The New World of Diagnostic Testing Post-Myriad

February 1, 2014

Patrick R. H. Waller PhD, Daniel W. Young PhD

(as published in Biotechnology Law Report)

In June, the U.S. Supreme Court issued its much anticipated decision in Myriad (Association for Molecular Pathology v. Myriad Genetics). The Court held that naturally occurring DNA segments are products of nature and not patent eligible merely because they have been "isolated." In contrast, the Court held that certain types of synthetic DNA—referred to as cDNA—are patent eligible if distinguishable from natural DNA. Notably, the Court left several questions unanswered by remaining silent on patent eligibility of many commercially relevant forms of synthetic DNA, and not addressing the issue of "isolated" molecules more broadly beyond DNA

Case Background

In an opinion delivered by Justice Thomas, the Supreme Court addressed whether naturally occurring segments of deoxyribonucleic acid (DNA) are patent eligible under federal statute (35 U.S.C. § 101).

The patents at issue, controlled by Myriad, relate to the discovery of BRCA1 and BRCA2 genes and mutations in these genes that are indicative of an increased risk of breast and ovarian cancers. Myriad offers diagnostic testing in which it evaluates patients' BRCA genes to determine whether they have mutations associated with increased cancer risk. Myriad has essentially been the only entity offering this testing and has leveraged its patents to stop others from offering similar tests to evaluate the BRCA genes. This lawsuit began when a group of researchers, medical patients, advocacy groups, and doctors interested in Myriad's testing sought a declaration that Myriad's patents are invalid under patent law.

In 2010, the U.S. District Court for the Southern District of New York concluded that Myriad's isolated DNA claims were invalid because they covered products of nature. On appeal, the U.S. Court of Appeals for the Federal Circuit (Federal Circuit) reversed, taking the view that isolated DNA is not a product of nature because "isolated" indicates that the DNA has been altered from its natural state due, for example, to cleavage of covalent bonds to isolate the DNA from its natural environment.

In 2012, the Supreme Court granted a petition by the plaintiffs for a writ of certiorari, vacating the Federal Circuit's judgment and remanding the case for further consideration in light of its decision in Mayo Collaborative Services v. Prometheus Laboratories, Inc. After rehearing the case, the Federal Circuit reaffirmed its ruling concerning isolated DNA.

The second time around, the Supreme Court disagreed with the Federal Circuit that "isolating" is sufficient to render DNA patent eligible. Citing its decision in Funk Brothers, the Court reiterated that discovery of a natural principle itself does not meet the patent eligibility standard. Rather, as the Court held in Charkrabarty, for a composition to be patent eligible it must be a "product of human ingenuity having a distinctive name, character and use" with "markedly different characteristics from any found in nature." According to the Court, “although Myriad discovered the genomic location of an important and useful gene, separating that gene from its surrounding genetic material is not an act of invention."

Moreover, according to the Court, Myriad's claims were not saved by the fact that isolating DNA from the human genome severs chemical bonds and thereby creates a non-naturally occurring molecule. Rather, the Court viewed the claims as being "concerned primarily with the information contained in the genetic sequence”. For example, the Court pointed out that Myriad's claims "are not expressed in terms of chemical compositions or did not rely on chemical changes that results of isolating particular sections of DNA," suggesting that if the claims recited chemical features that distinguish DNA produced in a lab from natural DNA, they might have passed muster under the patent statute.

With regard to Myriad's isolated cDNA claims, the Court held that, to the extent cDNA is distinguishable from natural DNA, it is not a "product of nature" and thus is patent eligible.

Outlook

There was an initial perception that the Supreme Court’s decision in Myriad would open the floodgates for other companies to market BRCA tests, thereby reducing the cost and making the tests more accessible to patients. This was likely heightened by the immediate announcement that several companies, including Ambry Genetics and Gene-By-Gene, would begin to offer BRCA analysis services.

But the situation is not that simple. The Supreme Court’s decision was focused on only a subset of Myriad’s claims, and further litigation will be required to clarify the validity and scope of the remaining claims in Myriad’s portfolio. Indeed, Myriad responded by filing infringement suits against both companies and is seeking preliminary injunctive relief to stop them from offering BRCA testing.

Myriad asserted that it was filing the lawsuits because the testing requires use of methods and synthetic DNA over which Myriad has exclusive patent rights. Myriad emphasized the Supreme Court’s decision only impacts 5 of its 520 patent claims relating to BRCA1 and BRCA2 testing and took the position that “[w]hile the Court invalidated a small number of claims, it clearly affirmed the patent eligibility of synthetic DNA and underscored the importance and applicability of method-of-use patents for gene-based diagnostic tests.”

Many view the Court’s decision in Myriad as marking a new era for the medical and biotech communities. While the decision is significant, it does not mean the end for patenting in the diagnostics industry and other industries utilizing genomic techniques. The real impact of this decision will become clearer through future litigations, including the outcome of Myriad’s recent suits.

The bottom line for now is: claims to isolated DNA segments that exist in nature are not patent eligible, but claims to certain synthetic molecules relevant to genetic testing—as well as certain method-of-use patents—likely remain patent eligible.

As a final point, because the Court emphasized that "isolation" is not sufficient to render natural DNA fragments patent eligible, the implication of this decision on the patent eligibility of other isolated molecules such as isolated RNAs, polypeptides (including antibodies and therapeutic proteins), and others is unclear and likely will be addressed in future litigations.