Delivering a unanimous decision on Thursday, June 13, all nine judges of the U.S. Supreme Court ruled resoundingly that naturally occurring DNA sequences, including component parts of that genetic material, cannot be patented.
The high court’s decision in “Association For Molecular Pathology v. Myriad Genetics,” which overturns three decades of intellectual property policy on gene patenting practiced by the U.S. Patent and Trademark Office, was in play long before actress and celebrity Angelina Jolie’s public revelation last month that she underwent a prophylactic double-mastectomy even though she has no breast cancer thrust the issue into the public spotlight. Generic testing had indicated that Ms. Jolie carries a defective gene, BRCA1, which doctors told her increased her estimated risk of developing breast cancer to 87%, and also increased her risk factor for ovarian cancer. The average American woman has a 12- to 13-percent risk of developing breast cancer, but for women with certain genetic mutations, the risk can range between 50 and 80 percent for breast cancer and between 20 and 50 percent for ovarian cancer.
The ensuing publicity Ms. Jolie’s example generated resulted in much greater numbers of women at least considering gene testing for BRCA1 or the related BRCA2 anomaly, which about one in 400 women reportedly carry, many discovering to their shock that in the U.S., to be genetically tested for BRCA1 or BRCA2 would cost in the range of $3,340, plus an additional $700 if a related genomic-rearrangement test is included in the analysis. And while in instances where there was a clear family history of breast or ovarian cancer, health insurers would most likely pay for the procedure, where no such risk had been identified, the individual would be expected to foot the bill. One reason for the hefty price of the testing was that a Salt Lake City-based testing firm Myriad Genetics (MYGN) held a patent on the test for BRCA1 and BRCA2 mutant genes that Ms. Jolie had undergone.
A report by USA Today’s Richard Wolf published in The Detroit Free Press noted that Myriad Genetics performs about 250,000 BRCA1 and BRCA2 gene tests annually, with more than 1 million women having been tested by the firm.
Reportedly about one-quarter of the roughly 22,000 human genes packed into 23 pairs of chromosomes have been patented by corporations and universities since 1984, with the U.S. Patent and Trademark Office granting more than 40,000 patents tied to genetic material — a state of affairs lamented by many, including potential testing subjects, consumer protection advocates, the American Civil Liberties Union (ACLU), and of course potential competitors to gene patent holders like Myriad Genetics heretofore legally barred from offering gene sequence testing for patented genes. The ACLU contended that: “A gene patent holder has the right to prevent anyone from studying, testing or even looking at a gene. As a result, scientific research and genetic testing has been delayed, limited or even shut down due to concerns about gene patents.” Also, access to gene testing was inhibited, since the only way an individual can discover if they have a specific mutation in their DNA is to be tested by one specific company if it holds the patent on that gene.
The ACLU in cooperation with the Public Patent Foundation (PUBPAT) filed a lawsuit in 2009 on behalf of researchers, genetic counselors, patients, breast cancer and women’s health groups, and medical professional associations representing 150,000 geneticists, pathologists, and laboratory professionals challenging corporate ownership of human genes, arguing that corporations should not be able to patent human genes for profit while stifling scientific research into those genes, and charging that patents on the BRCA1 and BRCA2 genes are unconstitutional and invalid.
On November 30, 2012, the Supreme Court agreed to hear arguments on the patentability of human genes in Association For Molecular Pathology v. Myriad Genetics, with the ACLU arguing its case before the high court on April 15, 2013, contending that human genes should not be patentable because they are classic products of nature, that the gene patents violate the U.S. Constitution’s First Amendment and moreover that gene patenting inhibits diagnostic testing and research that could lead to cures as well as limiting women’s medical care options.
Myriad Genetics counter-argued that “Because of the incentives provided by patents, companies invest millions of dollars in clinical studies that are essential for obtaining insurance coverage. For Myriad tests, approximately 95% of all appropriate patients have access to breast cancer susceptibility testing through private insurance, Medicare, Medicaid or Myriad’s Financial Assistance Program. Under our Financial Assistance Program, we test low-income, uninsured patients at no charge and have provided free testing to over 5,000 patients just in the past 3 years.” Myriad implied that should the high court rule in the ACLU/PUBPAT’s favor, it would set a precedent that could dismantle the profitability of the human gene patenting industry.
