Many of the workshop participants echoed the HUGO statement of concern that "the patenting of partial and uncharacterized cDNA sequences will reward those who make routine discoveries but penalize those who determine biological function or application. Such an outcome would impede the development of diagnostics and therapeutics." Both Harold Varmus and Gerald Rubin suggested that some researchers are likely to be discouraged from working on patented ESTs for fear that the patent holders would lay claim to their future discoveries, particularly discoveries about gene function, which are clearly of far greater biological utility than the identification of anonymous fragments and are more likely to have useful applications for human health.
Several previous reports have stated that research-tool claims should not be so broad as to block the discoveries outside of the patent (House of Commons Science and Technology Committee 1995, National Academies Policy Advisory Group 1995). No one at the workshop argued otherwise.
Fragile X syndrome, which is the most-common form of mental retardation, provides an example of how ESTs can contribute to human disease. The name refers to the fact that the X chromosome is easily broken. Caskey described how he, Steve Warren, and Ed Benustra used an EST to discover that the genetic defect involves multiple repeats of the nucleotide triple CGG. They went on to characterize the gene, and that provided the information necessary to develop what is now the most widely used diagnostic test for fragile X syndrome. When they made their discovery, the sequence information on the gene involved gave no information on function. It was investigators like Bob Nussbaum, and Dreyfus, at Philadelphia, who went on to identify the gene's function.
Caskey suggested that if speculative claims were permitted among a certain set of ESTs the rights of investigation to discover that gene would be denied.
James Sikella cited the example of the HIV patent, which is jointly held by the US and French governments. The patent has not been tightly restricted for investigational use. At the time of its filing, its sequence and functions were not described. Many discoveries about HIV have evolved from that sequence information, and Sikella noted that it would have been a disservice to the public if the sequence information had not been available as a general research tool.
As of this workshop, some 27,000–5,000 human genes were represented in the database. Humans are estimated to have about 80,000–100,000 genes, so that represents about one-fourth to almost half of the total. Tom Caskey predicted that as the database begins to be flooded with sequence information, there will be a higher stringency on patents and patent claims will be directed more toward functional aspects of the genes, rather than being primarily descriptive.