On August 16, 2012, the U.S. Court of Appeals for the Federal Circuit (CAFC), which has jurisdiction over all appeals involving patent law, confirmed an earlier ruling that DNA molecules isolated from their natural state are patentable subject matter (i.e., such inventions are patent-eligible subject matter under 35 U.S.C. § 101). (Association for Molecular Pathology v. Myriad Genetics, Inc., No. 2010-1406 (Fed. Cir. Aug. 16, 2012)) The CAFC also reaffirmed its earlier ruling that certain method claims directed to identifying anti-cancer compounds were patentable, but certain diagnostic method claims directed to methods of analyzing and comparing the sequences of DNA molecules were not patentable. While this decision protects inventors’ rights in isolated DNA molecules and some methods of using isolated DNA, this decision casts some uncertainty in the area of patentability for diagnostic genetic testing.

Patentability of DNA

The determination of what is a patentable invention is a question that has received significant attention by the courts and commentators over the last several years. Recent cases have addressed the issue in biotechnology, diagnostic methods of treatment, and the computer sciences. The Supreme Court and the CAFC have consistently ruled that the scope of subject matter that may be patented was meant to be broad and inclusive. However, the Supreme Court has also recognized that not everything is a patentable invention under the law. For example, inventions that cover: (i) laws of nature; (ii) physical phenomena; and (iii) abstract ideas have been deemed ineligible for patent protection.

For decades, U.S. patent policy has allowed DNA molecules and genetic tests to be patented. Among other requirements, a patent-eligible DNA molecule must be manipulated and isolated through human ingenuity so as to have a different identity and a distinctive chemical form as compared to naturally occurring DNA.

Courts have also allowed methods of genetic testing to be patented for many years, so long as the test involves concrete and tangible steps, chemical transformations, or the use of a specific machine or device.

The settled understanding that DNA molecules and certain diagnostic genetic tests may be patented was called into question in a recent lawsuit challenging the validity of seven patents claiming DNA molecules used to predict the risk of breast cancer.

Breast Cancer Test Lawsuit

In the early 1990s, researchers at the University of Utah discovered two genes related to breast and ovarian cancer (BRCA1 and BRCA2). When the BRCA1 and BRCA2 genes contain certain mutations the risk of breast and ovarian cancer is significantly increased.

The University of Utah obtained seven patents for this technology (“the BRCA patents”). Among other things, the patents claimed: (1) isolated DNA coding for all or a portion of either of the BRCA genes; (2) methods of detecting mutations in the sequence of the BRCA genes by analyzing such sequences or comparing such sequences to “normal” gene sequences; and (3) a method for screening potential cancer drugs by exposing cells that have been genetically modified to contain the isolated DNA that codes for either of the BRCA genes to the potential cancer drug and measuring the growth rate of the genetically modified cell.

The BRCA patents were licensed to Myriad Genetics, Inc. While Myriad allowed others to conduct scientific research using the patented technology, it prohibited others from using the technology to provide diagnostic testing.

The BRCA1 and BRCA2 tests turned out to be immensely valuable and highly sought after. Due to perceived restrictions on the availability of the BRCA diagnostic tests and pricing concerns, a consortium of individuals, professional organizations, and public interest groups challenged the validity of the BRCA patents, arguing that DNA molecules and the methods of using such genetic material should be ruled ineligible for patenting.

The first court to hear their case agreed. Judge Sweet, in the U.S. District Court for the Southern District of New York, took the position that all DNA, including DNA isolated and transformed from its natural state, is a “product of nature” and may not be patented. He reasoned that DNA primarily conveyed information and isolated DNA, such as was claimed in the BRCA patents, conveyed this same information and was therefore not markedly different from naturally occurring DNA. Judge Sweet also ruled that the method claims presented were simple applications of laws of nature, and thus not patentable.

Myriad appealed to the CAFC. The CAFC issued an opinion in July of 2011 holding that isolated DNA was patentable and that certain method claims were directed to patentable subject matter while certain method claims were not. This decision was vacated by the U.S. Supreme Court, which ordered the Federal Circuit to reconsider its opinion in light of the recent Supreme Court case of Mayo Collaborative Services v. Prometheus Laboratories, Inc. The Federal Circuit published their decision on remand on August 16, 2012.

