THE HUMAN GENOME PROJECT- ADVANTAGES AND CONCERN FOR SOCIAL, LEGAL AND ETHICAL IMPLICATIONS.

THE HUMAN GENOME PROJECT- ADVANTAGES AND CONCERN FOR SOCIAL, LEGAL AND ETHICAL IMPLICATIONS.
A Seminar paper, for the partial fulfillment of B.Ph degree course, submitted to the Faculty of Philosophy, under the able guidance of
Rev. Dr. Job Kozhamthadam, SJ
By
M. A. Leo Anand, SJ
R.No:06054
JDV
Faculty of Philosophy,
Ramwadi,
Pune –14
Acknowledgement
I thank God, The Almighty, for doing wonderful things in my life.
It is my great privilege to express my sincere gratitude to Fr.Job Kozhamthadam, SJ who meticulously guided me to write this seminar paper.
I also express my heartfelt thanks to my fellow companions for helping me in so many ways to make this endeavor a meaningful one.
Table of Content
Page No
Introduction
Chapter 1: Human Genome Project – An Overview
Goals
Genome and Technical details
DNA and its Uses
Chapter 2: Advantages
2.1. Treatment of Diseases
2.2. Gene Testing and Gene Therapy
2.3. Genome in Forensic Science
Chapter 3: Genethics: Need for Ethics , Morals and Philosophical Implications in HGP
3.1. Ethical Consideration for Gene Therapy
3.2. Genetic Discrimination
3.3. Racial Discrimination
3.4. Genetification of Medicine
3.5. Cultural implications
3.6. Patents
Chapter : 4. Critical Remarks and Suggestions
Chapter : 5. Philosophical Reflections and Discussion

Introduction
The Human Genome Project ranks right up there at the top of the scale of scientific advances. The opportunity to read our own instruction manual is holistic and astounding. What else in science could compete with that? This is the most important organized scientific endeavor that human kind has ever mounted. Human Genome Project has already identified many genetic abnormalities and will no doubt identify many more. New treatments and better safer treatments are likely to follow as a result. For this reason, we believe that the Human Genome Project is important scientific project of the century and probably, the most important of all time. Although it is based on the findings of many researches over many years, the efforts of the Human Genome Project have the potential for creating more good for humanity than any single scientific venture in world history.
For every good that a technology can bring to society, there is also a potential for abuse. Ethical guidelines are essential to the success of the Human Genome Project. This scientific paper gives the over all picture of Human Genome project with all its pros and cons. It not only deals with the scientific methodologies involved in the human Genome Project but also on the philosophical implication which is the mail concern. We will see in the paper how the Human Genome Project is useful in many ways and also can be misused in many ways. Although the Human Genome Project is a great achievement in Science and especially in Genetics, there is a need for Ethical, social and moral concern. Just as dynamite which was discovered in a good intention to break the rocks were eventually misused to kill people so also the Human Genome Project which was initially a knowledge seeking project, which aimed to study the genetic nature of human being later could be misused in many ways due to the unethical , immoral and anti-social elements. Any venture must uphold the human dignity and must not dehumanize. Any sort of oppressive structures in the scientific world should be counterattacked or guided by proper ethics so that every development is based on the welfare of the whole of human race. Thus we come to a critical analysis and reflection so that we can decide for ourselves and let others know what good things we can take from this and what misuses we can avoid for the welfare of the whole of humanity at large.
Chapter: 1
Human Genome Project – An Overview
The first steps in the Human Genome Project are to develop the needed technologies, then to "map" and "sequence" the genome. But in a sense, these well-publicized efforts aim only to provide the raw material for the next, longer strides. The ultimate goal is to exploit those resources for a truly profound molecular-level understanding of how we develop from embryo to adult, what makes us work, and what causes things to go wrong. The benefits to be reaped stretch the imagination. In the offing is a new era of molecular medicine characterized not by treating symptoms, but rather by looking to the deepest causes of disease. Rapid and more accurate diagnostic tests will make possible earlier treatment for countless maladies. Even more promising, insights into genetic susceptibilities to disease and to environmental insults, coupled with preventive therapies, will thwart some diseases altogether. New, highly targeted pharmaceuticals, not just for heritable diseases, but for communicable ailments as well, will attack diseases at their molecular foundations. And even gene therapy will become possible, in some cases actually "fixing" genetic errors. All of this, in addition to, a new intellectual perspective on who we are and where we came from.1
Begun formally in 1990, the U.S. Human Genome Project was a 13-year effort coordinated by the U.S. Department of Energy and the National Institutes of Health. The project originally was planned to last 15 years, but rapid technological advances accelerated the completion date to 2003. More than 1100 top level scientists from over 18 outstanding research centers spread over 6 nations, participated in this mega project.2 The project got over by 2000 due to the advanced computer technologies. Francis Collins was the director of this venture. Later in 1999 Craig Venter, an eminent scientist joined and did a super fast radical approach of short gun cloning rather than the orderly linear sequencing.
