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Moral aspects of the human genome project

The human genome has been described as the blueprint from which humans are derived. Knowledge of this blueprint is widely touted as the first step toward the prevention, diagnosis, and treatment of disease, as well as its cure.

Where knowledge of the human genome takes us will be guided by how we choose to use the information. In making this choice it is essential that the possible ethical, legal and social outcomes be discussed as fully as possible, in order that lawmakers may reach a well-informed consensus. Genes and Genomes The genome is the complete set of molecular information that encodes the instructions for making an organism.

In most organisms except some viruses the genome is made up of deoxyribonucleic acid DNA. The properties of DNA allow for the encoding of the information necessary for producing a set of proteins that defines the physiology and structure of the cells and organs that make up an organism and provides the basis for passing on this information to the next generation.

In humans, each cell, not including reproductive cells, has two copies of the complete genome, one inherited from each parent. Four different kinds of smaller molecules, referred to as nucleotides and represented by the letters G, T, C moral aspects of the human genome project A, 6 when joined together in a strand make up the larger DNA molecule.

Most DNA occurs as two DNA strands that wrap around each other to resemble a twisted ladder, whose rungs are formed by the interaction of complementary nucleotides, A always matching with T and C with G.

The human genome consists of approximately 3 billion of these nucleotide pairings, often referred to as base-pairs, in reference to the portion of the nucleotides that interact. In forming proteins, the DNA molecule is decoded as a series of three letter words called codons. Each codon is associated with one of the amino acids, which are the building blocks of proteins.

The four letters can make up 64 different three-letter words, while there are only about twenty amino acids; therefore, most amino acids have more than one codon. The series of nucleotides that contains the information associated with all the amino acids for a particular protein is called a gene; however, not all DNA encodes genes.

Ethical Issues of the Human Genome Project

The number of genes in the human genome is estimated at anywhere between 30,000 and 150,000. The making of a protein involves two steps. In the first, the DNA ladder is "unzipped. Amino acids then bind to this RNA message in the order dictated by the position of the respective three-letter codon.

It is the order of amino acids in a protein that determines what the function of the protein will be; for example, a structural component of a cell, or an enzyme involved in metabolism.

The gene does not strictly govern the final order of amino acids in a protein, as both the RNA messenger and the protein itself can be modified independently. Since each cell has the complete set of genes to make an organism, the specific nature of a cell is determined by the degree to which each gene is turned on and the degree to which the RNA and protein are subsequently modified.

The strictly complementary nature of the nucleotides of the DNA molecule also provides the means by which genetic information is passed from one generation to another. Before a new cell is formed, the DNA ladder is split and respective complementary nucleotides are added to form two molecules of DNA, identical to the first, yielding a cell with four copies of the complete genome. Shortly after this stage, the DNA is contained within the 23 pairs of microscopically visible structures known as chromosomes, after which it separates into two; the cell divides moral aspects of the human genome project yield two identical cells, each with two copies of the genome.

In sexual reproduction an additional cell division occurs, without a DNA duplication step, so that the resulting cells, either egg or sperm, have only a single copy of the genome. The fusion of an egg and a sperm once again produces a cell with two copies of the genome, one from each parent. Genes and Disease Approximately 5,000 human diseases are currently thought to have some genetic component.

Some of the fundamental causes are easy to identify. In the case of Down syndrome for instance, there is an extra copy of chromosome 21, which is visible under the light microscope. Other genetic diseases that are strongly under the control of a single gene have also been relatively easy to identify.

The Human Genome Project: A Scientific and Ethical Overview

In the case of sickle cell anaemia SCAa change in a single nucleotide of one gene alters a codon so that a different amino acid is incorporated into haemoglobin, the protein responsible for carrying oxygen in the blood.

Such a change, which is called a single nucleotide polymorphism SNPmay cause a change in an amino acid that can have a range of effects depending on where the amino acid is located in the protein and the change in amino acid. An SNP can also occur without changing the amino acid because many amino acids have more than one codon. In the case of SCA the gene is known as "recessive" because it requires two copies of the gene, one from each parent, to produce the disease in the offspring.

Ethical Issues of the Human Genome Project

If one parent donates the gene for the disease and the other does not, the child will not get the disease. As a result of strong single gene control over some diseases, close to 1,000 genes for a variety of diseases have been identified and localized to a chromosome through inheritance patterns.

The genes involved in other diseases with some genetic component, such as cancer, heart disease and mental illness, are more difficult to identify because they involve multiple genes that are also heavily influenced by environmental factors.

Potentially harmful changes in genes may not result in problems if: As more genes become involved and environmental factors come into play, the genetic disposition to a disease becomes less and less obvious, however.

Diseases that are heavily influenced by environmental factors and interaction with other genes are likely to be far more common than diseases with very strong genetic components. The Human Genome Project The Human Genome Project HGP is an international effort, coordinated by the United States Department of Energy and National Institutes of Health, that aims to determine the sequence of every nucleotide in the human genome and to identify all the genes contained within the genome.

The Human Genome Project: A Scientific and Ethical Overview

Formally started in 1990, the project was intended to complete the working reference genome by 2005 but technical advances have decreased the timeframe to 13 years. The genome itself, at six billion nucleotides long, is far too big to sequence as a whole. The initial approach was to break it into pieces, determine the order of the pieces, and then to determine the nucleotide sequence for each piece.

A private company split from the public project, however, and began sequencing DNA segments in order to patent them. This forced the HGP to change its approach to match that of the private company and to provide the nucleotide sequence of the pieces before knowing the order of the pieces.

To obtain a reference copy of the human genome that is 99.

