Association for Molecular Pathology v. Myriad Genetics, Inc. (2013)

In the 2013 legal case Association for Molecular Pathology v. Myriad Genetics, Inc., hereafter AMP v. Myriad, the United States Supreme Court held in a unanimous decision that naturally occurring gene sequences are not eligible for patents. Researchers at the biotechnology company Myriad Genetics, hereafter Myriad, identified the precise location and sequence of the BRCA1 and BRCA2 genes in 1994 and 1995, respectively. Certain mutations in those genes increase a person’s risk of developing breast and ovarian cancer. In 1998, Myriad was awarded multiple patents for the BRCA1 and BRCA2 genes, including ones related to diagnostic testing. However, in 2009, the Association for Molecular Pathology, a non-profit organization that researches and develops genetic testing, challenged seven of Myriad’s patents in a case that went to the Supreme Court in 2013. Had the Supreme Court upheld Myriad's patents claims, diagnostic screenings of BRCA1 and BRCA2 and further research into those genes would have been restricted to Myriad alone. AMP v. Myriad ensured that potentially life-saving medical advances related to identifying and sequencing genes, such as cancer screening and the detection of genetic diseases, would not be controlled by one company.

1. Background and Context
2. Legal Issues in the Case
3. Oral Arguments at the Supreme Court
4. The Court's Ruling
5. Legacy and Impact

Background and Context

The two genes at the center of AMP v. Myriad were Breast Cancer gene 1, or BRCA1, and Breast Cancer gene 2, or BRCA2, which, when mutated, increase a person’s risk of developing breast and ovarian cancer. According to the US National Cancer Institute, the average woman in the US possesses about a thirteen percent chance of developing breast cancer over the course of her life. However, particular mutations in the BRCA1 gene increase a person's lifetime cancer risk to between fifty-five and seventy-two percent. For certain mutations in BRCA2, the risk of developing breast cancer is between forty and sixty-nine percent. Additionally, the typical US woman has about a one percent chance of developing ovarian cancer. However, mutations in the BRCA1 and BRCA2 genes increase risk significantly to between eleven and forty-four percent. Researchers screen for mutations in the BRCA1 and BRCA2 genes to identify if there is an increased risk of developing breast and ovarian cancer and to decide upon prevention or treatment methods. Had the court upheld Myriad’s patents on those genes, they would have been the only company allowed to do such screening.

Myriad’s successful identification of the location and sequence of the BRCA1 and BRCA2 genes built on a body of work that came before. Beginning in the 1970s, researcher Mary-Claire King began studying the genetic basis of breast cancer that runs in families. In 1990, she and a team of researchers at the University of California-Berkeley announced that they had found a gene on chromosome 17 that was linked to such inherited breast cancer. They dubbed that gene BRCA1. In 1994, a team of researchers led jointly by David Goldgar at the University of Utah in Salt Lake City, Utah, and Michael Stratton at the Institute for Cancer Research in the United Kingdom, found a second breast cancer gene, on chromosome 13. They dubbed it BRCA2. Following those discoveries, the race was on to determine the precise location and sequence of each gene.

Geneticist Mark Skolnick, then at the University of Utah, along with several other colleagues, founded Myriad Genetics in 1991. Myriad’s stated aim was to sequence the breast cancer genes and develop diagnostic tests based on them to determine a person’s cancer risk. In the mid-1990s, Myriad’s research team became the first to successfully find, isolate, and sequence both BRCA genes. On 7 October 1994, Myriad’s research team published the sequence of BRCA1 in the journal Science, and shortly thereafter applied for a patent on the gene. A patent is a privilege given to an individual by the US federal government to the right to their invention, where all other individuals, during the patent period, are prohibited from making, using, and selling the inventor’s novel product without permission. Then, in December of 1995, Myriad announced that it had sequenced the BRCA2 gene, filed a patent for it, and deposited the sequence into GenBank, a public database of DNA sequences. In 1997 and 1998, the United States Patent and Trademark Office, or USPTO, granted Myriad several patents related to the BRCA1 and BRCA2 genes. 