The working draft DNA sequence and the more polished 2003 version represent an enormous achievement, akin in scientific importance, some say, to developing the periodic table of elements. And, as in most major scientific advances, much work remains to realize the full potential of the accomplishment.
1.2. Goals
Project goals were to
identify all the approximately 20,000-25,000 genes in human DNA,
determine the sequences of the 3 billion chemical base pairs that make up human DNA,
store this information in databases,
improve tools for data analysis,
transfer related technologies to the private sector, and
address the ethical, legal, and social issues that may arise from the project.
To help achieve these goals, researchers also studied the genetic makeup of several nonhuman organisms. These include the common human gut bacterium Escherichia coli, the fruit fly, and the laboratory mouse. Thus these organisms could be over looked as a model organism.3
1.2. Genome and Technical Details:
A genome is all the DNA in an organism, including its genes. Genes carry information for making all the proteins required by all organisms. These proteins determine, among other things, how the organism looks, how well its body metabolizes food or fights infection, and sometimes even how it behaves. (Gupta, 2003)
DNA is made up of four similar chemicals (called bases and abbreviated A, T, C, and G) that are repeated millions or billions of times throughout a genome. The human genome, for example, has 3 billion pairs of bases.
The particular order of As, Ts, Cs, and Gs is extremely important. The order underlies all of life's diversity, even dictating whether an organism is human or another species such as yeast, rice, or fruit fly, all of which have their own genomes and are themselves the focus of genome projects. Because all organisms are related through similarities in DNA sequences, insights gained from nonhuman genomes often lead to new knowledge about human biology (Anand, 2002).
The human genome is the full complement of genetic material in a human cell. (Despite five and a half billion variations on a theme, the differences from one genome to the next are minute; hence, we hear about the human genome -- as if there were only one.) The genome, in turn, is distributed among 23 sets of chromosomes, which, in each of us, have been replicated and re-replicated since the fusion of sperm and egg that marked our conception. The source of our personal uniqueness, our full genome, is therefore preserved in each of our body's several trillion cells. At a more basic level, the genome is DNA, deoxyribonucleic acid, a natural polymer built up of repeating nucleotides, each consisting of a simple sugar, a phosphate group, and one of four nitrogenous bases. The hierarchy of structure from chromosome to nucleotide is shown in some DNA details. In the chromosomes, two DNA strands are twisted together into an entwined spiral -- the famous double helix -- held together by weak bonds between complementary bases, adenine (A) in one strand to thymine (T) in the other, and cytosine to guanine (C-G). In the language of molecular genetics, each of these linkages constitutes a base pair. All told, if we count only one of each pair of chromosomes, the human genome comprises about three billion base pairs.
