In Ariosa Diagnostics, Inc., et al. v. Sequenom, Inc. et al., Nos. 2014-1139 and 2014-1144 (Fed. Cir. June 12, 2015), the Federal Circuit affirmed a district court’s finding on summary judgment that certain method claims of Sequenom’s U.S. Patent No. 6,258,540 (the ’540 patent) are invalid as being directed to patent ineligible subject matter under 35 U.S.C. § 101, finding that using conventional methods of detecting a naturally occurring phenomenon did not transform the natural phenomenon into a patentable invention. Judge Reyna wrote the opinion for the panel which included Judges Linn and Wallach. Judge Linn concurred.

The decision employed a two-step framework outlined in the Mayo Collaborative Services v. Prometheus Laboratories, Inc., 566 U.S. ___, 132 S. Ct. 1289 (2012), requiring a determination of whether (1) the claim at issue is directed to a patent-ineligible subject matter and (2) if so, determining whether the additional elements of the claim transform the nature of the claim into a patent-eligible application. While the Court noted that “[m]ethods are generally eligible subject matter,” it reasoned that it is the steps in the method that “are the additional features that must be new and useful.” Using this framework, the Court found that the asserted claims of the ’540 patent “are generally directed to detecting the presence of a naturally occurring thing or a natural phenomenon, cffDNA [cell-free fetal DNA] in maternal plasma or serum” and that the method of “a general instruction to doctors to apply routine, conventional techniques when seeking to detect cffDNA is not new and useful” and, therefore, “does not result in an inventive concept that transforms the natural phenomenon of cffDNA into a patentable invention.”

The ’540 patent is directed to methods of using a naturally occurring “cffDNA” taken from the blood stream of a pregnant woman for prenatal diagnosis of gender and genetic defects which avoid taking samples from the fetus of placenta. Claim 1 of the ’540 patent states:

1. A method for detecting a paternally inherited  nucleic acid of fetal origin performed on a mater-nal serum or plasma sample from a pregnant fe-male, which method comprises

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

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

The Court found that the claimed method “begins and ends with naturally occurring phenomenon,” and that the existence of cffDNA in maternal blood is a natural phenomenon, which was not disputed by Sequenom. As for the method steps, the Court found that both the specification of the ’540 patent and statements made by the applicant during the prosecution of the ’540 patent contained admissions that the amplification by, for example, polymerase chain reaction (PCR) and detection of DNA sequences in blood serum or plasma were conventional and well-known activities performed by doctors in 1997. Moreover, Sequenom’s expert testimony supported this conclusion. Thus, not finding that the steps of the method of detecting cffDNA were new, the Court held that “appending routine, conventional steps to a natural phenomenon, specified at a high level of generality, is not enough to supply an inventive concept.”

The Court also addressed Sequenom’s argument, among others, that “before the ’540 patent, no one was using the plasma or serum of pregnant mothers to amplify and detect paternally-inherited cffDNA,” noting that implies that the invention is the discovery of cffDNA in blood, which is not the invention claims by the ’540 patent. While agreeing and acknowledging multiple times that the discovery of cffDNA in maternal plasma made a significant contribution that revolutionized prenatal care, relying on Myriad (Ass’n for Molecular Pathology v. Myriad Genetics, Inc., 569 U.S. ___, 133 S. Ct. 2107, 2117 (2013), the Court concluded that that alone does not make the method claims patentable:

We do not disagree that detecting cffDNA in maternal plasma or serum that before was discarded as waste material is a positive and valuable contribution to science. But even such valuable contributions can fall short of statutory patentable subject matter, as it does here.

In sum, applying known methods to a ground-breaking discovery of a natural phenomenon will not pass the patentable subject matter test. The decision underscores the importance of continued inventive (in the context of the U.S. patent law) innovation in the diagnostic space for methods claims analyzing biological samples to withstand the Section 101 ax.

In his concurrence, Judge Linn reasoned that the Mayo decision’s blanket dismissal of “any ‘[p]ost-solution activity that is purely conventional or obvious,’” in the second part of the subject-matter eligibility test was unnecessary and is the very reason that Sequenom’s claims must be held invalid. It was unnecessary, Judge Linn reasoned, because doctors in Mayo were already performing in combination all of the claimed steps of administering the drug at issue there. Judge Linn further noted that in contrast to Mayo, “[i]t is hard to deny that Sequenom’s invention is truly meritorious” and that “Sequenom’s invention is nothing like the invention at issue in Mayo.” Despite such stark factual difference, Judge Linn reasoned that Mayo’s “blanket dismissal of conventional post-solution steps leaves no room to distinguish Mayo from this case, even though here no one was amplifying and detecting paternally-inherited cffDNA using the plasma or serum of pregnant mothers.” An unfortunate result, indeed, not only for the diagnostic industry, but for the healthcare industry at large especially in view of the fact that diagnostics are playing an increasingly important role in practically every therapeutic area. 

This decision immediately impacts especially those prosecuting, enforcing, or defending diagnostic patents as well as those developing innovative new medical diagnostics.