While Myriad’s sequencing of the BRCA1 and BRCA2 genes paved the way for improved diagnostic tests to determine a person’s risk of breast and ovarian cancer, many medical professionals, researchers, cancer patients, and other stakeholders took issue with Myriad’s patents. By granting them patents, the USPTO gave Myriad sole ownership of the BRCA1 and BRCA2 genes, limiting breast and ovarian cancer research, testing, and screening to one medical company, Myriad. One of the parties to express concern about Myriad’s patents was the Association for Molecular Pathology. In 2009, the Association for Molecular Pathology and other stakeholders at universities sued Myriad, taking them to the Southern District Court of New York.

Legal Issues in the Case

Legal arguments in AMP v. Myriad involved Article One, Section Eight, Clause Eight of the US Constitution, which aims to promote the progression of science and the arts by allowing people to patent their discoveries, and Section 101 of the US Patent Act, titled Inventions Patentable. Section 101 states that an individual who discovers or invents a novel and useful process, machine, or composition of matter has the potential to obtain a patent if the conditions of the Patent Act are met. One of the conditions states that patents cannot be granted for laws of nature, natural phenomena, or abstract ideas. Thus, much of AMP v. Myriad depended on deciding whether isolated genes and complementary DNA should be considered unpatentable objects of nature or human inventions. Complementary DNA, or cDNA, is synthetically made in a laboratory and contains only the coding portions of a gene.

Myriad filed two types of patent claims, a composition claim and a method claim. Patent claims are definitions of the invention that state what the patent covers. For example, a patent claim can describe a specific method for extracting gold, which has the potential to qualify for a patent. A composition claim corresponds to a composition of matter and is granted depending on if the court deems the invention to be novel and synthetically made. For example, Myriad argued that synthesizing new molecules like cDNAs, which are different enough from naturally occurring DNA, should be patent eligible. By filing a composition claim, Myriad was claiming ownership of the cDNAs of the BRCA genes, which would give them sole right to those molecules for the duration of the patent. Method claims involve the right to the sole use of the process of obtaining a product and can be patentable even if the tools used in the method already exist. Thus, although the method of isolating genes already existed, Myriad’s method claims to the genes allowed Myriad to be the only company able to isolate the BRCA1 and BRCA2 genes using their method. Myriad’s patents gave the company the sole right to isolate the BRCA1 and BRCA2 genes, and the sole right to synthetically make BCRA cDNA. Myriad viewed both the process of isolation of the genes as well as synthetically creating cDNA for BRCA1 and BRCA2 genes as their rights because of the patents awarded to them.

In 1998, Myriad sent letters to other laboratories that were at the time providing genetic testing for the BRCA1 and BRCA2 genes and asserted that other labs’ usage of BRCA1 and BRCA2 testing infringed on their patents. In response, many companies stopped testing. In 2009, Myriad received a notice about violating Section 101 of the Patent Act and Article One, Section Eight, Clause Eight of the US Constitution since genes are products of nature. Myriad attempted to dismiss the complaint based on lack of standing. Standing is a determination of whether a litigant has enough cause and justification to bring their case to court and fight for their position. The Southern District Court of New York rejected Myriad’s request for dismissal and found that the parties against the patents had standing. Parties involved took Myriad to the US District Court for the Southern State of New York in 2010 to challenge Myriad’s patents on the BRCA1 and BRCA2 genes, their mutations, as well as cDNA.

The US District Court for the Southern District of New York decided that Myriad’s patents did not pass the markedly different test based on a previous case, Diamond v. Chakrabarty (1980), hereafter Diamond. Diamond focused on a human-modified living microorganism and stated that scientists can patent synthetically modified microorganisms if the created object is different enough from the naturally occurring object. Diamond relates to AMP v. Myriad since both cases involve the creation of synthetic material. In Diamond that synthetic creation referred to the microorganism, in AMP v. Myriad, to the cDNA. The district court found that DNA isolated by Myriad is not markedly different compared to DNA in its natural form, so it cannot be patented. The court also reviewed Myriad’s claim on comparing and analyzing DNA sequences and found that those were not eligible for a patent. Myriad appealed the case, moving it to a Federal Circuit.