The specificity of these base-pair linkages underlies all that is wonderful about DNA. First, replication becomes straightforward. Unzipping the double helix provides unambiguous templates for the synthesis of daughter molecules: One helix begets two with near-perfect fidelity. Second, by a similar template-based process, depicted in from genes to Proteins, a means is also available for producing a DNA-like messenger to the cell cytoplasm. There, this messenger RNA, the faithful complement of a particular DNA segment, directs the synthesis of a particular protein. Many subtleties are entailed in the synthesis of proteins, but in a schematic sense, the process is elegantly simple. 4
Every protein is made up of one or more polypeptide chains, each a series of (typically) several hundred molecules known as amino acids, linked by so-called peptide bonds. Remarkably, only 20 different kinds of amino acids suffice as the building blocks for all human proteins. The synthesis of a protein chain, then, is simply a matter of specifying a particular sequence of amino acids. This is the role of the messenger RNA. (The same nitrogenous bases are at work in RNA as in DNA, except that uracil takes the place of the DNA base thymine.) Each linear sequence of three bases (both in RNA and in DNA) corresponds uniquely to a single amino acid. The RNA sequence AAU thus dictates that the amino acid asparagine should be added to a polypeptide chain, GCA specifies alanine -- and so on. A segment of the chromosomal DNA that directs the synthesis of a single type of protein constitutes a single gene. The human Genome Project consists in identifying the order or the sequence of these chemical units and mapping their location in the 23 pairs of chromosomes. Etymologically the word “genome” has been created by elision of two words ‘gene (gem-) and ‘chromosome’ (-ome), meaning the complete set of chromosomes and the genes. In terms of the above analogy of the book of life, “the genome sequence is like a complex manual of genes that governs human biological functions from the moment of conception to the death”.5
How it was done:
Linear Sequencing :
All the chromosomes were mapped in 20, 000 sections. Each section was cloned. The cloned section which contains about 1, 50, 000 base pairs were blown apart by the computers . Thousands of sequencing tests aligned billions of base pairs . All the Genome was decoded and mapped section by section.6
Shortgun Sequencing :
Chromosomes were divided into sections and then separated into millions of pieces. Each piece was sequenced into base pairs and strands of DNA. Areas of overlapping DNA were matched, which formed the larger segments. All chromosomes were reassembled, mappimng the genome.7
1.3. DNA and its Uses:
Knowledge about the effects of DNA variations among individuals can lead to revolutionary new ways to diagnose, treat, and someday prevent the thousands of disorders that affect us. Besides providing clues to understanding human biology, learning about nonhuman organisms' DNA sequences can lead to an understanding of their natural capabilities that can be applied toward solving challenges in health care, agriculture, energy production, environmental remediation, and carbon sequestration. The working draft DNA sequence and the more polished 2003 version represent an enormous achievement, akin in scientific importance, some say, to developing the periodic table of elements. And, as in most major scientific advances, much work remains to realize the full potential of the accomplishment.
Early explorations into the human genome, now joined by projects on the genomes of a number of other organisms, are generating data whose volume and complex analyses are unprecedented in biology. Genomic-scale technologies will be needed to study and compare entire genomes, sets of expressed RNAs or proteins, gene families from a large number of species, variation among individuals, and the classes of gene regulatory elements. 8
Deriving meaningful knowledge from DNA sequence will define biological research through the coming decades and require the expertise and creativity of teams of biologists, chemists, engineers, and computational scientists, among others. A sampling follows of some research challenges in genetics--what we still won't know, even with the full human sequence in hand.
Gene number, exact locations, and functions
Gene regulation
DNA sequence organization
Chromosomal structure and organization
Noncoding DNA types, amount, distribution, information content, and functions
Coordination of gene expression, protein synthesis, and post-translational events
Interaction of proteins in complex molecular machines
Predicted vs. experimentally determined gene function
Evolutionary conservation among organisms
Protein conservation (structure and function)
Proteomes (total protein content and function) in organisms
Correlation of SNPs (single-base DNA variations among individuals) with health and disease
Disease-susceptibility prediction based on gene sequence variation
Genes involved in complex traits and multigene diseases
Complex systems biology including microbial consortia useful for environmental restoration
Developmental genetics, genomics
How does this ordering affect the various aspects of the life processes? What is responsible for this particular type of ordering? These questions are still a mystery and scientists are pursuing these and similar issues, but it will be a long time before satisfactory answers come.9
Chapter: 2 Advantages:
2.1. Treatment of Diseases
From the outset, one of the defining goals of the HGP has been its potential for molecular medicine. The concept is that, once the functions of genes are known and we understand the effects of malfunctioning genes, we will be able to correct the problem either through the use of designer drugs or by replacing the faulty gene. It is the latter option that has created the most controversy.