[adrotate banner=”9″]The Supreme Court justices evidently found Myriad’s arguments unconvincing, and sided unequivocally with the ACLU/PUBPAT plaintiffs on Thursday, reaffirming a 2010 New York federal district court ruling that had sided with the patent’s challengers, and invalidated of all of the challenged patents. Justice Clarence Thomas writing in the decision for a unanimous court that “Myriad did not create anything. To be sure, it found an important and useful gene, but separating that gene from its surrounding genetic material is not an act of invention….Before Myriad’s discovery of the BRCA1 and BRCA2 genes, scientists knew that heredity played a role in establishing a woman’s risk of developing breast and ovarian cancer, but they did not know which genes were associated with those cancers….We merely hold that genes and the information they encode are not patent eligible under §101 simply because they have been isolated from the surrounding genetic material.
Justice Thomas also notes that U.S. patent legislation “permits patents to be issued to ‘[w]however invents or discovers any new and useful…composition of matter,’ but ‘laws of nature, natural phenomena, and abstract ideas’ ‘are basic tools of scientific and technological work’ that lie beyond the domain of patent protection”
“Today, the court struck down a major barrier to patient care and medical innovation,” commented Sandra Park, senior staff attorney with the ACLU Women’s Rights Project in a release. “Myriad did not invent the BRCA genes and should not control them. Because of this ruling, patients will have greater access to genetic testing and scientists can engage in research on these genes without fear of being sued.”
The court found that the patents on human genes are invalid, which represents a major shift in patent law and overturns current Patent Office policy. “The court rightfully found that patents cannot be awarded for something so fundamental to nature as DNA,” observes Daniel B. Ravicher, executive director of PUBPAT and co-counsel in the lawsuit.
However, synthetic DNA, also known as complementary DNA, or cDNA, is still patentable. Thus, the court’s ruling lifted the patent obstacle to offering genetic diagnostic testing. In a release, Myriad Genetics affirms that the Supreme Court of the United States upheld its patent claims on cDNA, while ruling that five of Myriad’s claims covering isolated DNA were not patent eligible, and that following Thursday’s decision, Myriad still has more than 500 valid and enforceable claims in 24 different patents conferring patent protection for its BRACAnalysis test. More Importantly, Myriad says, the Court noted that many of the firm’s unchallenged claims are method claims applying knowledge about the BRCA 1 and BRCA 2 genes, and while these method claims were not at issue in this case, the Court highlighted Federal Circuit Judge Bryson’s opinion that, “[a]s the first party with knowledge of the [BRCA1 and BRCA2] sequences, Myriad was in an excellent position to claim applications to that knowledge.”
Indeed, Myriad’s stock price climbed by over 10 percent on the news of the high court ruling, investors apparently encouraged by the continued patentability of cDNA.
“We believe the Court appropriately upheld our claims on cDNA, and underscored the patent eligibility of our method claims, ensuring strong intellectual property protection for our BRACAnalysis test moving forward,” comments Peter D. Meldrum, Myriad president and CEO. “More than 250,000 patients rely upon our BRACAnalysis test annually, and we remain focused on saving and improving peoples’ lives and lowering overall healthcare costs. We are committed to advancing scientific knowledge even further, and Myriad will continue to encourage and support academic research studies conducted on the BRCA genes,” continues Mr. Meldrum. “While we are confident that Myriad offers the highest quality genetic tests in the world, we also support patients’ rights to seek second opinion tests from any of the many laboratories conducting BRCA testing for the purpose of confirming the Myriad test result.”
However, the ACLU cites Lisbeth Ceriani, a breast cancer survivor and plaintiff in the case, who was faced with having to pay over $4,000 for Myriad’s testing to determine if she carried a BRCA1 or BRCA2 genetic mutation because Myriad had refused to enter into a contract with her insurance company. She was forced to wait 18 months before she was able to obtain the test through a grant, at which point she learned that she did indeed carry a mutation. “I’m relieved that no other women will have to go through what I went through,” Ms. Ceriani comments. “I’m so glad that the Supreme Court agrees that women deserve full access to vital information from their own bodies.”
Richard Wolf notes that the Supreme Court decision will allow other scientists and laboratories to provide genetic diagnostic testing, now that the patent on the BRCA1 and BRCA2 genes themselves has been lifted, which should in turn lead to lower costs and wider access.
For example, Houston-based Gene By Gene, Ltd., which currently processes BRAC1 and BRAC2 testing, as well as testing for several other genes that can diagnose different disease conditions, for patients in Israel, says it can process the same tests for less than a third of the cost of what Myriad Genetics has been charging, which should enable concomitant significant reductions in health insurance costs.
