to what nature does."

To this, Castanias responded that in isolating BRCA gene sequences, "what Myriad inventors created ... was a new molecule that had never before been known to the world," Castanias said.

He noted that the act of isolating a gene sequence associated with a specific disease required a lot of effort and investment that companies wouldn't make without patent protection. Castanias added that without Myriad taking that first step in separating the snippet of DNA linked with increased risk of hereditary breast and ovarian cancer, the medical field would not know which bit of the BRCA1 and BRCA2 genes inside the body was associated with disease risk.

The plaintiffs first brought the lawsuit against Myriad in 2009 in New York federal district court, where Judge Robert Sweet invalidated seven of Myriad's patents claiming isolated gene sequences, complementary DNA, and diagnostic methods. Reasoning that isolated gene sequences were products of nature, he invalidated those claims, noting that the information of interest in terms of diagnosing disease contained in isolated DNA is exactly the same as the information in native DNA. In that decision, Sweet also invalidated Myriad's patents on diagnostic methods and on complementary DNA that researchers have synthesized to use as probes in diagnostic testing.

Myriad appealed this decision in 2011 and 2012 in the Federal Circuit Court of Appeals, which resulted in a 2-to-1 decision upholding the company's patents on isolated genes and cDNA, and invalidating all but one method patent. Both times, Judge William Bryson partly agreed with the other judges, Alan Lourie and Kimberly Moore, by invalidating Myriad's method patents and upholding cDNA patents, but disagreed that isolated gene sequences were patent eligible.

After the first CAFC hearing, the plaintiffs appealed to the Supreme Court, but at that time the court remanded the case back to the CAFC, asking them to review the case in light of its decision in another case, Mayo v. Prometheus. The Supreme Court in Mayo v. Prometheus emphasized that "an application of a law of nature … to a known structure or process may [deserve] patent protection," but in order to transform a law of nature into something worthy of a patent, the applicant "must do more than simply state the law of nature while adding the words 'apply it.'"

However, after the CAFC last year issued essentially the same decision as it did in 2011, the Supreme Court decided to take up the case in November. A decision in the case is expected in late June.

Variations in BRCA1 and BRCA 2 genes are associated with a heightened risk of hereditary breast and ovarian cancer. Myriad and its research collaborators were the first to patent the relationship between these gene sequences and their relationship to familial breast and ovarian cancer, allowing the company to launch a genetic risk test, called BRACAnalysis, in 1996. However, researchers all over the world were looking for this same link and some, such as breast cancer genetics pioneer Mary-Claire King, had even identified it around the same time as the company.

The outcome of AMP v. Myriad could result in not only invalidating Myriad's patents underlying its flagship BRACAnalysis test, a product that brings in more than 80 percent of the company's molecular diagnostics revenues, but the case stands to broadly impact the biotechnology industry, particularly the advancement of molecularly guided personalized treatments. As such, during the hearing, the justices spent a significant amount of time questioning how invalidating or upholding patents on isolated gene sequences, or even cDNA, could impact innovation.

If cDNA were patentable, "would that give the industry sufficient protection for innovation and research?" Justice Anthony Kennedy asked Castanias. Avoiding directly answering the question, Castanias responded that too much has happened in the life sciences field for him to definitively gauge how invalidating patents on isolated gene sequences, but not cDNA, would impact industry.

However, he put forth that given that healthcare is increasingly moving toward molecular strategies, the law's limit against patenting products of nature presents a problem for inventors. "Medicine, particularly the area of personalized medicine, is trying to get to a point where what we are administering to individual patients … mimics the actions of the body," Castanias said. "Actually, the goal of medicine is to get closer to nature, rather than farther away."

The US government, represented by the Department of Justice, has taken the position that although the act of isolating DNA sequences doesn't make it sufficiently different from native DNA to make it patent-eligible, cDNA is man-made, doesn't exist in nature, and therefore is worthy of patent protection.

During the hearing, DOJ Solicitor General Donald Verrilli made the point that upholding the patents on isolated gene sequences would bar any other researcher or scientist from using that sequence for further study or for developing new products. "That is not true about a patent on cDNA," Verrilli said. "A patent on cDNA leaves the isolated DNA available for other scientists … and others in the medical profession to try to generate new uses."

Some researchers have noted that cDNA is not critical to advanced diagnostic technologies, such as next-generation sequencing. However, others believe that cDNA is critical to recombinant DNA, which researchers create the sequence for by combining genetic material from different sources. Recombinant DNA, industry observers believe, will be critical to the development of future drugs.

In more than three decades, it has been estimated that the USPTO has granted more than 2,500 patents claiming "isolated DNA." Furthermore, although the patent eligibility of isolated gene sequences has never been challenged in US courts, the patent office in 2001 stated in response to public comments to its Utility Examination Guidelines revisions that isolated DNA molecules are not a product of nature. This determination has "been relied on now for 12 years, and [it] confirm[s] a practice that has been in place much longer than that," Castanias said, adding that the USPTO's decision regarding this matter "is entitled to respect."

The other side of this case is how Myriad's patents on isolated BRCA1 and BRCA2 sequences have essentially enabled it to exercise a monopoly over an entire test market. Patients who are plaintiffs in this case claim that Myriad's patents have stopped them from getting independent confirmation of their BRCA test results. Alleging that Myriad's test failed to gauge certain rare BRCA1/2 mutations, other patients have criticized the company for using its patents to restrict other labs from launching better tests.

For example, King and Tom Walsh of the University of Washington launched the BROCA Cancer Risk Panel last year, but they excluded BRCA1 and BRCA2 from the panel of genes that the targeted sequencing test gauges. BROCA tests for mutations in 40 genes associated with a heightened risk of various hereditary cancers, including breast and ovarian, and costs about half of the between $3,000 to $4,000 Myriad charges for gauging mutations in BRCA1 and BRCA2.

"The patents on the genes in this case cover the genes of every man, woman, and child in the US … The government has given Myriad the authority to stop research on every one of our genes," ACLU's Hansen said. "That simply can't be right."

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