This case involves the discovery of cell-free fetal DNA (cffDNA) in maternal plasma and serum, a protion of maternal blood that before had been discarded as medical waste. Based on this discovery, a method for detecting the small fraction of paternally inherited cffDNA in maternal plasma or serum to determine fetal characteristics, such as gender was developed. Plainitff commercialized the invention with a “MaterniT21” test. The test was very beneficial in that it created an alternative for prenatal diagnosis of fetal DNA which avoided taking samples from the fetus or placenta. Defendants, including Ariosa Diagnostics, make and sell non-invasive prenatal and paternity tests. The tests are based on the underlying revolutionary technology by Sequenom, Inc. that maternal plasma/serum DNA is a useful source for non-invasive prenatal diagnosis of genetic disorders.

The steps of Plaintiff’s main method claim included amplifying the cffDNA contained in a sample of a plasma or serum from a pregnant female and detecting the paternally inherited cffDNA by PCR. In the detecting step, the cffDNA is added to an agarose gel so that the paternally inherited cffDNA could be visualized. The patent also provided for making a diagnosis of certain fetal characteristics based on the detection of paternally inherited cffDNA. 

Claim 1. A method for detecting a paternally inherited nucleic acid of fetal origin performed on a maternal serum or plasma sample from a pregnant female, which method comprises

amplifying a paternally inherited nucleic acid form the serum or plasma sample and 

detecting the presence of a paternally inherited nucleic acid of fetal origin in the sample. 

The Federal Circuit applied the two step analysis of Mayo which is (1) first to ask whether the claims are directed to a naturally occurring phenomena and (2) second whether the claim contains an inventive concept sufficient to “transform” the claimed naturally occurring phenomenon into a patent eligible application.

Even, the plaintiff conceeded that the step (1) was met, given that even the specification stated that “the most important observation in this study is the very high concentration of fetal DNA in maternal plasma and serum”. All parties thus agreed that the claims at issue were directed to detecting the presence of a naturally occurring thing (natural phenomenon) of cffDNA in maternal plasma or serum.

The Court next turned to the more dificult issue of whether the claims at issued contained an inventive concept sufficient to “transform” the claims into a patent eligible application of the natural law. Plaintiff made the following arguments that the claims in the patent amounted to patent eligible applications of a natural phenomenon, each of which the Court dismissed.

(1) The claimed method contained patent eligible applications of a natural phenomenon, specifically a method for detecting paternally inherited cffDNA using methods like PCR to amplify and detect cffDNA.

The Court dismissed this argument finding that methods like PCR were well understood, routine and conventional activity in 1997. The method thus amounted to a general instruction to doctors to apply routine, conventional techniques when seeking to detect cffDNA. Even applicant’s specification pointed to the fact that the preparation and amplification of DNA sequences in plasma or serum were well-undertood, routine, conventional activities performed by doctors in 1997, stating that “[t]he preparation of serum or plasma from the maternal blood sample is carried out by standard techniques” such as PCR. Because the method steps were well-understood, conventional and routine, the method of detecting paternally inherited cffDNA was not new and useful. The only subject matter new and useful as of the date of the application was the discvoery of the presence of cffDNA in maternal plasma or serum. 

(2) Before the patent, no one was using the plasma or serum of pregnant mothers to amplify and detect paternally-inherited cffDNA. In other words, plainitff argued that the inventive concept lies in the discovery of cffDNA in plasma or serum. 

The Court dismissed this argument, finding that even if true, the claim was not directed to disccovery of cffDNA in plasma or serum. 

Another note of importance was plaintiff’s argument that its publication on the discovery had been cited over a thousand times. The Court dismissed this by restating the Supreme Courts statement in Myriad Genetics that “[g]roundbreakin, innovative, or even brilliant discovery does not by itself satisfy the section 101 inquiry”. As with Myridad where the discovery of the BRCA1 and BRCA2 genes was a significant contribution to the medical field, the discovery was not patentable.  While the Court did not disagree that detecting cffDNA in maternal palsma or serum that before was discarded as waste is a postive and valuable contribution to science, it held that it still did not constitute patentable subject matter. 

Given this case, is there any way out for inventors of groundbreaking technology these days?

The answer is probably – NO!  However, the case does leave some openings. As mentioned above, the Court noted that the claim was not directed to discovery of cffDNA in plasma or serum. This is somewhat perplexing because the claim above is directed to “detecting a paternally inherited nucleic acid of fetal origin performed on a maternal serum or plasma sample“. So while it is not clear what the Court means by this statement, it could be a possible opening.

It would appear from the case that the only way out would be to come up with novelty in the process steps themselves. In other words, one must take the process steps of the application of the natural principle outside the realm of “conventional” activity in the field. This will be difficult indeed in that coming up with a more useful detection technique such as PCR will be a very difficult if not insurmountable task for most inventors. The case appears to place a real damper on possibly very innovative diagnostic inventions. But as the Court states, the current law is who cares? –novelty or importance of the invention has no place in the analysis where the claim is directed to a natural phenomena.