The Human Genome Project has unravelled some interesting facts. For all the diversity of the world's 6 billion people the machinery of every human mind and body is built and run with fewer than 50,000 genes. In a material sense, then, all of the subtlety of our species, all of our art and science, is ultimately accounted for by a surprisingly small set of discrete genetic instructions. More surprising still, the differences between two unrelated individuals, between the man next door and Mozart, may reflect a mere handful of differences in their genomic recipes -- perhaps one altered word in five hundred. We are far more alike than we are different. At the same time, there is room for near-infinite variety.

The Human Genome Project (HGP) has a two-fold purpose: First, to map out the exact location of every gene on every chromosome in the human body. Second, to "sequence" the exact composition of every gene on every chromosome. Two things in particular have made this advance possible: the tremendous developments in technology and international collaboration. The computer-controlled machines performing the DNA sequencing and "super-computers" used to process the huge amounts of information involved are a major feature of the project and, increasingly, the whole of biology.
The work to obtain the genome draft over the last 10 years was the result of international cooperation between teams of scientists. It included publicly funded researchers in the United States, led by the Human Genome Research Institute at the National Institutes of Health (NIH), Washington, headed by Francis Collins. In the United Kingdom, the research was conducted at the Sanger Centre in Cambridge, funded by the Wellcome Trust and headed by John Sulston. University researchers in Germany and Japan also contributed. In 1998, Craig Venter's privately owned Celera Genomics joined in the fray, which has helped accelerated the Project by about a year and subsequently provided valuable reference for the publicly funded teams regarding verification of the gene sequences. News conferences in London and Washington on June 26, 2000 marked the virtual completion of the first rough map of the human genetic code. When scientists announced they had successfully mapped 97 per cent of the DNA sequence, world leaders declared it 'a great day in the history of the human race'

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Before we delve deeper into the discussion about the significance and implications of the HGP, let us clarify the fact that the genotype (genetic sequence) is not the sole determinant of the phenotype (actual observable expressions). Knowing the genotype does not mean that we can predict accurately the phenotype of a person, as the phenotype is the result of complicated interaction of both his/her genetic sequences and environment factors such as family background. For example, Michael Jordan may have the genetic propensity for being a good athlete, but if he were constantly undernourished and deprived of opportunities he might not have become what he is today

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As a key step in understanding the complex functioning of human cells, the HGP is part of scientific innovations that are unravelling the connection between chemistry and biology, between organic molecules and life forms. The information generated by the HGP is expected to be the source book for biomedical fields, including those such as developmental biology and neurobiology, where scientists are just beginning to understand the underlying molecular mechanisms. This project, if completed accurately may open some of the 'black boxes' of human biology

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From the HGP database, we expect to learn the underlying causes of more than 4000 genetic diseases that afflict mankind, including sickle cell anaemia, Tay-Sachs disease, Huntington disease, myotonic dystrophy, cystic fibrosis and many cancers - and thus to predict the likelihood of their occurrence in any individual, even prior to birth. Likewise, genetic information might be used to predict hyperactive sensitivities (allergies) to various industrial or environmental agents.

These possibilities offer a preview of how the Human Genome Project is likely to revolutionise medicine by opening up new approaches to prevention in the form of genetic screening. For example, the earliest beneficiaries are likely those families facing a very high risk of colon cancer. The consequences could be enormous, for as many as 1 in 200, or 1 million Americans, may carry one or the other of these altered genes. Individuals found to carry an altered gene would likely be counselled to start yearly colonoscopy at about age 30. Such examinations should help physicians detect any benign polyps, wart-like growths on the colon, early in the disease process and then remove them before they turn malignant. For others who found out that they have genetic diseases that currently cannot be cured, they can at least take measures in advance to prevent aggravation. On the other hand, those individuals who turn out not to carry the altered genes, the diagnostic test may be a huge relief, removing the fear they have lived under and sparing them the need for frequent check ups

