Policy Statement Archives

The American Society of Human Genetics (ASHG), a society of over 4500 American and Canadian physicians, scientists and genetic counsellors has followed the development of the Human Genome Project with great interest, and considers it to be of great potential benefit to the field of medicine. In a statement strongly supportive of the Project (Am. J. Hum. Genet. , 687-691, 1991), the Society endorsed an emphasis on the cloning and sequencing of expressed sequences as one route to achieve greater potential relevance for human health. The ASHG is now deeply concerned about the recent submission of patent applications for expressed sequence tags (ESTs) by scientists at the National Institute of Neurological Disorders and Stroke.
The issues relate to two questions, "can they be patented?" and "should they be patented?" (Science, 254 184-186, 1991; Nature 353 485-486, 1991). The Human Genome Committee of the ASHG has taken the view that the issuing of patents for ESTs is likely to do far more harm than good, and that before any patents are issued the impact on the Human Genome Project and on the field of medicine should be carefully examined. This view is supported by the ASHG Board of Directors.

First, it should be pointed out that the ASHG has not opposed patenting of genetic information when that information had utility. This would include, for example, recombinant clones for the production of human proteins (e.g. factor VIII, growth hormone, erythropoeitin) and disease gene probes for diagnostic testing, carrier identification and prenatal diagnosis (e.g. cystic fibrosis, muscular dystrophy, fragile X syndrome).

The attempt to patent ESTs, however, is another matter. The ASHG does not support the concept of patenting a short sequence from a randomly isolated portion of a gene encoding a protein of unknown function. "How can you patent something when you don't know what it is, much less what it will be used for?" (Science, 254, 184-186, 1991).

Furthermore, the ASHG does not consider that the three tenets of patentability (novelty, non-obviousness and utility) have been met. We wish to make two points in this regard. First, there is absolutely nothing novel about the identification of ESTs. An EST is simply a DNA sequence of a short segment of a cDNA clone that is picked more or less at random from a set of cDNA clones obtained by essentially standard published procedures. The idea of picking a large number of cDNA clones and using the sequence of a short piece of each as a genetic marker or tag is also an obvious approach that has been extensively discussed in the human genetics community and it is currently the basis of on-going genome projects both within and outside the USA.

Second, the utility of ESTs can be seriously questioned. Scientific experience suggests that an EST itself is unlikely to have commercial utility. The anticipated utility of an EST is simply as a research tool to identify the remainder of the coding region of the gene. Additional research would allow the determination of its DNA sequence, the deduced amino acid sequence of the encoded protein, reagents to generate antibodies against the protein and clues to the protein's structure and function. Further, if the protein was defective in individuals with a genetic disease or genetic predisposition to disease, then the gene and it's product might have utility in diagnostic or therapeutic applications for that disease. Thus, the utility would not be known until additional research was complete and the utility would almost certainly rest with the full cDNA, the genomic clones containing the gene or the protein product of the gene, and not with the EST itself. The EST is, at best, a starting point for further research, and should not be patentable.

With regard to the second question - should they be patented? - the ASHG is concerned that patenting of ESTs may be quite detrimental to the interests of the Human Genome Project and to society. The issue is complex. Indeed, the genome project itself is a venture whose very nature, magnitude and scope is new to society, and the complex ethical, legal and social issues raised by the project are challenges worthy of careful and considered debate. At this time, the issue of patents for ESTs deserves particular attention.

The primary concern is that the Human Genome Project should be a project of international collaboration. It should not be a competition between laboratories and between countries to see who can "own" the largest portion of the human genome. HUGO, the international Human Genome Organization, has stated this principle since its inception in 1988. The patenting of ESTs clearly and unequivocally contradicts this principle. There is no question that the patenting of ESTs by the NIH group, or by anyone else, will precipitate a race to isolate ESTs in many countries, a race to patent throughout the world and a race to exploit the genome information for all its "worth". It is virtually certain that under such conditions the information would not be shared between the competing groups until after patents are secured, so that duplication of effort will be impossible to avoid.

A second concern is the morass of competing claims that will be created by allowing patents for ESTs. Since an EST is part of a gene it is clear that different ESTs from the same gene may be isolated by different groups. Furthermore, a gene is often part of a gene family so that one EST may recognize more than one gene. We anticipate major problems in dealing with patent claims when several research groups could end up with competing claims for the same gene or genes. In essence, an EST is not specific enough to be the only marker for a gene nor to be a marker for only one gene.

A third concern is the potential inhibitory effect of patenting ESTs on the scientific community, both academic and commercial. Normally, a patent ensures that a gene will be available for all researchers and for any company willing to license it. We fear that in the case of ESTs it may have quite the opposite effect. An EST patent, to be useful to the commercial sector, must make broad claims in regard to future use, including protection for the rest of the gene and its protein product, and their use for diagnostic and therapeutic applications. The academic community is unlikely to put major research effort into an EST-identified gene or its protein product if someone else already has the right to license its use based on the trivial effort required to sequence the original EST. In the commercial sector there may be reluctance to invest heavily in further research on EST-identified genes when a small but unknown fraction of them will turn out to have commercial utility, and when the useful ones may be contested by patents involving other ESTs from the same gene. Genome research could end at the level of ESTs.

Finally, we wish to make one point with regard to urgency in this matter. The ASHG recognizes that the decision regarding patentability of ESTs in the US rests with the US Patent and Trademark Office. Given the high stakes of the decision on medical science, the biotechnology industry, the delivery of health care, and on the international cooperativeness in all these areas, the ASHG urges the patent office to give high priority to the resolution of the EST patent issue.

Furthermore, we urge the patent office to take into account not only the current patent law, but to consider also the implications of the decision for the field of medical science and for the international community in which we live. One argument for patenting ESTs has been that if they were published without patenting this might compromise the patentability of a future diagnostic or therapeutic procedure based on a gene or gene product derived from an EST in the public domain. What is needed without delay is a statement from the US patent office with regard to this potential problem. If it is not a problem, then it takes away the main argument for patenting ESTs. If it is a problem, then perhaps the best course is to rethink current patent law and to amend it to insure that the genome effort is not thwarted by laws developed in simpler times to deal with simpler issues.

An international collaborative venture as bold as the Human Genome Project should not be jeopardized by the possibility of irrevocable damage inflicted by EST patents, the majority of which may never have any commercial utility. Let us strive to ensure that patents are obtainable at a stage in the process that will still allow commercial exploitation of genetic information, but not so early in the process that it will stifle individual scientific endeavour and lead to international chaos.

The Human Genome Committee and The Board of Directors
The American Society of Human Genetics
 

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