Ethical Issues in the Human Genome Project

Various groups around the world have been working on individual chromosomes and the sequencing of these is at different stages of completion. Chromosome 21, with the exception of three gaps 30,000 nucleotides in length, has already been completed to the final standard. Unlike some other countries, such as Great Britain and Japan, Canada has had no formal national human genome program and for this reason was not included in the announcement as a partner.

Despite this, Canadian scientists have contributed to the HGP, for example through the sequencing of genes and ethics studies. One of the most significant aspects of the HGP is that it reverses the way in which science is normally done.

Usually, researchers approach a specific problem and then try to find its causes, among which might be the DNA sequence of a gene or genes. The HGP will yield the order of the nucleotides in the human genome, and identify putative genes, but will not identify their functions. It will take many years, if not decades, before the gene products are identified and many more years to understand how they interact with each other and the environment in developmental, biochemical and physiological processes.

The HGP has also involved the determination of the nucleotide sequence for moral aspects of the human genome project genomes of other organisms, many of which have been used as laboratory models and so have many well understood biochemical pathways and physiologies. Since their genomes have many similarities moral aspects of the human genome project the human genome, knowing their sequences will help to identify genes and the function of genes in the human genome.

Protein Structure Initiative One of the ways to understand the functions of genes is to understand the structure of the proteins they produce. This form of study, which is referred to as structural genomics, is a huge undertaking.

Current technology requires weeks and can cost tens of thousands of dollars to determine a single structure. Moreover, only a limited number of proteins can be examined in this way; many proteins, such as those embedded in membranes, are very difficult if not impossible to crystallize, a process necessary for the protein analysis technique of x-ray crystallography. Consequently there will be important information gaps, since many membrane-bound proteins are those targeted by drugs.

While there may be approximately 100,000 genes, there are likely several hundred thousand proteins, the result of messenger RNA and protein modification. Including plants and microorganisms, there are millions of different proteins. The National Institutes of Health is starting a Protein Structure Initiative that aims moral aspects of the human genome project understand protein structural families, structural folds, and the relation of structure and function.

Various private concerns are attempting to do the same, concentrating on what they feel are medically useful proteins. Human Epigenome Consortium In addition to knowing the genome products, it is also necessary to know when and in what tissues the genes are switched on.

One of the ways hypothesized is through the addition of a methyl group to cytidine the C nucleotide. A consortium consisting of the Sanger Centre in the U. This could prove to be a project as large as the HGP itself. The Human Genome Diversity Project The Human Genome Diversity Project is still in its planning stages but its goal is to understand the diversity and unity of the entire human species. The information should be useful in understanding human biological history, the biological relationships among different human groups, and the causes and treatments of particular human diseases.

Currently, individual scientists carry on such research but no samples of human tissue have yet been taken under the auspices of the North American Committee of the HGDP, and will not be until the program is more fully planned and ethical guarantees are in place.

Ethical issues are generally defined as those raising questions concerning what is moral or right. Legal issues are those concerning the protections that laws or regulations should provide.

Social issues are concerned with how events may affect society as a whole and individuals in society. Many of the ELS implications are not new. A test for the disease was developed soon after. As a result of the HGP, however, society as a whole will have to deal much more frequently with issues arising from knowledge of the human genome.

Moreover, the implications may be less clear in the case of genes identified for diseases that have strong environmental aspects and involve interaction with many other genes.

The Existence of Genetic Information The existence of genetic information with respect to individuals and the human population as a whole will have a profound impact on our day-to-day lives and may well change how we regard ourselves and one another.

The knowledge of predisposition to a certain disease and the ability to design "tailor made" therapies may greatly help in the treatment of disease.

Already a company in Great Britain has applied for a patent on a device that can apparently detect different forms of over 2,500 genes said to be associated with traits including behaviour and intelligence. For example, some have pointed out that science has often been co-opted as a tool to accentuate racial differences and to defend racist practices.

Given that humans are far from resolving issues of race, it is thought that information from the HGP, and such follow-up projects as the Human Genome Diversity Project, may have the potential to inflame racism in an already overly racist world. Already DNA evidence is being used as a powerful legal tool, particularly in exonerating wrongly accused individuals.

Could the database be used for other purposes than simply identifying and eliminating suspects? A DNA database could contain much more information on individuals, both guilty and innocent, than does the current system of taking fingerprints.

The Human Genome Project

On a more hypothetical note, should genes leading to a propensity for criminal activity be found, could they be used as prosecution or defence evidence in a trial? For instance, is a suspect who knows that he or she has a genetic disposition toward criminal behaviour and does nothing to avoid provoking such behaviour, guilty of a more serious crime than a suspect who is ignorant of having such a propensity?

On the other hand, could genetic disposition be used as a defence on the grounds that the crime was really the fault of the gene, not the person? Suppose a patient finds out that she has a genetic propensity for breast cancer, but neither she nor her doctor informs her relatives; would a relative who later developed that form of cancer be able to sue, on the grounds that the genetic information had not been disclosed?

Ensuring that the judge and jury in a trial are sufficiently educated to deal with these issues is yet another problem with which the legal system will have to deal. On a larger social scale, knowledge moral aspects of the human genome project the human genome could be used to emphasize the similarities among all humans. The genetic differences between people within an identified group have already been shown to be greater than the differences between groups.

In other words, people within an "ethnic" population are more different from each other than the group as a whole is different from other "ethnic" groups. On a more individual level, the results of the HGP might encourage people to view themselves as being wholly under the control of their genes. What has traditionally been viewed as the human spirit might in future be seen as limited by pre-programming at birth.