In a development with potentially far-reaching consequences for the diagnostics industry, the Supreme Court has refused to grant certiorari in Sequenom v. Ariosa, leaving undisturbed the invalidation of a genetic testing patent under Section 101.1 

The patent at issue involves a method of prenatal genetic testing that avoids the risks that accompany invasive procedures such as amniocentesis. The patented method is based on the ground-breaking discovery that blood of pregnant women contains cell-free fetal DNA (cffDNA). Many commentators argued such a method should be patentable because it relates to the practical application of a discovery, not the discovery itself. The Federal Circuit, however, held that the claims covered nothing more than the detection of a natural phenomenon — cffDNA in maternal plasma — in combination with certain conventional activities, like polymerase chain reaction (PCR). In declining to grant certiorari, the Supreme Court has left to the Federal Circuit the task of further delineating the application of Section 101 to diagnostic testing method patents.

The patent at issue (U.S. Patent No. 6,258,540) claims methods for detecting paternally inherited fetal DNA in maternal blood samples, and performing a prenatal diagnosis based on such DNA. Ariosa initially filed a declaratory judgment action against Sequenom alleging that it did not infringe the ’540 patent. The district court held that the ’540 patent is not directed to patentable subject matter under Section 101 and thus invalid, a decision the Federal Circuit affirmed. Sequenom then filed a petition to the Federal Circuit for a rehearing en banc, which was denied. While the Federal Circuit was compelled to affirm the district court in view of the Supreme Court’s controlling prior holding in Mayo,2    the panel seemed to be uncomfortable with its invalidity holding based on Section 101.
Judge Lourie (joined by Judge Moore) pointed out in his denial of the petition for a rehearing that “[a]ll physical steps of human ingenuity utilize natural laws or involve natural phenomena ... [and that, thus], those steps cannot be patent-ineligible solely on that basis because, under that reasoning, nothing in the physical universe would be patent-eligible.” Judge Lourie suggested that the claims may have been invalid due to indefiniteness or overbreadth.
Judge Dyk, who concurred in the rehearing denial, suggested that the claims should not fail under Section 101 because “the major defect is not that the claims lack inventive concept but rather that they are overbroad.”

Judge Newman, who dissented from the rehearing denial, suggested that Mayo was not applicable to Sequenom because “[i]n the case at bar, the inventors are not claiming the scientific fact of the discovery of paternal DNA in the blood of a pregnant woman ... [but] the discovery and development of a new diagnostic method of using this information.”

Sequenom asked the Supreme Court to review the Federal Circuit’s decision, arguing that its patent claimed innovative and practical uses for cffDNA through unconventional methods, and that it did not foreclose other methods of prenatal diagnostic testing based on cffDNA. And Sequenom emphasized that the biotech industry would benefit from the Court’s clarification of Section 101 jurisprudence. Sequenom’s petition had virtually unanimous support from the life sciences community, and numerous amicus briefs by important industry and academic stakeholders were filed on its behalf.

In particular, Sequenom argued that “[r]ight now, Section 101 doctrine lacks any discernible limits, and so no company can trust in the patent system when deciding whether to invest in bringing an invention to market.” As a result, since “biomedical innovations are uniquely vulnerable to the Federal Circuit’s interpretation of Mayo because of their inherent connection to basic biological research, ... neither aspiring scientists nor venture capitalists may see much to gain in developing or commercializing biomedical research.”
As a result of the Supreme Court’s decision not to grant Sequenom’s petition for certiorari and revisit its Mayo decision, uncertainty surrounding the patentability of inventions relating to diagnostic tests will continue. Therefore, now more than ever, inventors and stakeholders in this area are well-advised to seek patent counsel to develop strategies to protect their intellectual property during these uncertain times.