Keywords Genetics

GoalsAlthough the formal goal is to describe the sequence of nucleotides in the total length of DNA in the nucleus of a human cell, genes themselves are in fact very sparsely scattered within the DNA strand. Some of the DNA helps genes function, but most of it is of unknown function, and much of it may not even be biologically useful ("junk DNA"). Investigation of the sequence of the genomes of other organisms, in particular mice, flies, worms and yeast, is an ongoing part of the project, to provide comparisons to the human sequence. Many genes have been conserved through hundreds of millions of years of evolution, and it is easier to study genes in animal models that are analogous to those in humans.

Genes and DiseaseGenes related to particular diseases are being identified at an increasingly rapid pace, and it is clear the project will greatly increase our knowledge of how to identify and manipulate genes. Several thousand diseases are caused by single faulty genes, but each of these is quite rare, so together they account for only a very small percentage of disease in populations. However, researchers hope the project will provide insights not only into single-gene disorders, but also into more frequent, complexly determined diseases, such as cancer and heart disease. In order to tease out the complex relationship between genes and the environment, a number of very large population-based studies have been started, including a project in Iceland that involves the collection and analysis of almost the entire population's DNA. Similarly, in the UK a large project called BioBank will involve the collection of DNA from 500 000 citizens.

Individuals possessing certain genes are more likely to become ill with certain diseases because of influences in their environment, eg, diet, lifestyle or chemical exposure. Researchers hope that the identification of such "susceptibility" genes associated with common diseases will allow them to tailor preventive strategies, such as change in diet or lifestyle, so that the genetic susceptibility is never expressed. Identifying people with susceptibilities may lead to better health for those identified, but it may also lead to stigmatization, to lack of access to insured health care in some countries, and to the creation of a class of individuals who are anxious about their health. Focus on genetic determinants of disease also diverts attention from social and environmental causes which may be equally or more important, as in the connection between smoking and lung cancer.

Commercial InterestsGenes give instructions to make many molecules, such as hormones, that are essential to body functions. Biotechnology companies hope to use the understanding of this process to make therapeutic molecules for the treatment of common diseases. As a result of the tremendous scientific advances that have occurred in areas such as genetics, biotechnology has emerged as one of the fastest growing sectors of many countries' economy. However, there is concern that if dissemination and exploitation of knowledge from the Human Genome Project is left largely to commercial firms, there will be less likelihood of wide benefits, as such a course is likely to lead to inequitable access (not all people will have the ability to pay). In addition, strong marketing would make premature and inappropriate use more probable and may add unnecessary costs to the health care system.

Social, Legal and Ethical ConcernsMany ethical dilemmas are raised by the fact that gene identification will be possible in most cases well before any useful therapy is available. The ability to identify aspects of an individual's genome also raises important questions of privacy, confidentiality and autonomy. What rights, if any, do others (relatives, employers, insurers) have to such genetic information? Will a distinction be made between using genetic technologies for therapeutic purposes and using them to enhance an individual's characteristics? Will the way we view ourselves, and how we define normality/abnormality, change? Because of these and other questions, the study of the legal, ethical and social issues remains an important part of the overall research agenda in most countries involved with the Human Genome Project.

Genome
The genome is an organism’s complete set of DNA. In the human genome, which is estimated to contain 25 000 genes, DNA is arranged into 24 distinct chromosomes (courtesy U.S. Department of Energy, Genome Management Information System).

Author PATRICIA A. BAIRD Revised: TIM CAULFIELD

Suggested Reading
E. Pennisi, "Reaching Their Goal Early" 300 Science 409 (2003) and "A History of the Human Genome Project") 291 Science (2001); W. Bodmer and W. McKie, The Book of Man. The Human Genome Project and the Quest to Discover our Genetic Heritage (1995); J.D. Watson, "The Human Genome Project: Past, Present and Future," Science (1990); N. Wexler, "Clairvoyance and Caution: Repercussions from the Human Genome Project," in eds, D.J. Kevles and L. Hood, The Code of Codes (1992).

Links to Other Sites
The GEEE! in GENOME
This website focuses on the field of genomics, which is the study of genes and their functions. Learn about Canadian research involving the mapping of the human genome and its implications for public health, agriculture, and environmental conservation.

Genome Canada
Learn about the science and applications of human genome research in this Genome Canada website.

BioethicsWeb
An extensive international catalogue of websites that concern ethical, legal, environmental, and economic implications of recent advances in applied genetics and biotechnology. Produced by the Wellcome Library for the History and Understanding of Medicine at the Wellcome Trust, United Kingdom.

What are stem cells?
A great resource for technical and non-technical articles about the science of stem cells. Covers breakthroughs, potential benefits, sources of stem cells for research, and related ethical issues. From Canada’s Stem Cell Network.

Glossary: Biotechnology
This glossary was developed to help you understand the terms used in the field of biotechnology. From the website for Health Canada.

genomics.energy.gov
An extensive multimedia information source about basic genetic research and related applications in medicine, energy production, and the environment. Features educational resources for students and their teachers. From the website for the Office of Biological & Environmental Research.