The commercialization of research in life sciences over the past few decades is strongly influenced by the remarkable development and application of new genetic engineering technologies. The study of genomics greatly expanded when the scientists started to unravel the mechanism between genes and protein in health as well as in diseased condition. In 1990, the Human Genome Project was established in order to identify the genes in human DNA as well as to determine the order of the 3 billion base pairs in human DNA. In 2001, the human genome draft was developed which reported about 30,000-40,000 human genes, majority of which were implicated in diseases and disorders.
“Intellectual property has existed in some countries for centuries and biotechnology patents have been granted in several jurisdictions for years, but it is only in the past decade that heated controversy has risen around the patenting of biological entities.”1
The topic of patenting of DNA has galvanized over the past decade because the application of the patent system in the field of biotechnology is mainly aimed to strike a reasonable balance between the rights of inventors and the public interest. Ethical, legal and scientific concerns intermingle that opens the mind to create a thought provoking discussion.
‘Patenting DNA’ or ‘Patents that assert rights over DNA’ raise a number of ethical issues due to various factors such as the special status of the DNA, legal criteria for patenting as well as the possible deleterious consequences for healthcare and research related to healthcare. It is therefore important to assess further the application of patent system in relation to DNA sequences.
In general view, it has been envisaged that the law has tended to be generous enough in relation to DNA sequences. In case of many granted DNA patents, the claims were broad in scope and it obtained all protection on all the uses of DNA, including the protein which the DNA produces. Many of these patents were granted only when the criteria for patenting such as inventiveness and utility were inadequately applied.
With regard to patent claims, four distinguished applications of DNA sequences are identified VIZ., diagnostic testing, research tools, gene therapy and therapeutic proteins.
Diagnostic Testing’ is mainly based on the identification of DNA sequences that are significantly implicated in a disease. BRCA1 is a gene that has been found implicated in some forms of breast cancer2. BRCA1 has been used to develop a diagnostic test. BRCA1 test is protected by product patents as well as by use patents, which contains claims to the use of DNA sequence for diagnosis. There has been a considerable opposition to the grant of these patents, mainly because it creates not only exclusive market for Myriad Genetics, the owner of patents, but also prevents others from competing with them through the development of better diagnostic methods, using the same ‘BRCA1 gene’. Mutations of individual genes as those manifested in cystic fibrosis, haematochromatosis have been the subject of patents relating to diagnostic tests. The development of such diseases or disorders is affected by many numbers of genes (polygenic) as well as several environmental factors. Therefore, the identification of such genes is very important in the prediction of diseases, nevertheless, the process of such prediction is very complicated. The authenticity of such prediction is inevitably weaker as the effect of each gene may be smaller.
Although doubts exist that such genes enable reliable predictions to be made of diseases, some investment is being made into developing a new generation of diagnostic tests which aim to alert patients and their doctors to a predisposition to major diseases3. The grant of patents for such genes will be the motivating factor in promoting the investment in research in life sciences.
The knowledge of the DNA sequence in the gene and the disease-associated mutations is applied by using it as a basis for detecting and characterizing the gene in the patients. Hence the identification of the gene and a disease can be considered more than a discovery. It was argued that at the time genes such as BRCA1 were patented, the identification required lot of efforts and human intervention 3. Despite the effort involved, the isolation of the gene BRCA1 was essentially considered a discovery, the application of which was useful. On the other hand, DNA sequences that have been characterized by in silico analysis shall not be allowed due to the lack of inventiveness.
The term ‘inventing around’ means developing a similar product which performs the same function but put together in a different way from the existing inventions. Therefore if a patent also claims the products expressed by the gene in question, it becomes an arduous tasks for other scientists to ‘invent around’ such genes or the proteins expressed by it. Working with such patents requires an individual to seek a license from the holder of the patent. Broad patents not only thwart the development of improved diagnostic tests but also restrict other forms of research. Research into the genetic basis of diseases is much more expensive than the research and development for diseases associated with a single gene as the method is time-consuming and characterized by high degree of uncertainty4. It is evident from the aforesaid, that without the promise of patent system investment in biotechnology and biomedicine through private funding, could be on the decline and patients would be denied potentially valuable diagnostic tests.
