Patenting of Human Gene Sequences

Technology

Human genetic information, in the form of whole and partial gene sequences, can be useful in a wide range of applications. A gene may be useful in diagnosis - for example, some people may carry a form of the gene which increases their susceptibility to certain diseases. Alternatively, the protein product (such as an enzyme) encoded by the gene might be useful as a therapeutic agent, for example in a patient lacking sufficient enzyme of their own, or the protein might be useful in an assay method for screening potential drugs for activity against a cell surface receptor known to be involved in a particular disease process.

Gene sequencing, that is, the determination of the structure of genes, has been carried out for many years. Formerly, the effort was directed to elucidating the sequence of genes for specific proteins. New techniques for rapid automated gene sequencing have revolutionised the science, and worldwide efforts continue, following the successful sequencing of the entire human genome in 2003, and aim to elucidate the genetic basis for certain diseases and to provide ways of diagnosing or even curing them.

The development of diagnostic and therapeutic applications can take many years of research and carries no guarantee of scientific or commercial success. A study (DiMasi JA et al., 'The price of innovation: new estimates of drug development costs', J Health Econ, 2003, Mar; 22(2): 151-85) puts the average pre-tax cost of successfully developing a new drug and obtaining marketing approval for it at US $802 million in 2000 prices. Although the exact cost is open to argument, the overriding message is that substantial cost and commercial risk is involved with these inventions.

Patent Law

The aim of the patent system is to encourage and reward innovation and the risk-taking involved, granting patents to people who meet the legal requirements of the system, allowing them a time-limited monopoly (the basic term is 20 years) over the working of the invention during which they can look to commercialise it and (hopefully) recoup their R&D costs and make a profit. Patent applications are published 18 months after they are first filed, and when a granted patent expires, the invention can be freely worked by everybody.

Inventions are generally patentable if they are industrially useful, novel and involve an inventive step (i.e. they are not trivial modifications of previous proposals). Importantly, this means that it is not possible to patent a human gene or protein etc. per se when it is naturally found in the human body - the owner of a patent cannot own a part of you. Instead, such a patent will be limited to e.g. the gene etc. 'isolated and/or purified', or to specific uses such as diagnostic tests or medicaments. In addition, a patent must make a full disclosure of the invention so that it can be worked by another skilled person.

The patenting of biotech inventions, including genes and gene fragments, is also subject to specific requirements adopted by patent offices (the European Patent Office and national patent offices) corresponding to the European Directive on the Patenting of Biotechnological Inventions (approved by the European Parliament in May 1998). This requires that for a human gene sequence (or partial sequence) to be patented, its industrial application must be shown in the patent application. This helps strike the balance between encouraging innovation by rewarding it with the grant of patents which allow commercialisation of inventions and which fund further research and development work, and ensuring that speculative patent applications relating to human genes do not succeed.

It is important to recognise that patent law is concerned with the technical merits of particular inventions and not with their social desirability, although morally offensive inventions are prohibited. For a European patent to be granted, it must not be contrary to 'order public' or morality. Case law has found that the patenting of DNA fragments and encoded proteins is neither immoral nor unethical.

However, inconsistencies have arisen in the national implementation of the European Directive (above), with France and Germany limiting the protection available through directly-filed national patents. In France, the patenting of whole or partial human gene sequences per se is banned, and claims directed to human gene sequences are limited to the specific applications disclosed in the patent application. In Germany, claims to human gene sequences (or partial sequences) must be limited to the use disclosed in the application.

The grant of a patent confers only a civil right on the patent owner to prevent others doing what is claimed in the patent. It does not give the patent owner any rights to actually exploit the invention. The existence of a patent makes no difference to the need to comply with national regulations regarding manipulation of genetic materials.

Conclusion

Overall, the patent system provides significant benefit to society by giving the necessary incentive to those who invest in research resulting in inventions of real practical benefit which, in turn, lead to the development of useful products, such as pharmaceuticals. Furthermore, the public availability of the information contained in a patent application promotes scientific progress and innovation.

Patent protection should therefore be available for inventions relating to human gene sequences. The fact that such an innovation involves a gene of human origin should not prevent a patent being granted, provided that the usual criteria for patentability are met.