On 13 June 2013 the US Supreme Court decided on the case Association for Molecular Pathology v. Myriad Genetics (1). The decision will have far-reaching implications, not just by lowering the costs of genetic tests, but also for the development of innovations in genetics and genomics and in other emerging fields such as stem cell research and synthetic biology (2). It is also a significant development in US patent law and its effect will probably also be felt in other jurisdictions.
Myriad Genetics, known for its breast and ovarian cancer genetic test, BRACAnalysis, had become a leader in the field in part due to the patents that they held over the BRCA1 and BRCA2 genes that enabled them to gain a dominant position in the market. A patent confers the exclusive right to exploit an invention for 20 years. The rationale is that this allows an inventor time to recoup the investment made in developing the invention, thereby fostering innovation and technical progress. Moreover, to get a patent the invention has to be new, non-obvious and susceptible of industrial application.
There has been considerable debate as to whether isolated gene sequences are patentable since they require human intervention to be 'discovered', that is to be isolated within a genome sequence. In Diamond v. Chakrabarty, the Supreme Court held that a modified bacterium was patentable (adding four plasmids to a bacterium enabled it to break down various components of crude oil) (3).
This recent decision can be distinguished from Chakrabarty as the Supreme Court recognised that, with regard to the patents claiming the BRCA1 and BRCA2 gene, Myriad did not create or modify anything. The judges held that the act of mere separation or isolation of naturally occurring DNA could not be considered an invention. They distinguished between a naturally occurring DNA segment, simply isolated, and cDNA, that is synthetically created 'exons-only' strands of nucleotide. The first is considered a 'product of nature', regardless of the human activity of isolating it, and therefore not patentable.
The Supreme Court unanimously stated: 'Myriad did not create or alter either the genetic information encoded in the BRCA1 and BRCA2 genes or the genetic structure of the DNA. It found an important and useful gene, but ground-breaking, innovative, or even brilliant discovery does not by itself satisfy the §101 inquiry'. Differently, although only obiter, the Supreme Court held that cDNA is patent eligible under the §101 US Patent Code. It said: 'Its order of the exons may be dictated by nature, but the lab technician unquestionably creates something new when introns are removed from a DNA sequence to make cDNA'.
For women with certain genetic mutations, the risk of developing breast and ovarian cancer is much higher than in those who do not have this mutation. Myriad discovered the BRCA1 and BRCA2 genes were associated with this cancer, their precise location and sequence, and then patented not only the medical tests useful for detecting these mutations, which are fundamental for cancer prevention, but also the isolated genes. With this decision the Supreme Court says that this is not enough to give a monopoly for a scientific breakthrough of fundamental importance: more is needed. Myriad's claims were not focused on chemical changes resulting from the isolation but on the genetic information encoded in BRCA1 and BRCA2 genes. And even extensive effort in the process of discovery is not sufficient to satisfy their patentability requirement.
This decision may also have implications for the sharing of genetic information between researchers. Even though not expressly stated, the starting point for the reasoning formulated by the Supreme Court seems to be that, under patent law, there is no difference between the information encoded in the DNA sequence and the sample itself. The information contained in the sample and the sample which encodes the information are the same 'product of nature', a '"basic tool of scientific and technological work" that lies beyond the domain of patent protection', as the Supreme Court stated (citing another case, Mayo Collaborative Services v. Prometheus Laboratories (4)). This means that DNA would now be able to be used as part of a 'public commons' instead of being the subject of a patent.
Patent protection should not frustrate the flow of information, which lies at the basis of innovation itself. In any case, it seems that the Supreme Court decision may still leave space to other interpretative issues regarding human gene patentability. For example, the decision doesn't exclude synthetically created exons-only strands of nucleotides (cDNA) for patentability, since they are created in the laboratory ('…because the introns that are found in the native gene are removed from the cDNA segment').
Nevertheless, it would be still necessary to satisfy the other conditions required by the law: that is, novelty, non-obviousness and industrial applicability. But, nowadays, are techniques of simple gene isolation obvious for a person skilled in the art? It stated: 'Scientists can, however, extract DNA from cells using well known laboratory methods'. Would cDNA pass the inventive step requirement? This and many other questions still need to be considered in order to understand the real impact of the Myriad decision, in particular on the sharing of information encoded in DNA sequences.