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Article Excerpt
Abstract. In this paper we will examine some ethical aspects of the role that computers and computing increasingly play in new genetics. Our claim is that there is no new genetics without computer science. Computer science is important for the new genetics on two levels: (1) from a theoretical perspective, and (2) from the point of view of geneticists practice. With respect to (1), the new genetics is fully impregnate with concepts that are basic for computer science. Regarding (2), recent developments in the Human Genome Project (HGP) have shown that computers shape the practices of molecular genetics; an important example is the Shotgun Method's contribution to accelerating the mapping of the human genome. A new challenge to the HGP is provided by the Open Source Philosophy (I computer science), which is another way computer technologies now influence the shaping of public policy debates involving genomics.
Key words: bioinformatics, copyrights, databases, Human Genome Project, information, open source, patenting, public good, shotgun method, specificity
Introduction: The increasing role of computers in the new genetics
Scholars have questioned the relationship between the new genetics and computer science, beginning at the early stages of the Human Genome Project (HGP). The HGP is the merging of the possibilities of genetic manipulation, with the discovery of Recombinant DNA and Information Technology which allows for the storing, researching, stocking and assembling of the massive amount of data generated by research generated by HGP.
The HGP was started in the mid-1980s in the USA as the project of constructing a "Genomic Centre". In the 1988 the Human Genome Organisation (HUGO), an international scientific organisation for promoting a worldwide collaboration on the HGP, was conceived. The first proposal for studying the human genome within the European Union (EU) was the programme "Preventive Medicine". (Although the work on that programme began in the same year, that EU programme itself was actuated by the European Parliament until 1990.)
The aim of the HGP was to use technologies of molecular biology to analyse the genetic structure of humankind; that is, to put systematically together genetic data (which are the basic units defining forms and functions of a human organism) and to speed up cartographic and systematisation processes of genes.
In order to fulfil this outcome a massive use of computer technologies were needed. According to Thonnard (1996: 6), molecular biologists relied more and more often on computer-aided sequence analysis tools; for example, they needed computer programs to compare DNA and protein sequences, to search for coding regions in DNA sequences, and to predict the secondary and tertiary structure of DNA, RNA and proteins.
Theoretical contribution: The informational model in genetics
A fundamental concept that is shared by both IT and molecular biology is that of "information"; but does that concept have the same meaning in both fields? Several authors argued that molecular biology developed at the same time as computer technology and information theory; these two parallel processes have remained parallel. The biological notion of "information" has developed independently from the one advance by Shannon (in computer science). The expression "genetic information", used for the first time in Watson and Crick (1953), has a metaphorical connotation without any particular reference to the nature of "code". (1) As Crick explained later, for information they intended the specification of the amino acids sequence in the proteins; in Crick's mind such a notion, so to speak, was an "instructive" one (see Fox Keller 1995) rather than "selective" as it is in Shannon's theory. In the 1950s the biological notion of information was identified with the notion of "specificity". In that context, specificity and information had become synonymous terms: they were based on the concept of uniqueness of the sequence as a condition for auto replication. According to Corbellini (1998), this idea illustrates a surprising analogy with a particular approach to the notion of computational information understood at the end of the 1950s. Corbellini also believes that this model overcomes some applicative limits of Shannon's original model, with respect to the importance of the meaning attached to transmitted information. Bosnack (1961) proposed a model in which information was interpreted as "specificity" that is the difference between two entropies (the one before choosing a particular message and the one after such a choice) within a repertoire. Applying such a mathematical definition of specificity, Bosnack, was able to overcome the subjective connotation implied at the semantical level of Shannon's original notion of information. The importance of the semantical level in the biological notion of information was, according to Corbellini (1998), underlined by E.H. Hutten who saws in such notion of specificity an adequate formal definition to explain the transmission of genetic information from nucleic acid to proteins, which has encapsulated the meaning of an order. In other words, while Shannon's idea of information has a statistical value, in biology the semantical aspect of communicative interactions plays a more fundamental role.
During the 1960s--despite these characterisations of the nature of information in terms of specificity--a metaphorical notion of information become fully absorbed into the vocabulary of molecular biology, whether in the context of the nucleic acids or in that of proteins. But it was not until 1977 that robust and generally applicable sequencing methods were developed, and even then the modern bioinformatics techniques of gene discovery was still years away. Although the development of information/processing by computers proceeded contemporaneously with progress in research into biological and biochemical information processing, the trajectories of these two initiatives were never unified even if they sometimes overlapped at various points.
According to Castells, such a theoretical convergence between information and genetics technological fields has now been realised (2001: 164). This is also due to the fact that modern science relies to a very large extent on computer simulations, computational models and computational analyses of large data sets (Gezelter 1999). Although genetics is considered to be a process that is entirely independent from microelectronics, is not really so independent. First, Castells argues that genetics technologies are obviously information technologies, since they are focused on the decoding and eventually reprogramming of DNA (the information code of living matter). And, more importantly, "Without massive computing power and the simulation capacity provided by advanced software, the HGP, would not have been completed--nor would scientists be able to identify specific functions and the locations of specific genes" (ibid.). In addition to this, some philosophical problems arise from the view that DNA and the Human Genome are pure informational concepts. In one sense, the convergence between the biological and computing might be thought to associated with the massive use of computer technologies in biology. But, as Holdsworth (1999) suggests, "It is not just that computer tools are rather convenient for doing genomics and protein sequencing. Rather these ... disciplines have re-organised themselves around the bioinformatics paradigm", and doing that they have absorbed Shannon's notion of information.
Two kinds of information?
Others have argued that there is an intrinsically special value in genetic information, which is said to differ either from (a) other kinds of health information, or (b) other kinds of information in general. According to Holm (1999), there is little support for the claim that genetic information has one or more special features that distinguish it from other health-related information in any morally relevant way. The idea that genetic information has a special relevance is linked to the claims of "genetic essentialism". Genetic essentialism can be expressed in the statement that "we are our genes", or as Walter Gilbert metaphorically putted it: "once we will be able to pull a CD out of one's pocket and say, 'Here's a human being: it's me!'". Genetic information would be, therefore, information about the...
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