Proposals and Future Directions
- The criteria for patenting DNA sequences in particular the criterion for inventiveness should be more stringently applied.
- If a use patent could be defined, so that the owner of the patent is entitled to rights only to the use of the DNA sequence, for his specific diagnostic tests for the disease involving the use of the sequence, this could not only provide sufficient incentive for the disease involving the use of the gene, but also result in the development and marketing of a number of different tests for the same gene.
- For those patents in which the monopoly to the diagnostic use of a DNA sequence is not in the public interest those seeking to use the diagnostic tool or develop an alternative should seek a compulsory license from the relevant authorities.
DNA sequences that are used in research are termed as a research tools. Such sequences have no immediate therapeutic or diagnostic use. Two main types of research tools are Expresses Sequence Tags (ESTs) and Single Nucleotide Polymorphisms (SNPs). ESTs represent the coding parts of genes that led to the extensive application of this method as a method of locating genes. SNPs are also important research tools which are used in research to help locate genes associated with disease or identify genetic variation which may predispose to diseases.
The owners of patents commercialize them either by licensing them for particular sequences as in case of CCR5 5 or by applying the knowledge aimed at discovering new drugs or other research. For example; in 2000, Incyte Pharmaceuticals has made claims in relation to over 4,500 human DNA sequences in more than 570 patent applications. In cases of patents that assert rights over DNA sequences whose claims amounts to routine discoveries with weakly demonstrated and speculative uses, the patents will seldom deserve the status of patentable invention6. Proposals and Future Directions
- It is recommended that when rights are asserted in terms intended to cover all sequences that contain the ESTs that are the subject of original patent, no patent should be granted.
- In general granting of patents which assert rights over DNA sequences as Research Tools should be discouraged.
- In case of public institutions which already have been awarded patents that assert rights over DNA sequences as research tools be strongly encouraged not to licence them exclusively to one or a limited number of licensees, even when not by doing so they may suffer some loss of revenue in short term.
- The need to seek multiple licenses for many sequences may hinder research and development, hence companies work together to extend the concept of the “research exemption” throughout the industry for DNA sequences which appear in patents and which have a use in research.
Certain diseases are caused by mutations or mistakes in the human genome. A particular disease can be caused by number of different mutations in the same gene. Gene therapy treatments involve the use of DNA sequences. Hence if the gene is patented, treatment of gene therapy will depend on the availability of a license from the owner of the patent. It is recommended that once a gene associated with a disease is identified, the use of the relevant DNA sequences in gene replacement therapy to alleviate the effects of mutation in that gene is obvious; hence, the protection by product patents should not be allowed.
Patents that assert rights over the therapeutic proteins assert rights over the DNA sequences as well as the protein characterization process itself. This is because; the DNA is pivotal to the production of the protein and is considered as an intermediate in the manufacturing process. Therefore, it is recommended that while rights asserted over DNA sequences which are used to make new medicines based on therapeutic proteins are generally acceptable. It should be narrowly defined. By this it is meant that the rights to the DNA sequence should extend only to the protein described.
Various research institutions and international bodies are involved in fostering healthy debates about the true impact of Patent system on health issues. It is also equally important to maintain a moderate view on the impact of genetics on health outcomes. The work of sequencing the human genome was a landmark achievement, but it is only a tiny step along a process that will take several years to reach its full potential. Nevertheless, the milestones achieved should be properly rewarded with incentives, in order to handle the barriers and mould the directions of research.
Clarifying the patents that assert rights over the DNA sequences suggest a set of strategies for encouraging right kinds of research and a more equitable distribution of benefits between the researchers and the society.