In 1994, Myriad Genetics Inc., in collaboration with the University of Utah, McGill University, and the National Institutes for Health (NIH), identified and sequenced the first known hereditary breast and ovarian cancer susceptibility gene, BRCA1, and applied for a patent on the isolated sequence the same year. The following year, Myriad isolated and sequenced the second such gene, BRCA2, and applied for a patent on the isolated sequence in 1995.
In 1996, backed by the patents for the isolated gene sequences, Myriad launched a breast-cancer diagnostic test, called BRCA Analysis, to detect specific mutations in the BRCA1 and BRCA2 genes linked to an increased risk of breast or ovarian cancer in women. Many doctors worried that the exclusivity granted on isolated genes would impede their ability to test and diagnose patients. Eventually the Association of Molecular Pathology, joined by researchers at the University of Pennsylvania, sued Myriad Genetics in the United States District Court for the Southern District of New York.
On March 29, 2010, Judge Robert W. Sweet of the Southern District invalidated all patent claims brought by Myriad Genetics, ruling that “DNA's existence in an 'isolated' form alters neither this fundamental quality of DNA as it exists in the body nor the information it encodes”. Therefore, genes simply isolated from the human genome cannot be patented. Myriad Genetics filed an appeal, and the case went to the United States Court of Appeals for the Federal Circuit.
On appeal, the Court of Appeals for the Federal Circuit agreed in part and reversed in part the district court’s ruling. Judge Alan Lourie, writing the majority opinion, reasoned that because isolated genes were “markedly different” than genes found in the body, the isolated genes represented a composition of matter and could be patented. After the ruling, the Association of Molecular Pathologists petitioned for a writ of certiorari to the Supreme Court.
The Supreme Court granted the writ of certiorari, vacated the Federal court’s ruling, and remanded the case to the US Court of Appeals for the Federal Circuit. The Supreme Court had recently issued the Mayo v Prometheus decision. In it, the Court established as precedent that some methods of medical diagnosis —which could include Myriad’s BRAC Analysis—could not be patented as they are natural phenomena.
The FC CoA again ruled Myriad’s isolated gene sequences were patentable. The court did not agree that Mayo’s precedent applied, interpreting Mayo as inapplicable to gene patents. Instead, the Federal Court again found that the BRCA1 and BRCA2 genes, once isolated, were different from genes found in the body, and therefore were a patentable invention rather than a reflection of a natural phenomenon. The case was then appealed to the Supreme Court again, leading to the June 2013 decision.