There are two routes to replacing a faulty gene. The first route, germ line therapy, has the goal of replacing a harmful gene in a fertilized human egg with a properly functioning gene that would be passed on to future generations. The other route, somatic gene therapy, aims to replace the gene in target organs or tissues of an adult, so as to fix the symptoms in that individual but not in the next generation. Germ line therapy has the more profound ethical, legal and social implications.10
As yet germ-line therapy in humans is not possible and some have argued that it will continue to be so for the foreseeable future. While this kind of therapy may be a long way off, it would bring, on the one hand, the hope of eradicating some genetic diseases but, on the other hand, the specter of eugenics.11
Genome will help to identify the problem spot even more accurately and reliably and even suggest effective remedies. A genome report can go a long way in reducing guess work in medical diagnosis and treatment. Since genomic information can identify possible problem spots, early detection and even prevention of diseases becomes possible. It becomes possible to fight diseases at the molecular level rather than at a far more complex and complicated tissue or organ level. The developments in genome may bring about a paradigm shift from a treatment-based to a prevention based medicine with immense gain both monetarily and psycho-physically. Genetic tests are used for several reasons, including
carrier screening, which involves identifying unaffected individuals who carry one copy of a gene for a disease that requires two copies for the disease to be expressed , preimplantation genetic diagnosis, prenatal diagnostic testing , newborn screening , presymptomatic testing for predicting adult-onset disorders such as Huntington's disease , presymptomatic testing for estimating the risk of developing adult-onset cancers and Alzheimer's disease , confirmational diagnosis of a symptomatic individual, forensic/identity testing.12
3.2. Gene Testing and Gene Therapy:
Gene tests are the most sophisticated tests available today which can be used for a variety of purposes including the prenatal diagnosis of the embryo for diseases , new born babies screening , diagnosis of diseases. These tests are being used not only in diagnosis of disorder but help in the prevention of serious illness in children. Gene testing naturally leads to gene therapy, which is a technique for correcting defective gene for disease development. The usual practice is to insert into the genome a normal gene in order to replace an abnormal, disease causing gene.13 Genes, who are carried on chromosomes, are the basic physical and functional units of heredity. Genes are specific sequences of bases that encode instructions on how to make proteins. Although genes get a lot of attention, it’s the proteins that perform most life functions and even make up the majority of cellular structures. When genes are altered so that the encoded proteins are unable to carry out their normal functions, genetic disorders can result. Gene therapy is a technique for correcting defective genes responsible for disease development. Researchers may use one of several approaches for correcting faulty genes:
A normal gene may be inserted into a nonspecific location within the genome to replace a nonfunctional gene. This approach is most common.
An abnormal gene could be swapped for a normal gene through homologous recombination.
The abnormal gene could be repaired through selective reverse mutation, which returns the gene to its normal function.
The regulation (the degree to which a gene is turned on or off) of a particular gene could be altered.
2.2.1 How does gene therapy work?
In most gene therapy studies, a "normal" gene is inserted into the genome to replace an "abnormal," disease-causing gene. A carrier molecule called a vector must be used to deliver the therapeutic gene to the patient's target cells. Currently, the most common vector is a virus that has been genetically altered to carry normal human DNA. Viruses have evolved a way of encapsulating and delivering their genes to human cells in a pathogenic manner. Scientists have tried to take advantage of this capability and manipulate the virus genome to remove disease-causing genes and insert therapeutic genes.
Target cells such as the patient's liver or lung cells are infected with the viral vector. The vector then unloads its genetic material containing the therapeutic human gene into the target cell. The generation of a functional protein product from the therapeutic gene restores the target cell to a normal state.
Some of the different types of viruses used as gene therapy vectors:
Retroviruses - A class of viruses that can create double-stranded DNA copies of their RNA genomes. These copies of its genome can be integrated into the chromosomes of host cells. Human immunodeficiency virus (HIV) is a retrovirus.
Adenoviruses - A class of viruses with double-stranded DNA genomes that cause respiratory, intestinal, and eye infections in humans. The virus that causes the common cold is an adenovirus.
Adeno-associated viruses - A class of small, single-stranded DNA viruses that can insert their genetic material at a specific site on chromosome 19.
Herpes simplex viruses - A class of double-stranded DNA viruses that infect a particular cell type, neurons. Herpes simplex virus type 1 is a common human pathogen that causes cold sores.
