Medical research heads into the realm of sci-fi as it begins predicting whether an individual might suffer from specific diseases based on their genetic code. At the same time, these advances in medical knowledge require billions in research from companies expecting to make a return on their investments. Can a company own the rights to an individual’s genetic code? Are you willing to sell the patent rights to your genetic code to extend your life?
Myriad Genetics, Inc., a company based in Utah, obtained a number of patents based on their discovery of the BRCA1 and BRCA2 genes. A recent U.S. Supreme Court case involves claims from three of those patents which in particular attempt to patent the isolated genes themselves. Yesterday’s Supreme Court ruling in Association for Molecular Pathology v. Myriad Genetics Inc. centered on a long standing rule of patentability; the exclusion of products of nature. In an opinion written by Justice Thomas the Supreme Court unanimously held that isolated, natural forms of DNA are unpatentable.
It is estimated that the human body has 22,000 genes, basic fragments of DNA, packed into 23 pairs of chromosomes inherited from a person’s parents. Each gene is made of a sequence of millions of nucleotides. The nucleotides can be further divided into both exons (which code for amino acids) and introns (which do not code for amino acids). Different arrangements, of nucleotides in each gene correspond to different characteristics of the person. In addition to benign characteristics such as eye color, a person’s genetic code can indicate an increased risk of some diseases. Knowing that you are at a higher risk for certain diseases can provide the opportunity to take different preventative measures.
Myriad obtained several patents on isolated forms of BRCA1 and BRCA2, two genes which may indicate an increased risk of breast and ovarian cancer. BRCA1 correlates to a 50-80% risk level of breast cancer, while BRCA2 correlates to a 20-50% risk of developing ovarian cancer. In addition to patenting the isolated BRCA1 and BRCA2 genes Myriad patented composite DNA (cDNA) versions. cDNA is essentially synthetically created DNA which contains only the exons that occur in DNA.
Myriad discovered the precise location and sequence of the BRCA1 and BRCA2 genes and their correlation to a hereditary increase in women’s risk of developing breast and ovarian cancer. This discovery was not as easy as it sounds; BRCA1 is about 80,000 nucleotides long and is found on chromosome 17 which has approximately 80 million nucleotides. Knowledge of the gene’s precise location allowed Myriad to develop medical tests to determine if a patient’s BRCA1 and BRCA2 genes contained a mutation indicative of an increased risk.
Isolation is necessary to conduct genetic testing, and after Myriad’s discovery other entities began providing genetic testing services to women. Upon discovering medical professionals and researchers isolating the BRCA1 and BRCA2 genes, Myriad began to assert their patents threatening prosecution against infringers. Petitioner Ostrer, a researcher at NYU School of medicine along with medical patients, advocacy groups and other doctors filed a lawsuit seeking a declaration that Myriad’s patents were invalid. The District Court Myriad denied a motion to dismiss based on a lack of standing and found that Myriad’s patents for both DNA and cDNA were invalid because they were products of nature. The Federal Circuit reversed but the Supreme Court in 2012 granted the petition for certiorari and vacated the judgment regarding standing and remanded the case. On remand, the Federal Circuit determined that only Ostrer had standing and that Myriad’s patents for isolated DNA and cDNA were both patentable. The Supreme Court again granted certiorari.
The Court expressed Myriad’s accomplishment as an important discovery, rather than an innovative creation. The Court felt that simply separating a gene from its surrounding genetic material was not an act of invention, therefore Myriad did not create a “new . . . composition of matter,” as required under 35 U.S.C. §101. Justice Thomas went on to write, “It is undisputed that Myriad did not create or alter any of the genetic information encoded in the BRCA1 and BRCA2 genes. The location and order of the nucleotides existed in nature before Myriad found them. Nor did Myriad create or alter the genetic structure of DNA.”
However, the Court used the same logic to determine that composite DNA (cDNA) may be patentable. Since cDNA is an exons-only molecule that is not naturally occurring, the Court felt Myriad had created a “new . . . composition of matter.” Although the petitioner argued that the nucleotide sequence of cDNA is dictated by nature, the Court believed that since it required a lab technician to exist, it was a new creation. By holding that cDNA may be patentable, the Court seems to have taken a middle ground.
Several questions remain unanswered. Justice Thomas stressed in the opinion what was and was not implicated by the decision, resulting in a very narrow ruling. Perhaps the most important unanswered question is whether cDNA will survive the other objections to patentability raised by the petitioner. The most notable objection being that cDNA will not overcome the non-obvious standard. Finally, the Court did not review any methods for locating, manipulating, or testing genes, leaving several of Myriad’s patents intact.
This case brought to the forefront the issue of bringing highly technical questions before the Supreme Court. In oral arguments the Court and attorneys alike seemed to struggle to grasp the finer points of Myriad’s claims, and resorted to countless analogies. In his concurrence, Justice Scalia stated that he was unfamiliar with the finer points of microbiology and expressed his discomfort with joining the part of the opinion which detailed the science behind Myriad’s claims. However, he went on to affirm the judgment stating simply that “the portion of DNA isolated from its natural state sought to be patented is identical to that portion of the DNA in its natural state.”
Justices across the bench raised concern during oral argument as to how a decision may impact research and development in technical fields like the biomedical industry. Although the decision appears to be a major blow to a company that believed it had a right to be the sole user and analyst of two human genes, Myriad has since released its own review of the opinion in which it highlights the Court’s support for cDNA patents. Many initial reports showed Myriad’s stock prices up as much as 12% in the first few hours after the decision but opened today down 12% from its opening price yesterday. Although the decision will provide access to BRAC1 and BRAC2 genes to many researchers and hopefully lower the costs for women seeking treatment advice, its effects on innovation in the field of biomedical research will take some time to determine.
For the full opinion: Association for Molecular Pathology v. Myriad Genetics.