In 2011, the US Court of Appeals for the Federal Circuit reversed some decisions of the district court while affirming that Myriad’s method claims in question were not patentable. In a reversal from the district court, the federal circuit court found that isolated DNA is patent-eligible since the judges claimed they do not exist in that form naturally. In a second reversal, the court also found that Myriad’s method claims for screening potential cancer therapeutics through looking at changes in cells was patent-eligible. The Court of Appeals affirmed the lower court’s decision that Myriad’s method claims for comparing and analyzing DNA sequences are patent-ineligible since there are no transformative steps and the steps to compare the sequences involve abstract mental steps that cannot be patented. The Association for Molecular Pathology appealed the decision.

Prior to AMP v. Myriad, the Supreme Court decided Mayo Collaborative Services v. Prometheus Laboratories, Inc. (2012), hereafter Mayo, which rejected patent claims for diagnostic tests for naturally occurring phenomena such as Crohn’s disease. Justices in that case unanimously decided that testing for gastrointestinal diseases such as Crohn’s disease were patent-ineligible since the instructions for the testing steps were simply applications of the laws of nature. Mayo also emphasized the need to limit patents concerning the laws of nature since those had the potential to inhibit further discovery. As a result of that recent case, the Supreme Court sent AMP v. Myriad back to be heard by another circuit court panel before they accepted the case in their court.

In 2012, the Court of Appeals for the Federal Circuit reviewed the case, which they reversed and decided unanimously that cDNA and isolated DNA were patentable. The court consisted of three judges, one with a chemistry background and another with an electrical engineering background. The Federal Circuit court decided that Myriad’s composition claims for isolated DNA are patent-eligible since they are not natural components of nature. The former chemist used a test to compare the uniqueness of two objects, developed during the Diamond case, to make their decision. They concluded that since the chemical bonds in natural DNA are broken during DNA isolation, isolated DNA is different and therefore patentable. The former electrical engineer also agreed with the former chemist that isolated DNA is patentable. She stated that isolated DNA is patentable because it has new and distinct uses that naturally occurring DNA does not allow. The new and distinct uses that isolated DNA brings aligns with subsection 101 of the Patent Act, which requires inventions to be novel and useful, made Myriad’s patents on BRCA1 and BRCA2 valid, she argued.

With regard to Myriad’s method claims, the Federal Circuit court reversed and affirmed the district court’s decision in part. They reversed the previous decision and stated that Myriad has the rights to their patent on screening possible cancer treatments since those screening measures required a comparison of the changes occurring in cells of a BRCA1 cancer-causing gene in the presence of a therapeutic, to BRCA1 cells without that therapeutic. By creating the BRCA1 and therapeutic sample and creating steps to compare the two types of cells, researchers create something novel, making them patentable, the court decided. Patent laws state that if an inventor transforms material into something novel, that inventor may have the right to a patent. While the circuit court disagreed with many of the decisions made by the district court, they affirmed that Myriad’s method claim comparing DNA sequences for screening purposes is not patentable. Since there are no transformative steps, and only abstract ideas to the comparison process, the circuit court agreed that the specific method claim by Myriad is not patentable. Unsatisfied with the results, the Association for Molecular Pathology appealed to the US Supreme Court, which accepted the case on 30 November 2012.

Oral Arguments at the Supreme Court

On 15 April 2013, representatives for the Association for Molecular Pathology and Myriad argued before the US Supreme Court. Attorney Christopher Hansen represented the Association for Molecular Pathology and presented his case first. Hansen began his argument by posing the question of what exactly Myriad invented through isolating and sequencing the  BRCA1 and BRCA2 genes. He answered his own question by claiming that nothing was actually invented. The genes themselves, their sequences, and what happens when they become mutated are all products of nature. Justice Ruth Bader Ginsburg asked Hansen why other discoveries, such as aspirin or vaccines are patentable but not Myriad’s. Hansen responded by saying that mere extraction of a natural product does not make it patentable. He used the example of gold, which is not patentable, despite being extracted. Instead, extracted products of nature require further manipulation in order to sufficiently meet the threshold of patentability. Further questioning by the justices focused on the method and whether Myriad’s claims were patentable. Hansen explained that the method was not novel and that laboratories all over the US use the method Myriad used to find, isolate, and sequence genes. Several justices took issue with the idea that, if they determined that the gene was not patentable, then companies would have no incentive to search for and identify genes of interest. Hansen also pointed to the many research institutions that had searched for BRCA1 and BRCA2 and had promised not to patent them, as well as the fact that much of Myriad’s funding came from taxpayers, to support the idea that patents are not the only incentive for research. The justices expressed concern that mere recognition for discoveries did not seem sufficient to spur new innovation. Hansen concluded his initial argument by discussing cDNA and whether it can be patented. He argued that scientists creating cDNA in the lab are merely copying what cells naturally do. That is, they are not doing anything markedly different from what occurs naturally in the body during DNA transcription, which is the process by which an RNA copy is made from the DNA sequence and then spliced into a final formal to be translated into protein.