Besides virus-mediated gene-delivery systems, there are several nonviral options for gene delivery. The simplest method is the direct introduction of therapeutic DNA into target cells. This approach is limited in its application because it can be used only with certain tissues and requires large amounts of DNA.
Another nonviral approach involves the creation of an artificial lipid sphere with an aqueous core. This liposome, which carries the therapeutic DNA, is capable of passing the DNA through the target cell's membrane (Ignacimuthu, 2002).
Therapeutic DNA also can get inside target cells by chemically linking the DNA to a molecule that will bind to special cell receptors. Once bound to these receptors, the therapeutic DNA constructs are engulfed by the cell membrane and passed into the interior of the target cell. This delivery system tends to be less effective than other options.14
Researchers also are experimenting with introducing a 47th (artificial human) chromosome into target cells. This chromosome would exist autonomously alongside the standard 46 --not affecting their workings or causing any mutations. It would be a large vector capable of carrying substantial amounts of genetic code, and scientists anticipate that, because of its construction and autonomy, the body's immune systems would not attack it. A problem with this potential method is the difficulty in delivering such a large molecule to the nucleus of a target cell (Powar, 1998).
2.3. Genome in Forensic Science:
The power and accuracy of the genomic data can be used to settle paternity and immigration suits. It can be a very reliable tool for identifying the actual culprit in a complex crime, so that the guilty will be punished and the innocent acquitted.15 Identify potential suspects whose DNA may match evidence left at crime scenes
Exonerate persons wrongly accused of crimes
Identify crime and catastrophe victims
Establish paternity and other family relationships
Identify endangered and protected species as an aid to wildlife officials (could be used for prosecuting poachers)
Detect bacteria and other organisms that may pollute air, water, soil, and food
Match organ donors with recipients in transplant programs
Determine pedigree for seed or livestock breeds
Authenticate consumables such as caviar and wine
Chapter: 3: GENETHICS
3.1: Need for Ethics, Morals and Philosophical Implications:
Humans are the moral agents in this world with a capacity to think, evaluate, choose, communicate and articulate. It has been argued that the most significant issue genetic science forces on society concerns the understanding of human nature. Objectification also represents a fundamental breach of human dignity. To treat persons who are the sources of genetic material for cloning or persons who are created through cloning as mere objects, means or instruments violates the religious principle of human dignity as well as the secular principle of respect for persons.16
UNESCO drafted a declaration on human rights regarding the Human Genome Project. They want an agreement on ideas such as:
The genome shall not give profit to anyone.
Risks and benefits should be weighed before any research is begun.
Discrimination based on genetics will not be tolerated.
Genetic data will be confidential.
Results and benefits of the research will have public access; it will not be sold to the highest bidder
3.1. Ethical considerations for using gene therapy:
What is normal and what is a disability or disorder, and who decides?
Are disabilities diseases? Do they need to be cured or prevented?
Does searching for a cure demean the lives of individuals presently affected by disabilities?
Is somatic gene therapy (which is done in the adult cells of persons known to have the disease) more or less ethical than germline gene therapy (which is done in egg and sperm cells and prevents the trait from being passed on to further generations)? In cases of somatic gene therapy, the procedure may have to be repeated in future generations (Kuhse, 1999).
Preliminary attempts at gene therapy are exorbitantly expensive. Who will have access to these therapies? Who will pay for their use?
The eradication of disease through germ-line therapy might not seem, by itself, to raise many ethical questions. After all, humans have eradicated the smallpox virus from the world, why not diseases with genetic components? Do doctors not have the moral obligation to provide the very best treatment to their patients and would not the eradication of the disease be more cost effective in the long run than continually treating adults with somatic gene therapy? The main ethical problem arises in defining a "treatable" disease (Peter, 1998).