However, the Supreme Court decision, although it is likely to affect, and potentially void, thousands of patents on “isolated” genetic material awarded over the past three decades, falls well short of declaring open season for genetic testing. IPS News’s Carey L. Biron reports that the high court did leave open possibility of patenting synthetic or “complementary” DNA — ie: artificial copies of DNA that are either separated or constructed in a lab and allowed to evolve on their own.
In the Supreme Court decision, Justice Thomas notes that “A naturally occurring DNA segment is a product of nature and not patent eligible merely because it has been isolated, but cDNA is patent eligible because it is not naturally occurring,” and that: “The rule against patents on naturally occurring things has limits, however. Patent protection strikes a delicate balance between creating “incentives that lead to creation, invention, and discovery” and “imped[ing] the flow of information that might permit, indeed spur, invention… we hold that a naturally occurring DNA segment is a product of nature and not patent eligible merely because it has been isolated, but that cDNA is patent eligible because it is not naturally occurring.”
He observes some in the biotech industry have argued that stringent patent protection is needed in order for companies to feel comfortable spending the significant amounts capital required to fund research and development, but that others maintain that such patenting actually quashes innovation by limiting competition. Obviously this debate is far from over yet, and it is projected that legal proceedings will now be required to determine the validity of many of the 40,000 gene patent on a case-by-case basis.
However, the Supreme Court decision does bring the U.S. more into line with the rest of the world on these issues, particularly with Europe. Carey Biron cites Jaydee Hanson, a policy analyst at the Washington advocacy group Centre for Food Safety, telling IPS News that “[The Supreme Court’s decision] makes clear that the U.S. Patent Office has not understood what the Constitution says as relating to the patenting of naturally occurring things. This is very important, and we will be working hard to disallow Congress from trying to pass any new law suggesting that you can indeed patent DNA,” while “European patent law has set morality as a standard, so some countries have made restrictions on what is patentable gene sequence because it might be immoral to exclude people from being able to engage in certain testing or research. In effect, the court has come down on the side of both the U.S. Constitution and moral obviousness.”
From a common sense deduction perspective, it seems inarguable that market exclusivity inevitably leads to higher costs, and that the common good is better-served by open access to gene testing. In his New York Times op-ed entitled “The Outrageous Cost of a Gene Test,” UCSC’s Dr. David Agus says molecular scientists like him can sequence all of an individual’s genes — at least 20,000 of them — for about $1,000 or about five cents per gene, and that one gene testing company, 23andMe, charges customers $99 to see if they have gene variants that put them at greater risk for 120 diseases, or they carry a known heritable mutation in an additional 50, including cystic fibrosis, sickle cell disease and Tay-Sachs disease. “We’re paying this lofty price in large part because Myriad owns broad patents on these two BRCA genes, which it acquired in 1997 and 1998, respectively — and refuses to license the test to any other American company,” Dr. Agus notes.
No more. An immediate effect of Thursday’s Supreme Court ruling, at least insofar as testing for the BRAC1 and BRAC2 genes specifically linked to breast, ovarian and other cancers is concerned, is that labs like Houston’s Gene by Gene will be able to offer the service for about one quarter of what Myriad Genetics has been charging. Gene by Gene’s subsidiary testing company DNATraits announced Thursday afternoon that it would offer the test for $995.
“We’re pleased to make this important testing more widely available and accessible in the United States,” said Gene By Gene President Bennett Greenspan. “Our highly automated CLIA-registered lab and efficient processes enable us to make genetic and genomic testing more affordable and accessible to more individuals, in the U.S. and worldwide. And that’s our company’s mission, in a nutshell.”
“We commend the Supreme Court for opening the door to greater technological innovation and access to genetic tools that promise to save and improve the quality of human lives in the United States,” Mr. Greenspan continued. “It’s critical that as an industry we are able to continue to engage in healthy competition to drive down the costs of these tests – because as more individuals have access to and undergo them, the more information we’ll have about many serious diseases that eventually may lead to cures.”
DNATraits has processed testing for the BRCA1 and BRCA2 genes for individuals living outside the U.S. since 2012. Those genes are processed at the company’s Genomic Research Center in Houston, a CLIA-registered lab that has processed more than 5 million discrete DNA tests from more than 700,000 individuals and organizations globally using traditional Sanger DNA sequencing, which the company says is considered the gold standard for DNA analysis. In addition to the BRCA gene tests, DNATraits offers a pre-natal array that covers 111 population specific diseases, as well as other not population-specific diseases, like Duchene Muscular Dystrophy.