Caskey also described how the usefulness of the gene index has improved with the addition of more sequences. When the general location of a disease gene is known from genetic mapping, limited sequencing is an important strategy for finding the gene. By sampling the critical region, the small bits of sequences can be used to search for homologies in the gene sequence database. In this way, a previously sequenced gene or gene fragment can be identified as being located in a critical region. Such a gene is then a prime suspect for more detailed studies in those individuals carrying the disease. Initially, the success rate for this technique of finding disease genes in positionally cloned regions was only about 40%. As the size of the gene database increases, so does the success rate. This is, therefore, becoming a fast and facile method for identifying a disease gene in a critical region identified by genetic mapping.

Sikella suggested that the success of the Human Genome Project may be measured, in part, by how the knowledge that it generates benefits society. He emphasized the importance of making these benefits available in a cost-effective way.

The Advent of DNA Sequencing Presents Important Questions about Patentability

Leon Rosenberg commented that "although the debate seems to have cooled a bit, the issues surely have not been resolved." Tom Caskey of Merck and William Haseltine of HGS both commented that they have no quarrel with the current criteria for patents, but they express different views as how those criteria should be interpreted. Since the workshop, HGS has received patents on a number of ESTs with broader claims of utility than the initial EST patent applications filed by NIH in 1974. Whether this will influence the debate over ESTs is an open question. Caskey noted that after one has an EST, identifying the full length sequence cDNA is the obvious next step. And yet this rarely leads to precise knowledge of that gene's function. He predicted that the complete cDNA sequences might become the 1997 version of ESTs—that is, research tools which many people do not believe meets the full potential criteria of novelty, nonobviousness, and utility. Rosenberg suggested that "the biomedical research community has not yet truly grappled with the possibility that a large number of genes could be controlled by the rights of a relatively small number of parties who could not possibly hope to fully exploit their potential value." He suggested that if research tools are not made available to the scientific community and others, we will have to confront this issue directly, whether that requires changes in patent law or other equally drastic directions.



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