Some might say that eradication of a genetic disease for which there no treatment is and which is always fatal, should be pursued with all means possible. Others say that this would be the start of a slippery slope moving on toward the treatment of less obvious diseases and then to genetic enhancement. Some argue that if the technology is advanced in order to eradicate some diseases, it will inevitably be used by parents wishing to "enhance" their children, giving them the genes for raven black hair and blue eyes or athletic prowess. It was serious ethical concerns about genetic enhancement that prompted the Council of Europe to adopt the Convention for the Protection of Human Rights and Dignity of the Human Being with Regard to the Application of Biology and Medicine: Convention on Human Rights and Biomedicine. Article 13 of the Convention states that "an intervention seeking to modify the human genome may only be undertaken for preventive, diagnostic or therapeutic purposes and only if its aim is not to introduce any modification in the genome of any descendants." Article 11 of the UNESCO Universal Declaration on the Human Genome and Human Rights states that "practices which are contrary to human dignity, such as reproductive cloning of human beings, shall not be permitted."17 It is left to individual states; however, to define exactly what they believe these practices to be. Thus, while some countries, such as the signatories to the European Convention, may prohibit germ-line therapy, others may not. It is the existence of national differences in regulation of research on human embryos that has allowed controversial research to be performed, for example, in Singapore. Regulation has thus slowed down the progress of research but not prevented it.
Another ethical consideration with respect to germ-line therapy is defining what is normal, what is a disability, and what is a disease. Which of the genetic variations within a population ought to be eradicated, if any? In trying to eradicate a certain variation, are we demeaning those in the population who currently carry the gene?
Somatic gene therapy has its own, less controversial, set of ELS implications. These may be less ominous than eugenics but are of perhaps more immediate concern, given the more advanced state of the technology. Effectively, gene therapy involves the introduction of a properly functioning gene into target tissues in the hopes that it will be translated into a properly functioning protein, which will mask the malfunctioning protein. Often the new gene is placed into a modified virus, which is then introduced into a patient in the hope that the gene will be introduced into a tissue and properly expressed.
Such types of therapy, after much research on laboratory animals, have now reached the clinical trial stage. Unfortunately, what works for a mouse does not always work for a human being. In one highly publicized case, a patient, Jesse Gelsinger, was given an injection of a virus in the hope of introducing a protein into the liver. Mouse studies showed good absorption of the gene into the liver; however, the mouse has a much higher concentration of viral receptors on its liver cells than do humans. The virus did not absorb well into the human patient and, for still unknown reasons, created a massive immune response, causing the patient to die. The original plan for the trials had been to use the virus only on children in a coma caused by the lack of the particular liver enzyme; however, ethical and safety reviews caused the researchers to change the trial direction and use adults only. Many questions are now being asked regarding the ethics and scientific judgment of those performing such clinical trials. How well are "volunteer" patients informed of the possible risks and benefits? How objective are investigators who have equity in the companies that are funding the trials? One of the risks at this stage of gene therapy is the excessive public anticipation, created in part by some researchers, with respect to future benefits. This anticipation may turn to public distrust of science, if the benefits fail to be realized and problems such as that in the Gelsinger case continue to occur. Some clinical trials have shown positive results, and so there is still hope that somatic gene therapy will become a powerful medical tool (Kuhse,2003).
3.2. Genetic Discrimination:
One of the problems some fear might result from knowledge of the human genome is the emergence of a whole population of socially marginalized individuals, unable to obtain a job, a family, insurance, or health care and stigmatized by the rest of society. Insurance companies already insist that those identified at risk of Huntington’s disease must take a genetic test. If the results are positive, insurance is frequently refused. Insurance companies are on record as saying that if genetic information was available, they would use it in their risk assessment. In Canada, the refusal to insure a Huntington’s patient does not have dire consequences; in general, public insurance covers many aspects of care, though the level of care varies across the country and the coverage for pharmaceuticals is less clear. In countries without a public health insurance system, however, the plight of such a non-insured person can be a nightmare. Care may be available but finding it is very difficult. As more genetic tests become available, insurance is likely to be more and more expensive for those carrying what the insurance companies deem to be risky genes. The public insurance schemes may also start to feel the pressure for such genetic testing, and be forced to make policy decisions based on the funding available and the knowledge of genetic predisposition to disease within populations. Gene therapy is at the experimental stage at this point but will certainly be very expensive when it first comes into regular use. Who will pay for it? If not public insurance, will the therapy be available only to rich people, thus creating an ever widening gap between groups in society, based on both money and genetic inheritance? (Stock, 2003).
