Association for Molecular Pathology v. Myriad Genetics, Inc., 569 U.S. 576 (2013), was a case challenging the validity of gene patents in the United States, specifically challenging certain claims in issued patents owned or controlled by Myriad Genetics that cover isolated DNAsequences, methods to diagnose propensity to cancer by looking for mutated DNA sequences, and methods to identify drugs using isolated DNA sequences. Prior to the case, the U.S. Patent Office accepted patents on isolated DNA sequences as a composition of matter. Diagnostic claims were already under question through the Supreme Court’s prior holdings in Bilski v. Kappos and Mayo v. Prometheus. Drug screening claims were not seriously questioned prior to this case.
The case was originally heard in Southern District Court of New York. Proponents of the validity of these patents argued that recognizing such patents would encourage investment in biotechnology and promote innovation in genetic research by not keeping technology shrouded in secrecy. Opponents argued that these patents would stifle innovation by preventing others from conducting cancer research, would limit options for cancer patients in seeking genetic testing, and that the patents are not valid because they relate to genetic information that is not inventive, but is rather produced by nature. The District Court ruled that none of the challenged claims were patent eligible.
Myriad then appealed to the United States Court of Appeals for the Federal Circuit. The Federal Circuit reversed the district court in part and affirmed in part, ruling that isolated DNA that does not exist alone in nature can be patented and that the drug screening claims were valid but that Myriad’s diagnostic claims were unpatentable. On appeal, the Supreme Court vacated and remanded the case for the Federal Circuit to reconsider the issues in light of Prometheus. On remand, the Federal Circuit held that Prometheus did not affect the outcome of the case, so the American Civil Liberties Union and the Public Patent Foundation filed a petition for certiorari. The Supreme Court granted certiorari and unanimously invalidated Myriad’s claims to isolated genes. The Supreme Court held that merely isolating genes that are found in nature does not make them patentable.
The global search for a genetic basis for breast and ovarian cancer began in earnest in 1988. In 1990, at a meeting of the American Society of Human Genetics, a team of scientists led by Mary-Claire King, from the University of California, Berkeley announced the localization through linkage analysis of a gene associated with increased risk for breast cancer (BRCA1) to the long arm of chromosome 17. It was understood at the time that a test for these mutations would be a clinically important prognostic tool. Myriad Genetics was founded in 1994 as a startup company out of the University of Utah, by scientists involved in the hunt for the BRCA genes. In August 1994, Mark Skolnick, a founder of Myriad and scientist at University of Utah, and researchers at Myriad, along with colleagues at the University of Utah, the National Institutes of Health (NIH), and McGill University published the sequence of BRCA1, which they had isolated. In that same year, the first BRCA1 U.S. patent was filed by the University of Utah, National Institute of Environmental Health Sciences (NIEHS), and Myriad. Over the next year, Myriad, in collaboration with University of Utah, isolated and sequenced the BRCA2 gene, and the first BRCA2 patent was filed in the U.S. by the University of Utah and other institutions in 1995. In 1996, Myriad launched their BRACAnalysis product, which detects certain mutations in the BRCA1 and BRCA2 genes that put women at high risk for breast cancer and ovarian cancer.
Myriad’s business model has been to exclusively offer diagnostic testing services for the BRCA genes. It was on the basis of the premium price that the patents would allow Myriad to set during the 20 year life of the patents, that investors put money into Myriad. These were the funds that allowed Myriad to rapidly sequence the BRCA2 gene and finalize a robust diagnostic test. The business model meant that Myriad would need to enforce its patents against competitors, which included diagnostic labs at universities, which function very much like for-profit businesses in addition to educating pathologists-in-training. The patents were to expire, starting in 2014. In 2012, Myriad—just a startup in 1994—employed about 1200 people, had revenue of around $500 million, and was a publicly traded company.
About 2000 isolated human genes had been patented in the United States before this case started. Gene patents have generated a great deal of controversy, especially when their owners or licensees have aggressively enforced them to create exclusivity. Clinical pathologists have been especially concerned with gene patents, as their medical practice of offering clinical diagnostic services is subject to patent law, unlike the practices of other doctors which are exempt from patent law. For example, in 1998, the University of Pennsylvania‘s Genetic Diagnostic Laboratory received cease and desist letters on the basis of patent infringement from Myriad, which requested clinical pathologists to stop testing patient samples for BRCA. Because of these kinds of legal threats to its members’ medical practices, the Association for Molecular Pathology has actively lobbied against the existence of, and exclusive licensing of, gene patents and was the lead plaintiff in this litigation.