In the race to map the human genome, many of the organizations involved obtained patents on gene sequences that they identified.  These patents were granted regardless of whether the applicant had determined any role or function of the sequence.  As a consequence, other researchers were effectively “blocked out” of research and development on the patented DNA sequences, unless they were able to negotiate a license.

The unanimous opinion by Hon. J. Clarence Thomas, in Association for Molecular Pathology, et al v. Myriad Genetics, Inc., et al. ((Slip Op.  569 US___(2013) )) completely changes the biotech and medical research landscape: DNA is a naturally-occurring composition and therefore not patentable.  With a single stroke, the Court has opened the flood gates for the development of customized gene-based medicine.  All issued patent claims to DNA sequences are now invalid, the DNA sequences are effectively “in the public domain,” and the sequences may be used in research and development without any need for (costly) licenses.

The Myriad patents at issue covered the BRCA1 and BRCA2 genes, mutations of which are markers for the degree of risk of a person for breast cancer.  These genes were recently the subject of international conversation due to the double mastectomy of actress Angelina Jolie, whose surgery was motivated based on her tests results on these genes.  Myriad had previously asserted these patents against the University of Pennsylvania’s Genetic Diagnostic Laboratory (“GDL”), which had offered a competing test using these genes.  Since Myriad asserted ownership of patent rights in the genes, GDL ceased its program.  As a result, only Myriad was able to offer the testing service.

While the Federal Circuit Court of Appeals was divided on whether DNA was patentable, all agreed that cDNA (a modified version of a DNA strand that has no introns found in the actual DNA strand from which it derives) was patentable.  The Supreme Court ruled unanimously that DNA is not patentable subject matter because it is a discovery of a naturally occurring composition, not an invention.  The Court distinguished this from its previous decision in Chakrabarty (( Diamond v. Chakrabarty 447 US 303 (1980) )), where the scientist inventors had modified a known bacterium by adding four plasmids to it to create a crude-oil devouring bacterium that did not occur in nature.  Thus, the touchstone for patentability of DNA sequences is whether it occurs in nature.  If so, it is not patentable subject matter.

Taking this one step further, the Court also held that cDNA, which may be regarded as an intron-free version of a naturally occurring counterpart DNA sequence, is patentable.  (An intron is any nucleotide sequence within a gene that is removed by RNA splicing while the final mature RNA product of a gene is being generated.) The mere act of removing introns from the DNA, while maintaining the exact sequence as in nature, is patentable subject matter according to the Court.  But, if the DNA strand sequence lacks introns, then its cDNA would be identical to the DNA, and not patentable.  Of course, meeting the “patentable subject matter hurdle” does not mean that an applicant would obtain a patent. There are also the statutory requirements of novelty and nonobviousness that must be overcome.  It is an open question in each application whether the cDNA would, therefore, merit a patent.

In assessing Myriad’s argument that DNA sequences are patentable, the Court conceded that Myriad had expended efforts and that it had identified the location and sequences of both BRCA1 and BRCA2 accurately and completely.  However, this effort in itself cannot transform unpatentable subject matter into patentable subject matter.

Moreover, the Court rejected Myriad’s argument for patentability that it had severed chemical bonds to isolate the genes from the natural DNA sequence to produce a DNA strand that does not by itself occur separately in nature.  The Court found that the “non-naturally occurring” DNA strand was not characterized chemically (such that a competitor might engineer around it) in the patent claims.  Rather, the claims were directed to information in the genes, and not its chemical composition.  Thus, the patent claims did not focus on a unique new chemical molecule.  This suggests that one might still obtain patent protection by chemically defining the DNA sequence (or a vital part of it) and claiming it as a unique chemical molecule.  Other patent hurdles to then overcome include the usual requirements of utility, novelty and non-obviousness.

The Court also noted that method claims directed to using the DNA sequences would fall within the category of patentable subject matter.  Therefore, one might expect going forward that patent efforts in the DNA-related technologies would focus on method patent claims, and patent claims to cDNA sequences, to the extent that these meet other requirements, including novelty and non-obviousness.

Myriad has eased open the door to a potential new era in medical treatment based on the patient’s own unique genome.  This comes at a time when health care costs are rising, and the new technologies, while costly to develop in the near term, may reduce costs and be a boon to mankind in the longer term.  Some argue, on the other hand, that the decision will discourage research in the field.