Employers may also want access to genetic information. Some genes might reveal a susceptibility to environmental damage that was incompatible with a certain workplace environment. Employers might choose to screen out workers carrying that gene rather than trying to improve the environment. Individuals with genes associated with certain behavioral traits might also be excluded from the workplace.18
3.3. Racial Discrimination:
Although no genetic-employment discrimination case has been brought before U.S. federal or state courts, in 2001 the Equal Employment Opportunity Commission (EEOC) settled the first lawsuit alleging this type of discrimination.19
EEOC filed a suit against the Burlington Northern Santa Fe (BNSF) Railroad for secretly testing its employees for a rare genetic condition that causes carpal tunnel syndrome as one of its many symptoms. BNSF claimed that the testing was a way of determining whether the high incidence of repetitive-stress injuries among its employees was work-related. Besides testing for this rare problem, company-paid doctors also were instructed to screen for several other medical conditions such as diabetes and alcoholism. BNSF employees examined by company doctors were not told that they were being genetically tested. One employee who refused testing was threatened with possible termination.
On behalf of BNSF employees, EEOC argued that the tests were unlawful under the Americans with Disabilities Act because they were not job-related, and any condition of employment based on such tests would be cause for illegal discrimination based on disability. The lawsuit was settled quickly with BNSF agreeing to everything sought by EEOC.
Besides the BNSF case, the Council for Responsible Genetics claims that hundreds of genetic-discrimination cases have been documented. In one case, genetic testing indicated that a young boy had Fragile X Syndrome, an inherited form of mental retardation. The insurance company for the boy's family dropped his health coverage, claiming the syndrome was a preexisting condition. In another case, a social worker lost her job within a week of mentioning that her mother had died of Huntington's disease and that she had a 50% chance of developing it (Tokar, 2001).
Despite claims of hundreds of genetic-discrimination incidents, an article from the January 2003 issue of the European Journal of Human Genetics reports a real need for a comprehensive investigation of these claims. The article warns that many studies rely on unverified, subjective accounts from individuals who believe they have been unfairly subjected to genetic discrimination by employers or insurance companies. Rarely are these subjective accounts assessed objectively to determine whether actions taken by employers and insurers were truly based on genetic factors or other legitimate concerns.
3.4. Genetification of Medicine:
The human genome project may be an excellent test case of Examination of the relevance of these broader considerations for the role and purpose of science in human life. Project is not only at the vanguard of modern science and exemplifies all its hallmarks; it is also the product of certain paradigmatic shifts in the perception of biology and medicine. The new paradigm shift has been called the genetification of medicine. The genetification of medicine stands for a whole cluster of changes in the concept and perception of medicine that affect most if not all its aspects, ranging from the understanding of diseases to the Doctor-patient relationship .Thus the genetification of medicine indicates a tend towards understanding and explaining human beings and human health largely in terms of genes and their interactions.20
3.5. Cultural Implications:
The cultural implications of the concept of genetification come into full view when they search for genes that may for example explain alcoholism, homosexuality, aggressive behaviour, or difficulties in learning are the cases in point. While in the past certain types of individual behaviour were interpreted as representations of individual life choices within the parameters of a given society, Genetification of Life interprets these same choices as ultimately constituted at the genetic level and expression at the biological level “beyond freedom and dignity”.21
3.6. Patents:
Patents facilitate transfer of technology to the private sector by providing exclusive rights to preserve the profit incentives of innovating firms. Patents are generally considered to be very positive. In the case of genetic patenting, it is the scope and number of claims that has generated controversy.
Chapter: 4 Critical Remarks and Suggestions
The Human Genome Project also included work on identifying and addressing the ethical, legal, and social issues that are and will be created by this new knowledge. The societal concerns identified include:
* Fairness in the use of genetic information by insurers, employers, courts, schools, adoption agencies, and the military, among others.
* Privacy and confidentiality of genetic information.
* Psychological impact and stigmatization due to an individual's genetic differences.
* Reproductive issues, including adequate informed consent for complex and potentially controversial procedures, use of genetic information in reproductive decision making, and reproductive rights.
* Clinical issues, including the education of doctors and other health service providers, patients, and the general public in genetic capabilities, scientific limitations, and social risks; and implementation of standards and quality-control measures in testing procedures.
* Uncertainties associated with gene tests for susceptibilities and complex conditions (e.g., heart disease) linked to multiple genes and gene-environment interactions.
* Conceptual and philosophical implications regarding human responsibility, free will vs. genetic determinism, aim concepts of health and disease.
