Association for Molecular Pathology v. Myriad Genetics, Inc.

Citation: Not availableDocket: 12-398

Court: Supreme Court of the United States; June 13, 2013; Federal Supreme Court; Federal Appellate Court

Original Court Document: View Document

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Myriad Genetics, Inc. obtained patents for the BRCA1 and BRCA2 genes, linked to increased breast and ovarian cancer risk. These patents would give Myriad exclusive rights to isolate these genes and create synthetic versions known as composite DNA (cDNA). Petitioners challenged the validity of Myriad's patents under 35 U.S.C. § 101, arguing that they cover products of nature. Initially, the District Court agreed, ruling the patents invalid, but the Federal Circuit reversed this decision. Following a remand, the Federal Circuit found both isolated DNA and cDNA patent eligible.

The Supreme Court held that naturally occurring DNA segments are products of nature and not patent eligible solely due to isolation. However, cDNA is considered patent eligible as it is not naturally occurring. The ruling emphasizes the Patent Act's prohibition on patents for natural phenomena while allowing for inventions that present new and useful compositions of matter. Myriad's contribution was primarily the identification of the genes' locations and sequences, which falls within the law of nature exception.

In Diamond v. Chakrabarty, 447 U.S. 303, the Supreme Court addressed patent eligibility, specifically whether Myriad Genetics' actions constituted a discovery that was "new" with characteristics distinct from those found in nature. The Court noted that Myriad did not create or alter the genetic information in the BRCA1 and BRCA2 genes, which it identified but did not patent as new compositions of matter under §101. The substantial effort to discover these genes does not meet the requirements for patentability, as isolating DNA does not inherently change its chemical composition or the genetic information it encodes. Myriad's claims were deemed insufficient as they focused on genetic information rather than the chemical changes that result from isolation. Myriad’s reliance on past practices of the Patent and Trademark Office (PTO) for gene patents was dismissed, noting that there was no Congressional endorsement of such practices in this case. The Court differentiated between naturally occurring isolated DNA, which lacks patent eligibility, and complementary DNA (cDNA), which is considered patentable since it is not a product of nature; cDNA is a synthetic creation resulting from the removal of introns from a DNA sequence. The ruling clarified that the case did not involve method claims or altered nucleotide sequences. The Court affirmed in part and reversed in part the decision from the Federal Circuit. Justice Thomas delivered the opinion, joined by the other Justices, with Justice Scalia concurring in part.

The case examines the patent eligibility of naturally occurring DNA segments and synthetic DNA (cDNA) under 35 U.S.C. § 101. It concludes that naturally occurring DNA segments, even when isolated from the human genome, are not patent eligible as they are considered products of nature. In contrast, cDNA, which retains the protein-coding information of natural DNA but excludes non-coding regions (introns), is deemed patent eligible because it does not occur naturally. The ruling affirms in part and reverses in part the decision of the United States Court of Appeals for the Federal Circuit.

Additionally, the document explains the structure and function of DNA, which comprises approximately 22,000 genes within the human genome, organized into chromosomes. DNA's double helix structure consists of nucleotide pairs (adenine with thymine, and cytosine with guanine) linked to a sugar-phosphate backbone. The process of protein synthesis involves transcription, where DNA is transcribed into pre-RNA, and splicing, which removes non-coding introns to produce messenger RNA (mRNA). This mRNA is then translated into amino acids by ribosomes, leading to protein formation. While DNA extraction and isolation occur through established laboratory techniques, the informational sequences and synthesis processes occur naturally within cells.

Synthetic DNA can be created from mRNA using established genetic processes, resulting in complementary DNA (cDNA) that contains only exon sequences, as introns are removed during natural mRNA splicing. Mutations in genetic sequences, which can be minor (affecting a single nucleotide) or major (involving extensive rearrangements), can impact protein production and contribute to diseases. Myriad Genetics made a significant discovery by identifying the BRCA1 and BRCA2 genes, mutations of which significantly increase the risk of breast and ovarian cancers. The general risk for breast cancer in American women is 12-13%, but those with specific BRCA mutations face risks between 50-80%. Prior to Myriad's research, the specific genes associated with these cancers were unknown. Myriad located the BRCA1 and BRCA2 genes on chromosomes 17 and 13, respectively, which contain approximately 80 million and 114 million nucleotides. The BRCA1 gene comprises about 5,500 nucleotides when counting only exons, while BRCA2 has about 10,200. With the identification of these genes’ sequences, Myriad developed tests for detecting mutations in BRCA1 and BRCA2, which inform cancer risk assessments. Myriad subsequently sought patents on its findings, including nine composition claims from three patents, with specific claims covering isolated DNA coding for the BRCA1 polypeptide.