The Decision

Upon reconsideration, two of three judges hearing the case maintained the position that isolated DNA can be patented. Their position was based on the underlying chemical differences between isolated DNA and DNA in its natural state. The court stressed the chemical differences between isolated DNA and naturally occurring DNA, noting that isolated DNA is markedly different and has a distinctive chemical structure and identity as compared to naturally occurring DNA. The court also noted that isolated DNA is not simply purified DNA, but is a new material that has a distinct “name, character and use” as compared to naturally occurring DNA. The CAFC also criticized the approach of comparing the similarities between isolated and naturally occurring DNA, stressing that precedent required analyzing the differences in the two rather than the similarities. This includes DNA used as probes, primers, or vectors (as well as other applications). All three judges on the panel agreed that complimentary DNA (“cDNA”) may be patented , since cDNA is a form of DNA that never occurs naturally.

The majority of the court also maintained their position that the method of screening drugs using genetically modified cells is patent eligible. The U.S. Supreme Court decided in 1980 that genetically modified cells may be patented in Diamond v. Chakrabarty. The CAFC stressed that the claimed screening method requires the use of genetically modified cells, which are non-natural products of human ingenuity. The majority of the Federal Circuit panel decided that the “man-made nature of the underlying subject matter” renders the methods of screening patentable.

The appeals court unanimously supported its earlier decision that the claims covering methods of detecting the mutations were not patentable subject matter. These claims recited two actions: analyzing either BRCA gene in a patient, and comparing either BRCA gene in a tumor to the same gene in a non-tumor tissue. The claims did not require the use of any particular chemical process or equipment to achieve the analysis or comparison. The court decided that actions such as “comparing” and “analyzing” by themselves are abstract mental processes of the type that are not eligible for patenting.

The court left open the question of whether the isolated DNA claims were invalid on separate grounds. The court specifically stated that it would not consider whether the isolated DNA claims were invalid as obvious (under 35 U.S.C. § 103), or whether they were impermissibly broad (under 35 U.S.C. § 112). Both of these legal standards have been the subjects of recent judicial decisions as to how they affect claims to DNA molecules; however, the court declined to address those issues in this case.

The Impact on Biotechnology and Genetic Medicine

As the Federal Circuit upheld the long-standing rule for patenting isolated DNA molecules, isolated versions of newly discovered genes may still be patented. Genetically modified cells may still be patented, as may methods of using such cells, including drug screening methods like the ones at issue in the Myriad case. Consequently, this decision affirms the status quo regarding patenting DNA.

However, this decision calls the future of personalized medicine into question. Based on this decision, it is clear that patent claims that merely recite mental steps such as comparing genetic information or analyzing genetic information are not valid. This is part of a larger legal trend, including the Supreme Court’s decision in Mayo, of imposing stricter requirements on patent claims that include purely mental processes.

What is not yet clear is whether a patent may claim a method of genetic analysis if specific chemical manipulations are required. Based on this decision, it appears that a patent may validly claim a method of analyzing DNA if the claim requires the use of specific isolated DNA molecules, such as an oligonucleotide probe or PCR primer. It is not at all clear whether a patent may validly claim analyzing DNA if it requires more generic approaches to analysis.

Any entity that invests in the development of genetic tests should consider the impacts of this decision in developing its intellectual property strategy. Newly developed probes and primers may still be patented. Probes and primers are the most common tools in genetic testing. Thus, patenting probes and primers can exclude others from performing the most widespread forms of genetic testing on a newly discovered mutation. However, the extent to which methods of performing genetic tests themselves may be patented is less certain, especially if the method does not require the use of a specific isolated DNA molecule. Therefore, such method claims should be considered a secondary form of protection.

As for the BRCA test, the University of Utah’s patents still validly claim isolated DNA molecules that are useful in testing for mutations in the genes. Others would be free to perform tests for BRCA if they could do so without using the patented DNA molecules. However, since these patents expire in 2015, potential competitors might opt simply to wait until that time when they will be permitted to conduct the tests using the patented DNA molecules.