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The bottom line in this kind of biomedical research lies in the realm of treatment. Understanding the genome could lead to the development of medical treatments tailor-made to suit individual patients. Drugs that only attack the disease and leave the rest of the body alone could also be developed. The ultimate step in that direction is gene therapy - the deliberate transplantation of genes to treat or even prevent human disease. There will be parents that are interested in knowing whether their unborn child has any genes that cause debilitating diseases and to have the ability to repair such defects.
But the initial response to this project was considerable skepticism - skepticism about the scientific community's technological wherewithal for sequencing the genome at a reasonable cost and about the value of the result, even if it could be obtained economically. Besides, this project raises profound ethical, legal and social conundrums.
Generally, we are all concerned about who owns and controls the genetic information and where will it be stored or kept. Will anyone in the general public be able to access the information of a person's genetic map? Genetic information of the type now promised is self-defining, potentially embarrassing and can easily stigmatise individuals, thus enabling others to discriminate against them on the basis of such information. One policy issue that requires urgent public attention concerns access to sensitive information collected through voluntary screening programs. In fact no information is potentially more invasive of personal privacy than tests that provide precise and inclusive knowledge of a person's genetic makeup. Therefore, individuals must be protected from unauthorised disclosure. Even when confidentiality is assured, however, maintaining the security of genetic records will be difficult

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Given the current technological developments, genetic tests will soon become as pervasive as contemporary health screening indicators. This will lead employers to screen potential employees for an array of genetic traits, e.g. susceptibility to heart disease, cancer, diabetes and alcoholism. These tests might be used to preclude that person's employment in order to reduce health care expenditures and job training investments of the company. Insurance companies, too, have a substantial stake in data obtained through these methods. Genetic tests could be used either to determine insurability, thus denying coverage to those identified as carrying the target genes, or to establish premium rates on the basis of test results. In the latter case, people who are at risk for various health-impairing conditions could be charged exorbitant premiums.
Using computers, drug companies are hoping to employ the knowledge gained about the genetic code to predict which protein a particular gene sequence produces and which drugs or diagnostic tests may be effective. Whilst this is still largely guesswork, it is what that has stimulated the millions of dollars of investment and is why biotech companies are now patenting genes and their knowledge of how the genome functions. While the raw data will be publicly available, patents on new "gene-based health care products" are entirely acceptable. This means that the widespread patenting of gene sequences and their functions will go ahead - guaranteeing the profits of the biotech companies. If the present degree of corporate intervention persists, it will ultimately result in the strangulation of all scientific inquiry. The free development of science, and with it the productive potential of society, is impossible without unimpeded access to knowledge

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So far, billions of dollars have been invested on this project, making it one of the most costly biomedical endeavours to date. Some argue that such a vast sum of money would be better off spent on smaller, more focused projects to identify the cause of just one specific disease. But given the potential benefits for so many people, it would be foolish and uncaring not to invest in the HGP. Rather, the question should be what the most appropriate level of support that should be given to competing uses for these substantial societal investments, including non-medical approaches such as improved education; reduction of poverty, crime, and unemployment; encouragement of healthier lifestyles; and safer workplaces.
The degree to which corporate business interests have muscled into genome research is indeed a disturbing feature. The consequence of this huge involvement of private finance will emerge as the soaring costs of health care. It will increase the social divide between the wealthy minority, who will be able to afford these exclusive benefits and whose lives will be extended as a result, and the vast majority of working people unable to pay for the ever increasing health care costs. There will also be an increasing gap between the rich and poor countries in the quality of life and the level of health and disease treatment. Rich countries will enjoy continual increasing life expectancy while poorer countries would likely be marginalised

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Despite the tempest this project has raised thus far, there will be no stopping the effort to sequence the human genome that has reached juggernaut proportion. This project will definitely have a defining impact of our lives, though we are still not very certain whether the advantages will outweigh the disadvantages. Sydney Brenner, an eminent British molecular biologist, once got a hearty laugh from his audience by describing how some future graduate students will define a mouse - "ATC GCC AAG GGT GTA ATA …". The next time we are asked to write about ourselves, we would probably write "ATT CGG …" and prepare LOTS of writing paper!

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By: the TzHe brothers