The subject matter of gene patents

3.4 Human genetic research aims to enhance understanding of how genes and environmental factors operate and interact to influence the health of individuals and populations—and in so doing, to generate knowledge with the potential to improve individual and community health.[2] Human genetic research may lead to the development and provision of new forms of healthcare involving, among other things, medical genetic testing, pharmacogenetics, gene therapy, and the use of therapeutic proteins or stem cells.

3.5 The Terms of Reference require the ALRC to examine the impact of current patent laws and practices ‘related to genes and genetic and related technologies’. This Report uses ‘gene patents’ as the most convenient term to describe all patents or potential patents that fall within the Terms of Reference—notwithstanding that some of these patents may not claim rights with respect to genes or other genetic material per se.

3.6 The potential subject matter of gene patents may be grouped into four broad categories: genetic technologies; natural genetic materials; isolated genetic materials; and genetic products.[3] These categories of gene patents are explained below.[4] For the sake of brevity, the term ‘genetic materials and technologies’ is sometimes used to encompass all four categories of subject matter.

3.7 Genetic technologies are the methods and items used in genetic research and genetics-based healthcare, including those used in sequencing DNA, medical genetic testing, other diagnostic uses, and gene therapy. For example, many different methods, products and technologies are used in amplifying DNA, such as polymerase chain reaction (PCR) methodology, or cloning DNA using a vector or host system, to enable sequencing to be conducted.[5] Genetic technologies involve the use of many different combinations of methods, genetic materials and products, some of which may be patented or patentable. The patenting of new and improved genetic technologies is generally the least controversial area of gene patenting, since issues of ‘invention’, ‘novelty’, and ‘usefulness’ may be clearer than they are in the case of patents over genetic materials.

3.8 Natural genetic materials are forms of genetic material in their natural state, including DNA, RNA, genes and chromosomes. Patent law in Australia and most other jurisdictions distinguishes between a gene or gene fragment in situ (that is, in the human body or another organism) and one that has been extracted from the body by a process of isolation and purification. Although isolated genetic materials may be patentable, genetic materials in their natural state usually are not. For example, patent claims that encompass DNA must be formulated so as to distinguish clearly what is claimed from the naturally occurring molecule.[6] However, some natural genetic materials may include genetic material in living cells, such as stem cells, which may be patentable when isolated and propagated to produce a cell line.[7]

3.9 Isolated genetic materials are forms of genetic material isolated from nature, for example, in the form of DNA copies known as complementary DNA (cDNA), and the genetic sequences in this material.[8] Isolated genetic material may relate to coding or non-coding sequences, or both.[9] When gene patents extend to isolated genetic materials, the genetic sequences of that material form part of the description of the patented invention.[10] Isolated genetic material relating to whole genes (or the coding sequences of whole genes) may be used in the diagnosis of genetic conditions, the production of therapeutic proteins, gene therapy, and in other ways. Gene fragments include a wide range of different types of isolated genetic materials, including single nucleotide polymorphisms (SNPs), expressed sequence tags (ESTs), and other gene fragments encoding important regions of proteins. The patenting of gene fragments may be controversial in the absence of any disclosure of the function of the gene to which they relate.

3.10 Genetic products are items produced by the use of genetic materials, including proteins, nucleic acid probes, nucleic acid constructs such as vectors and plasmids, and anti-sense DNA. Patentable genetic products include proteins or important functional regions of proteins. As with genetic materials, proteins are naturally occurring but may be patentable when isolated or synthesised. Proteomics is widely seen as the next phase in the development of genetic science, following on from the successful sequencing of the human genome, and may form the basis of new medicines or therapies.

[2] National Health and Medical Research Council, National Statement on Ethical Conduct in Research Involving Humans (1999), Ch 16.

[3] These categories do not have a precise scientific or legal meaning, and are not mutually exclusive.

[4] For more detail, see Australian Law Reform Commission, Gene Patenting and Human Health, DP 68 (2004), [1.25]–[1.41].

[5] For example, in relation to amplification, DNA primers, Taq or other polymerases and temperature cycling apparatus are used. DNA sequencing itself uses instruments that rely on variations of fluorescence labelling, PCR and gel electrophoresis: R Trent, Molecular Medicine: An Introductory Text (2nd ed, 1997), 19.

[6] See Ch 6.

[7] See Ch 15.

[8] The literature often refers to the patenting of ‘genetic sequences’ or ‘DNA sequences’. These terms are also used in this Report, although it is more accurate to say that isolated genetic materials are the subject matter of gene patents.

[9] Coding genetic sequences code for particular proteins. The role of non-coding DNA is yet to be fully established, but it is thought that it may produce secondary signals that integrate and regulate the activity of genes and proteins: L Hood and D Galas, ‘The Digital Code of DNA’ (2003) 421 Nature 444. See also G O’Neill, ‘Ghost in the Machine’, The Bulletin, 11 March 2003, 55.

[10] Human Genome Project, Patenting Genes, Gene Fragments, SNPs, Gene Tests, Proteins, and Stem Cells, United States Department of Energy, <> at 16 June 2004.