Claim 1 asserts the isolated DNA sequence as defined in SEQ ID NO:1, which contains the cDNA sequence coding for the BRCA1 amino acids, specifically listing only the cDNA exons. The Federal Circuit ruled that claim 2 covers a patent on this cDNA nucleotide sequence. There is no "typical" gene due to individual nucleotide sequence variations, referred to as "wild types." The claims under review include claims 1, 2, 5, 6, and 7 of U.S. Patent 5,747,282, claim 1 of U.S. Patent 5,693,473, and claims 1, 6, and 7 of U.S. Patent 5,837,492. Claim 5 addresses isolated DNA with at least 15 nucleotides from claim 1, implying that even mutated BRCA1 genes likely contain segments corresponding to the typical gene. Claim 6 similarly pertains to isolated DNA with at least 15 nucleotides from claim 2. The remaining claims mention common mutations rather than typical sequences. If valid, Myriad's patents would grant it exclusive rights to isolate BRCA1 and BRCA2 genes and their 15-nucleotide segments, as well as the right to synthetically produce BRCA cDNA. Myriad interpreted this as a right to exclude others from utilizing these patented compositions. Genetic testing for BRCA was conducted by entities like the University of Pennsylvania’s Genetic Diagnostic Laboratory (GDL), which ceased testing after Myriad's infringement claims. Myriad also pursued legal action against others performing BRCA testing, leading to settlements that halted their activities.

Myriad was established as the sole provider of BRCA testing, prompting petitioner Ostrer, along with patients, advocacy groups, and other doctors, to file a lawsuit seeking a declaration of invalidity for Myriad's patents under 35 U.S.C. § 101. The District Court denied Myriad's motion to dismiss for lack of standing, referencing MedImmune, Inc. v. Genentech, Inc. The court granted summary judgment to petitioners, concluding that Myriad's claims, including those related to cDNA, were invalid as they pertained to products of nature. The Federal Circuit later reversed this decision, and the Supreme Court granted certiorari, vacated the judgment, and remanded the case in light of Mayo Collaborative Services v. Prometheus Laboratories, Inc. 

Upon remand, the Federal Circuit affirmed in part and reversed in part, with all judges agreeing that only Ostrer had standing due to Myriad's actions against him and his willingness to conduct BRCA testing if Myriad’s patents were voided. On the merits, the court determined that both isolated DNA and cDNA were patent-eligible under § 101, with differing opinions among the judges regarding whether isolating DNA constituted an inventive act. Judges Lourie and Moore agreed on the patent eligibility of Myriad's claims but differed in rationale. Judge Lourie emphasized that the isolation process chemically alters DNA, creating nonnaturally occurring molecules, which rendered them distinct from their natural counterparts. He rejected the argument that isolated DNA was ineligible for patent protection as a product of nature, asserting that the chemical nature of these molecules, rather than their informational content, justified their patentability.

Judge Moore partially concurred with Judge Lourie's conclusion that breaking covalent bonds is sufficient for isolated DNA to be patent eligible but did not fully endorse this view. She also considered the United States Patent and Trademark Office's (PTO) practice of granting such patents and the reliance interests of patent holders, while admitting her decision might differ if approached from a fresh perspective. Judge Bryson concurred in part and dissented in part, asserting that isolated DNA is not patent eligible. He argued that the breaking of chemical bonds does not inherently create a new product and emphasized that the nucleotide sequences of isolated DNA are identical to those in naturally occurring human genes. Bryson stated that the structural similarities between isolated and naturally occurring DNA outweigh any structural differences arising from bond breaking, which he deemed uncreative. He dismissed the PTO's stance on patentability, citing the Federal Circuit's view that the PTO lacks substantive rulemaking authority on such issues. Despite differing opinions on isolated DNA patentability, all three judges agreed that patent claims concerning cDNA are patent eligible, as cDNA is synthesized in the lab and does not exist in nature due to the removal of introns. The discussion also references the broader legal context of patent eligibility under Section 101 of the Patent Act, which excludes laws of nature, natural phenomena, and abstract ideas from patentability. Furthermore, the Court found sufficient grounds for a declaratory judgment in the case involving Dr. Ostrer, per the precedent set in MedImmune, Inc. v. Genentech, Inc.

