By James Evans

The Secretary's Advisory Committee on Genetics, Health, and Society no longer exists, having been allowed to sunset in late 2010. The committee was active on many fronts, having weighed in on the issue of genetic discrimination, direct to consumer genetic testing, and the regulation of laboratory testing, among others. One of its most high profile legacies may be the work that it did with regard to gene patenting.

In early 2010 SACGHS made a set of formal recommendations to the Secretary of Health and Human Services advocating that legislative actions be pursued to create an exemption from infringement for those who use patented genes in diagnostic tests as well as to create a broad research exemption for those who use patented genes in the pursuit of research. The report also advocated against the granting and enforcement of "association patents" in which a simple association between genotype and phenotype is claimed as patentable. The recommendations of SACGHS were lauded by some and reviled by others.

In light of events since issuance of that report, the recommendations may seem less extreme to those who objected to them. Notably, in the spring of 2010, Judge Roberts Sweet issued a ruling in the Federal District Court for the Southern District of New York which, while tangibly of minimal effect, served to dramatically focus attention on the issue of gene patents and make a high profile court case even more dramatic (Association for Molecular Pathology et al. v. US Patent and Trademark Office et al.). In short, Judge Sweet ruled in summary judgment that the plaintiffs were correct and that genes were not legitimately patentable material. His argument was novel and, at least to this geneticist, persuasive. In short, Judge Sweet argued that the natural function of a gene is to encode information and thus the mere isolation of a gene (or for that matter its manipulation into another form which does not substantially affect the nature of that information) does not qualitatively change the material in any legitimate intrinsic sense and therefore cannot be patented.

The next surprising development was the filing of an amicus brief by the Department of Justice which argued largely in support of the plaintiffs, agreeing that naturally occurring genes are not patentable material. The case is being appealed, and while conventional wisdom holds that Judge Sweet's decision will be overturned, if there is one thing we should have learned from the recent history of gene patents and the courts it is that making predictions is a rather hazardous endeavor.

Taking the (perhaps naïve) view that logic should play a role in the decisions of courts, it seems to me that the way forward is clear. The information content of any given gene has evolved over millions of years and human genes existed within us long before we began to dissect our own genomes. Patenting the information contained in human genes (by either patenting a naturally occurring gene or a modified version of that gene which imparts essentially the same information) is extremely hard to justify while maintaining a straight face. The law has always held that we cannot patent gold, sunshine or an unmodified field mouse. It is therefore difficult to envision just how we could legitimately sanction the patenting of naturally occurring genes or the information contained therein. One is, of course, perfectly free to patent novel and inventive methods for purifying an element like gold or silver, as well as new means of capturing sunlight to accomplish a particular purpose like powering an electrical grid. One is also free to patent a new type of mouse that has never existed before. In the same vein, if one modifies the information in a gene in a way that is novel, non-obvious, and useful, it is eminently reasonable to expect patent protection on such an invention. The creation of new DNA sequences that perform novel feats and convey novel information should be patentable-but merely isolating a naturally occurring gene and distilling its information (for example in a cDNA), no matter how difficult, ingenious or useful, renders that gene no more patentable than silver would be should I invent a new method for its purification. 

In the furor over gene patents it is often forgotten just why the patent system exists in the first place. Patents were enshrined in the US Constitution in order to "promote the progress of science and useful arts." Thus the primary intent of the patent system is a broad social goal-not the creation of profit. Certainly the harnessing of self interest is a significant means by which the patent system exerts its power, but we should not forget that stimulation of commerce is only the means by which we hope to achieve the beneficial effects of the patenting system. If the primary intent of the patent system was merely the stimulation of commerce then we would, as the DOJ brief pointed out, allow the patenting of far more things than we do. 

The hyperbole found on both sides of this debate can reach remarkable levels. On one hand, I see no inherent metaphysical objection of the patenting of genes or life forms as long as they are truly novel, useful and non-obvious. Indeed, should human ingenuity prove able to best evolution by creating novel DNA sequences which impart new information in order to treat disease and ease human suffering, this seems a worthy (and patentable) pursuit. On the other hand, patenting is not a right. It is a privilege granted when certain specific conditions are met-conditions which have not been met by those who hold current gene patents.

Moreover, the claims that the commercial scientific infrastructure of the country will topple if gene patents are found to be unenforceable are silly. Indeed, the evidence suggests that far from precipitating catastrophe, the elimination of gene patents would be a boon to commercial activity. The SACGHS report, based on empiric studies of the gene patenting landscape, is particularly informative with regard to this issue. About 20% of the human genome is patented, which means that some disease-relevant genes are under patent while some are unconstrained by exclusivity. In work commissioned by SACGHS, a study of this landscape revealed that for genes which happen not to be under exclusive constraint (such as cystic fibrosis and Huntington's disease) a thriving market place  exists where dozens of laboratories-both private and public-vie to outcompete one another on the basis of innovation, quality and service. However, for those genes controlled by patent-enabled exclusivity, where only a single laboratory is permitted to analyze them, what one sees is a striking lack of any meaningful competition, undermining access, quality and innovation. To be sure, those few companies that have staked their business model on insuring no competition through the enforcement of gene patents will suffer should genes be rendered unpatentable-but both the broad market and the public will benefit.

Finally, the SACGHS report advocated that a broad exemption be made for those who use patented genes in the pursuit of research. Nothing could be more in keeping with the intent of the patent system itself. Indeed, restricting research with patents is antithetical to the very purpose of the patent system: instead of promoting progress, it squelches progress and innovation at the most proximal conceivable point. 

Thoughtfully granted patents are an undeniable boon to progress and human well being, but inappropriately granted patents can just as surely suffocate innovation. Eliminating patents on naturally occurring phenomenon such as the information contained in genes is not only logical but will stimulate progress and productivity. The elimination of toll gates at the extreme upstream position of the gene will harness self interest and human ingenuity to the benefit of all.          


James P. Evans, PhD, MD, directs the Clinical Cancer Genetics Services at the University of North Carolina School of Medicine and was a member of the Secretary's Advisory Committee on Genetics, Health, and Society.

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