Most of the biotechnology world awaits the U.S. Supreme Court’s answer to the Question Presented, “Are human genes patentable,” in the Association of Molecular Pathologists et al. v. Myriad Genetics case.
Claims to “human genes” have a canonical form that has been developed over the thirty years during which “genes” (human or otherwise) have been patented under U.S. law:
An isolated nucleic acid having a nucleotide sequence that encodes a protein having an amino acid sequence identified by SEQ ID NO. X.
There are several limitations important to consider regarding these claims.
First, what is claimed is a molecule can be described by its sequence but is not the same as that sequence. Also, the nucleic acid must
be isolated from its biological source, generally recognized as coming from genomic DNA or by being enzymatically synthesized (in a laboratory by a scientist) from cellular messenger RNA.
Second, the nucleic acid must have a sequence that encodes the full length of a particular protein; fragments of said sequence lie outside the scope of such claims because they do not encode the protein. This is required because claims must recite useful inventions, and the utility of such claims was to enable the isolated nucleic acid to be used to produce the encoded protein. Genes have been useful because they permitted production in useful quantities of a protein having therapeutic or other beneficial uses. Additionally, if an isolated gene was to be used to produce a therapeutic protein or any of the other patented human genes, it needed to be full-length or otherwise a truncated fragment would be produced that, even if it retained biological activity could perhaps differ in biological half-life, immunogenicity, and numerous other important properties.
Finally, the isolated DNA encompassed by such claims must encode the exact amino acid sequence set forth in the sequence listing (SEQ ID NO: X). Any deviation, however small, precludes literal infringement of the claim. Literal infringement does not lie even if there are miniscule differences, such as a change from a valine to an isoleucine amino acid (a difference of a single methylene group, -CH2-) in a molecule having hundreds of amino acids. An important consequence is that these claims are far narrower than they may look, and “preempt” just what the patentee has disclosed.
The consequences of this construction impact the human gene patenting debate.
First, claims are only infringed if someone without authorization makes, uses, sells, offers to sell or imports an isolated nucleic acid encoding the specified amino acid sequence. Typically, a “gene patent” identifies a cell or tissue source (and, frequently, identifies a plurality of cell or tissue sources as part of its characterization of a gene) that natively expresses the gene. Thus, anyone who uses such a cell or tissue source to study the gene without isolating it will not infringe.
Second, portions of the gene can be isolated, sequenced, and characterized and not infringe; indeed, almost all modern methods for sequencing a gene depend on sequencing such fragments, whereby the full-length molecule is never produced, isolated, or used. Consequently, the methods do not infringe claims to human “genes” and thus have no effect on technologies like personalized medicine.
Third, the gene product (typically, a protein) can be isolated from the cell and studied without infringement, as can antibodies raised against the gene product. These antibodies can be used to detect under- or over-expression of the gene in cell or tissue sources for diagnostic purposes, and mutant forms of the gene product associated with disease can also be produced. All these activities do not infringe the gene claim.
Fourth, because the sequence itself is not claimed (the isolated molecule comprising that sequence is), the sequence itself can be used for any purpose (including comparing an individual’s sequence with the gene as it occurs in healthy individuals or a sequence comprising disease-associated mutations) without infringing. For this reason, technologies such as “whole genome sequencing” and other present or future genetic diagnostic methods are unaffected by the isolated DNA claims and practice of these diagnostic methods do not infringe the DNA claims.
Properly understood, gene patenting does not impose undue burdens on the public. In fact, it is an important contributor to societal benefits, such as better technology to provide prevention and treatment for human diseases. That is the basis for the constitutional mandate that supports Congressional power to grant patents in the first place, and that should be the standard. Thirty years of improvements in genetic diagnostics and gene-based (one way or the other) therapeutics should be enough to answer that question in the affirmative.
Kevin Noonan is at McDonnell Boehnen Hulbert & Bergoff LLP.