The excerpt addresses the limitations of patent protection regarding naturally occurring phenomena and the implications for innovation. It emphasizes that patents should not "tie up" essential scientific and technological tools, as this would hinder future innovation, which contradicts the purpose of patents. The Court notes that naturally occurring products cannot be patented, as they are not created by humans; however, inventions that embody or apply natural laws may qualify for protection. 

The situation surrounding Myriad Genetics is examined, specifically regarding their patents on the BRCA1 and BRCA2 genes. It is acknowledged that Myriad did not create or alter the genetic information; rather, their contribution was the identification of the genes' locations and sequences. The key question is whether this discovery constitutes a patentable invention. 

The Court references the landmark case Diamond v. Chakrabarty, where a modified bacterium was deemed patentable due to its new characteristics resulting from human ingenuity. In contrast, Myriad's act of isolating genes does not meet the threshold of invention required for patentability. The discussion also references Funk Brothers Seed Co. v. Kalo Inoculant Co., highlighting that discovery alone, even if significant, does not satisfy the criteria for patent eligibility under §101. 

Overall, the excerpt underscores the delicate balance in patent law between promoting innovation and preventing the monopolization of naturally occurring phenomena.

The patent applicant sought to patent a combined inoculant of nitrogen-fixing bacteria that did not inhibit each other. However, the Court ruled that the composition was not patent eligible, as the applicant did not alter the bacteria, thus failing to meet the criteria for a "product of invention." This finding fell under the law of nature exception, similar to the case of Myriad Genetics. Myriad discovered the location of the BRCA1 and BRCA2 genes but did not create new compositions of matter, which are required for patent eligibility. The patent descriptions indicated that Myriad's findings were primarily about identifying gene locations and mutations associated with cancer risk, rather than presenting a novel chemical composition. The claims did not focus on the chemical changes resulting from isolating DNA but rather on the genetic information itself. Myriad's extensive research efforts did not satisfy the requirements of §101 for patent eligibility.

A would-be infringer could potentially evade Myriad’s patent claims on whole genes by isolating a DNA sequence that includes the BRCA1 or BRCA2 gene along with an additional nucleotide pair, as this would create a unique molecule that is not chemically identical to Myriad's patented invention. However, Myriad's claims focus on the information within the genetic sequence rather than the specific chemical composition. Myriad asserts that the U.S. Patent and Trademark Office’s (PTO) previous practice of granting gene patents should be respected, referencing the case J. E. M. Ag Supply, Inc. v. Pioneer Hi-Bred Int’l, Inc. but the court disagrees, noting that the J. E. M. decision involved plant patents and that Congress has not subsequently supported the PTO's stance on gene patents. Myriad's reliance on a single sentence from the Consolidated Appropriations Act of 2004, which does not explicitly mention genes or isolated DNA, is deemed insufficient. The United States has also argued that isolated DNA does not qualify for patent eligibility under §101, which challenges the legitimacy of the PTO's practices. Unlike isolated DNA, cDNA, which is derived from mRNA and consists only of exons, does not face the same patentability issues. Myriad also contends that upholding its patents is necessary to protect the reliance interests of patent holders, but concerns regarding reliance should be addressed to Congress rather than the courts.

Random incorporation of cDNA fragments into the genome during viral infections creates pseudogenes, which do not contribute to protein expression due to lacking necessary genetic sequences. Petitioners failed to prove that these pseudogenes match the BRCA1 cDNA sequence. The possibility of a naturally occurring molecule resembling a synthetic one does not negate patent eligibility. Although petitioners claim cDNA is dictated by nature, its creation involves a lab technician, resulting in a new entity. cDNA contains naturally occurring exons but differs from its source DNA, making it patentable under §101, except for very short sequences that may resemble natural DNA.

The case does not involve method claims or new applications of knowledge about the BRCA genes. Myriad Genetics could have pursued method patents had they developed innovative gene manipulation techniques, but their processes were already established in the field. The ruling clarifies that isolated genes and their encoded information are not patentable merely due to isolation from surrounding genetic material. The judgment from the Federal Circuit is affirmed in part and reversed in part. Justice Scalia concurs, emphasizing that isolated DNA is identical to its natural form and that complementary DNA (cDNA) is a synthetic product not found in nature.