pp. 93-95 in Human Genome Research and Society
Proceedings of the Second International Bioethics Seminar in Fukui, 20-21 March, 1992.

Editors: Norio Fujiki, M.D. & Darryl R.J. Macer, Ph.D.

Copyright 1992, Eubios Ethics Institute All commercial rights reserved. The copyrights for the employees of the US Government, are subject to other copyright arrangements. This publication may be reproduced for limited educational or academic use, however please enquire with Eubios Ethics Institute.

ELSI in human genome research

Asao Fujiyama,
National Institute of Genetics, JAPAN

I would like to talk about the Human Genome Project especially on how we should handle the information resulting from the Human Genome Project. This I hope will be the basis of the discussion on the ELSI in the Human Genome Project and its goals.

The word "genome" means a collective set of gene and other genetic information which is required to maintain the biological activities of each organism. The common material elements of the genome are four kinds of nucleotides, sometimes refereed to as bases or base pairs, which are lined up to form a strand of a DNA molecule. The actual genetic substance of the genome is DNA. The entire genetic information is stored in the DNA molecule in the form of the apparently random sequence of four nucleotides, in other words, the information is chemically coded as the primary structure of the DNA molecule. The stored information is eventually transmitted to the structures of protein molecules and other biological materials/information corresponding to the growth and developmental stage, or to respond to stimulation from the environment. The human genome contains 3 billion nucleotides (base pairs), and the number of genes is estimated to be between 50-100,000. What had been learnt up to the beginning of 1992 is summarized in Table 1.

Table 1: Features of the human genome

Estimated genome size (haploid): 3 billion
Estimated genes: 50,000-100,000
Mapped genes: 2,000
Known disease-related genes: 450
Nucleotides sequenced: 6.4 million

At present 0.2% of the human genome is sequenced. The Human Genome Project is the project to obtain the overall genetic information of an organism. However, biologically significant information must be extracted from the huge amount of raw data which will be produced from the project. This is something which biologists are not very good at yet, so the participation of the researchers from the field of informatics and computer science is essential for the progress of the program. The ultimate goal of the human genome program is to localize every gene on the DNA strands (gene mapping), to "read" the sequence of nucleotides of each gene (DNA sequencing), and finally to extract biological information from the nucleotide sequence. To achieve this goal, however, we are not intending to start sequencing the entire human genome DNA from the beginning of the program. At present, most of the efforts are concentrated on constructing genetic maps of the human genome and on developing new technology seeking for breakthroughs in structural analyses of the large DNA molecules and informatics which utilizes the latest progress in computer technology to analyze information obtained from the genome program. Several other projects, including, identifying the active parts of the genome, hunting down inheritable disease genes, analyzing the genomes of model organisms such as mouse are also included in the genome program.

The first goal of the mapping effort is to identify the position of many independent markers, that are genes as well as DNA segments, on the human genome. Thus scientists will be able to walk along the human genome using these markers as marking points in the human chromosome. The concentration of effort at the moment is focused on making a gene map. An example of a chromosome map is shown in Figure 1. The map represents human chromosome number 2, the second largest chromosome out of 23. Cancer-related genes that have been identified, for example N-myc gene, are positioned on the map. This is one step on the way to identify all genes on each chromosome.

Various types of information will be produced and released from the Human Genome Project. One considers the entire genome, such as distribution of genes, how those genes are regulated multi-dimensionally during the process of development, aging, response to the external stimulation, etc. Information on the structure and function of individual gene or specific area of the chromosome will also be produced. As the Human Genome Project advances, it is very likely that the accumulation rate of the genetic information will be very high. Since this information contains essential value for the scientists in life science field, it should be collected in the form of a database and be opened to all the scientific community. Examples of databases which are often used for the genome research are presented in Table 2. These databases are connected to computer networks and can easily be accessed internationally. In contrast to the public databases, each researcher often constructs their own databases which are used personally for specific purposes and not usually available for the public.

Figure 1: Chromosome Map of Human Chromosome 2

Table 2: Databases of genetic information

Information: Database (Location) Genetic diseases and Genes: GDB/OMIM (John Hopkin's University)

Nucleotide sequence: DDBJ (Natl. Institute of Genetics); Genbank (NIH); EMBL (EMBL)

Protein sequence: PIR, SWISS-PROT (NIH/EMBL)
The biological information which will be produced from the genome program can be categorised into several classes. The first class would be purely academic and have infinite value to the widest range of scientists in the life science field. This type of information should be kept open without restriction to the scientific community throughout the world. The second class might have strong connection with medical application, such as identifying disease-related genes, development of new diagnostic methods, and new kind of drugs, etc. The impact of the information from human genome research to the medical field will be virtually limitless. Technological transfer from the genome research will make it much easier to obtain individual's genetic information as a part of diagnosis. However, an individual's genetic information must not be opened or transferred to others. The information should be handled under strict restrictions even when it is used for medical treatment. Thus part of the second class will be concerned as the subject of ELSI activity. The information concerned with individual's rights should be protected from the time when it is compiled. National as well as international discussion as to how this should occur should be made.
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