Donald B. Verrilli, Jr, then Solicitor General for the US Department of Justice, also provided a statement for the court during oral arguments as an amicus curiae, or friend of the court. Verrilli stated that isolated DNA should not be patentable, but cDNA should be, due to it being an artificial creation. He also stated that the US government, which he represented, was not making an argument about the specific BRCA patent claims made in that case, but rather wanted to take a position on the patentability of cDNA as a whole.

Attorney Gregory Castanias then argued for Myriad Genetics. Castanias challenged the argument that Myriad did not do anything novel by isolating the BRCA gene sequences. He stated that by isolating the gene, Myriad scientists created a molecule completely unknown to nature. He explained that the sequence of nucleotides that comprise BRCA1 and BRCA2 cannot be used by the body in order to detect breast or ovarian cancers, but the isolated genes outside the body can be used for that purpose. Nucleotides are the components that make up DNA, and a unique sequence of nucleotides corresponds to the BRCA1 and BRCA2 genes. Justice Anthony Kennedy challenged that idea by stating that the isolated DNA cannot actually detect cancer by itself and that it instead requires additional tools and manipulation, transforming the molecule into something unique. Castanias also argued that over thirty years’ worth of patents relied on the USPTO’s view of DNA patenting, and siding against Myriad would disrupt that.

Finally, Hansen returned to the stand with his remaining argument time. Before Hansen said anything, Justice Sonia Sotomayor asked if there was any utility in the court striking down the isolated DNA patent but upholding the cDNA patent. Sotomayor pressed Hansen to say whether there was any way for the patent claims by Myriad to be acceptable. He stated that the only way for that to happen would be if the scientists determined the genetic sequence, rather than nature. He emphasized that a patent should be issued if there is a new use for an item, rather than simply finding that item.

The Court’s Ruling

On 13 June 2013, the Supreme Court unanimously decided that isolated DNA is not patentable while cDNA is patentable since it is not naturally occurring. That means that Myriad could continue to enforce their patent on cDNA, which they could use to create and license specific diagnostic tests. The opinion of the Court, written by Justice Clarence Thomas, is comprised of Parts, I, II, and III, with parts I and II having three sections, A, B, and C.

Part I-A describes the complex molecular biology foundation of the case. The section provides brief descriptions of DNA and mRNA and the processes involved in making proteins. That section includes the process of synthetically making cDNA in the laboratory from unedited messenger RNA, or mRNA, and the alterations in the genetic sequence that cause mutations. Part B of that same section gives background on Myriad’s patents for their discovery of the location and sequence of BRCA1 and BRCA2, as well as the significance of the BRCA genes with respect to cancer. That section also explains how Myriad’s discovery of the location of BRCA1 and BRCA2 genes revealed their sequences and helped the company develop diagnostic tests for cancer screening. Knowledge of those sequences is necessary for medical testing to determine if an individual has a mutation in their BRCA1 or BRCA2 genes, and thus has a higher risk of developing breast and ovarian cancers. Part I-B also mentions some of Myriad’s composition claims at issue from many of their patents. Part I-C describes the history behind the case, the case at the district and federal circuit courts, the judges’ conclusions, and the rights that Myriad’s patents, if eligible, give them.

Part II-A outlines section 101 of the Patent Act that states people who invent a new composition of matter or improve upon an existing composition are eligible for a patent. Thomas described previous cases by the Court including Mayo and Diamond v. Chakrabarty. He stated that the Court has historically found that laws of nature and abstract ideas are not patentable since they can inhibit innovation. He concludes that section by stating that the Court approached AMP v. Myriad with the intent of finding a balance between creating incentives for developing new inventions and not unnecessarily impeding the flow of information that might spur further invention.

