Myriad's patent claims are directed, inter alia, to several isolated human DNA molecules that represent the BRCA1 and BRCA2 genes. These gene mutations are associated with an increased risk of developing breast and/or ovarian cancer. Because women with these gene mutations are much less likely to survive into old-age, many choose to undergo extensive preventive surgery in an attempt to avoid the risk. In other words, the genetic information and testing technology is important.
Fundamentals of Patentability: Most patentability decisions focus on either an invention's obviousness or a patent's failure to properly disclose the invention. The Myriad case looks at something more fundamental – whether isolated human DNA is, in general, the type of thing that should be patentable.
Product of Nature: In this case, all the parties agree that the claimed DNA molecules are "compositions of matter" that nominally fall within the statutory guidelines of patentable subject matter found in 35 U.S.C. § 101. The disagreement comes from the common law gloss that the Supreme Court has added to the statute. Namely, the Supreme Court has repeated stated that, regardless of the novelty of the invention, neither products of nature nor natural phenomena qualify for patenting. The big issue in this case boils down to whether the claimed molecules fall within this product of nature exception.
Human-Made Inventions: According to the Court, "human-made inventions" sit at the opposite end of the spectrum from products of nature. To be distinguishable from products of nature, a human made invention must be "markedly different" or express "distinctive" characteristics from what is found in nature.
Patenting Isolated cDNA: Myriad's patent also claim cDNA molecules that are synthesized in the lab using the naturally occurring enzymes reverse transcriptase and DNA polymerase. cDNA differs from native DNA in that the cDNA typically (and in this case) represents only the information for a single gene and with unnecessary (intron) information removed. Native DNA is typically part of a large single molecule (a chromosome) that includes lots of genes and lots of introns intermixed between and within gene coding. The human body has a natural process for accessing and using the particular gene when it is needed. To do this, enzymes are able to create an RNA strand that mirrors the DNA information and that removes the introns. In the human, that RNA is then used to create a protein used by the body. For Myriad, the RNA is instead transcribed back into DNA (now called cDNA because it is [c]omplementary to the RNA).
To be clear, Myriad did not claim to invent any of this process or to invent cDNA in general. Rather, Myriad invention is that it created a cDNA molecule that holds the exact same information as the naturally occurring BRCA1/BRCA2 RNA. Certainly, cDNA is chemically different from RNA -- it is preferred in the lab because it is double-stranded and typically more stable. An additional difference here is that the claimed cDNA is isolated from the cell and the living organism so that it it can be tested and used in different ways.
Holding: cDNA is Markedly Different from That Found in Nature: The Federal Circuit considered these arguments, but decided to take a different perspective -- focusing on differences instead of similarities. In holding the claims patentable, the court reasoned that:
- The claimed cDNA is a molecule that is not found in nature.
- The claimed cDNA is quite different from a native chromosomal DNA.
- Human intervention of cleaving and/or synthesizing is necessary to make the cDNA.
- Because the molecule is changed, it cannot be said to be merely "purified."
- Judge Moore goes on to explain that the cDNA sequence is "completely different than the corresponding RNA."
Insignificant Extra-Solution Modification: In a number of cases, the Supreme Court has worked to conflate the issues of patentable subject matter with issues of obviousness and novelty. Thus, for instance, courts have repeatedly noted that insignificant extra-solution modifications of an invention cannot whitewash an otherwise unpatentable invention. Here, potential conflation has a strong foothold because the real breakthrough at the time was discovery of the genetic sequence itself. It took tremendous effort and ingenuity to discover that transcription map and that map was the key to their discovery as outlined in the inventors 1994 Science article. However, in 1994 (the time of the invention) once a sequence was known, almost any trained molecular biology lab technician could manufacture the isolated cDNA with effort but without much necessary ingenuity. If the discovered map itself was unpatentable as merely information and the process to create the isolated DNA was already known, then where is the invention? This type of analysis is outside of mainstream Federal Circuit decisions, but if the Supreme Court takes the case, the interplay between what was invented and what was already known may well be an important element in to the court's discussion of patentable subject matter.