Part II-B begins by stating there is no dispute over the fact that Myriad did not create or alter the DNA sequences of BRCA1 and BRCA2. Rather, Myriad’s contribution was to uncover the precise location and sequence of the BRCA1 and BRCA2 genes. Thomas compares the case to Diamond, stating that the primary difference between patentability in the two cases is that of novel creation. Whereas in Diamond the researchers had created something that hadn’t existed before, in Myriad’s case, they had only discovered something that exists in nature. No matter how significant or groundbreaking a discovery is, the discovery itself is not patent eligible, according to Thomas. The extensive search made by Myriad also does not confer patentability. Although Myriad sifted through millions of nucleotides to uncover the specific regions of interest, the challenge faced by researchers who make a discovery does not satisfy patent eligibility. Thomas then tackles the claim by Myriad that the chemical composition of the BRCA molecules is novel since, once it is severed from the whole genome, it is a new chemical compound that does not exist in nature. Thomas explains that severing the molecule does not constitute a change in composition sufficient to grant a patent. He elaborates by stating that if the Court granted Myriad’s patent on that basis, then other researchers could simply add a single nucleotide pair to the BRCA genes and create a different patentable BRCA gene from Myriad’s. Thomas states that what Myriad aims to do is control the use of the information in the BRCA genes, not the chemical means of isolating it.

In Part II-C, Thomas states that the cDNA does not have the same issues for patentability as naturally occurring DNA since creating a cDNA involves producing a DNA sequence that did not previously exist. Although he acknowledges the argument by the Association for Molecular Pathology that the sequence in cDNA is dictated by nature rather than the lab technician, he states that the cDNA the technician creates is unquestionably new and thus is patent eligible.

Part III of the opinion explains which subject areas the Court was not making a decision on at the time. Thomas begins by stating that the Court did not hear any method patent claims since Myriad did not implement a novel approach to DNA manipulation. He stated that since scientists understood and frequently used the methods by which Myriad isolated and sequenced the BRCA1 and BRCA2 genes, they were ineligible for patents. Thomas continues by stating that the case also did not involve patents on new applications of knowledge since the Association for Molecular Pathology left Myriad’s patents relating to the application of BRCA1 and BRCA2 unchallenged. Thomas ends Part III by stating that the Court did not consider the patentability of DNA with alterations to the naturally occurring nucleotide sequence and issues no holding on that question. Instead, the Court holds that under subsection 101 of the US Patent Act, genes as well as the information they contain are ineligible for patents even if they are isolated from the rest of the genetic material.

In a concurring decision, Justice Antonin Scalia agreed with the Court on all opinions except Part I-A, and other sections involving the details of molecular biology since he was unable to personally affirm those details. He stated that since isolated DNA is identical to that section of DNA in nature, it is unable to be patented. He also agreed that cDNA is patentable since it is synthetic and not naturally found.

Legacy and Impact

The decision in AMP v. Myriad has impacted court decisions in the US and beyond. As of 2024, over 2,900 cases have cited AMP v. Myriad, including two other cases at the Supreme Court. In one such case, Alice Corporation v. CLS Bank International (2014), in following AMP v. Myriad’s reasoning, the Supreme Court found that computer-implemented inventions are abstract ideas and thus not patent eligible. In 2015, the High Court of Australia followed AMP v. Myriad in their decision of a case involving Myriad’s patentability of the BRCA1 gene. The case involved a cancer patient who took Myriad to court in Australia. That patient wanted the cost of genetic testing to be lower, allowing for greater accessibility to those tests. The Australian courts considered the arguments of AMP v. Myriad in their decisions. In 2015, the cancer patient won their case against Myriad for their patents on the BRCA1 gene.

AMP v. Myriad invalidated thirty years’ worth of gene patents by the USPTO and established greater legal requirements for the patentability of DNA. The case also prohibited Myriad from retaining exclusive rights to genetic testing. In other words, AMP v. Myriad allowed many biotechnology companies to screen for cancer in the BRCA1 and BRCA2 gene regions. That enabled greater availability and accessibility of diagnostic tests for cancer screening. A 2022 study observing rates of BRCA testing found that the rate of women receiving BRCA testing increased from thirty-four per 100,000 women in 2007 to 488 per 100,000 women in 2016. The Supreme Court’s decision that isolated genes cannot be patented allowed research on BRCA to continue, left room for continued research into the human genome, and ensured that no part of the human genome can be monopolized.