* Health and environmental issues concerning genetically modified foods (GM) and microbes.
* Commercialization of products, including property rights (patents, copyrights, and trade secrets) and accessibility of data and materials. Commodification of Human beings will become a major concern as human beings would turn out to be marketing products (Tokar, 2001).
Chapter: 5. Philosophical Reflections and Discussion
Throughout the ages man has struggled with the subject of right and wrong, ethics and justice. Ethics consists of the actions an individual takes on for oneself. No matter how criminal an individual is, he will be trying, one way or another, to put ethics in on himself. The nature of the human person is the basic criterion in deciding upon ethics. Aristotle (Greek philosopher, 384-322 B.C.) also got involved with ethics. He explained unethical behavior by saying that man’s rationality became overruled by his desire. Ethics consists basically of rationality towards the highest level of survival for the individual, family, group, mankind and the environment collectively. Ethic is reason and the smartest solution to any problem is that solution which creates the greatest good for the greatest number. Any solution that falls short of this model contains weaker reasoning. Survival is not merely the barest necessities of life; it is a graduated scale with pain and death at the bottom and immortality at its top. Everyone has an infinite ability to survive. How well one accomplishes this is depended on how well one applies ethics to life. Ethical actions are survival actions. Know that the fundamental principal of existence is to survive. Evil, illness, misfortune, and decay go hand in hand, all are the fruits of one’s misdeeds!
The nature of the Human Person has to considered seriously. The technologies and scientific advancements are for the welfare of the human society. There is inequality in this world based on money, race, sex, and caste. But the underlying principle of humankind is the human nature which is uphold by many religions. Even some religions do not allow the women, children to be treated equally as men. The frame of reference of some religions, that is the scriptures, bring out inequality in seeing the same fellow human beings under the banner of the caste and out caste.
Media again projects the human being as a sexual, luxurious and dreaming being which has no relevance to the existential reality. Science, Religion and Society seem to take a different route in their journey. In this situation there has to be a common understanding of taking the human person seriously with the core importance given to the poor and the rich, the learned and the illiterate, the black and the white etc. All need to understand that they are in one cosmos and sharing the same existence. Scientism and religious fanaticism has to be dealt with some concrete ways as it misleads people to become more oppressive and dehumanizing. Goodness and advancements has to be taken as an overall welfare or affair which is a necessary one. All these years without much genetic knowledge people have been living with harmony. Hitler came to improve his race. With the advent of Human genome project, the epiphany of its misuse is already known to us. Pain and suffering has been ruling the world and humanity in so many ways. Humanity in the form of advancement is thinking newly, differently and independently for the welfare of its future. What is welfare for some becomes horror news for the others. Well wishers of humanity have to think in a more liberative way so as to bring in a constructive reality which will unify all peoples – where the dignity of human kind preserved and maintained with its utmost care.
Genetism (Reductionism/ Determinism) or Genetic Monism:
In the ancient times there was a clear demarcation of Body and Soul as separate entities which comprise the core of the human person. Later the body was considered as an unimportant or less important and the soul to the real self (Plato, St. Augustine). Later, only body was considered to the self. Now comes the era where the genes are considered to be the Total, True, Self of the human person. Genes become the Omnipotent, and omniscient entity giving rise to Genetic- God which is in human person (Tat Tvam Asi -I am That- I am my gene and Gene is God). Considering Body as the Temple of the Holy Spirit will move a step ahead with the Genes synonymous to the Sanctum Sanctorum - Holy-of- Holies. Human beings will be basically termed as only genetic beings. If everything becomes inborn and innate what will be our humanity? It will stagnate, saturated, lazy and become static instead of a plural, dynamic and a creative community. What happens to endurance, striving to become, Will to Power and all those acquired skills. Everyone will say “I am like this because of my genes; I am not like this because I don’t have that gene in me and nothing can be done about this”. Will there be a thirst to improve oneself and become some more of what we are not? Will there be any learning process? Will there be responsibility in the society or will there be only a blame game? Though the nature provides us with the genes, our nurture also plays a vital role in building up our self and personhood. What will religion do about genes? Will it connect gene with the concept of Original Sin or Karma and justify the inequality in the society? Genes are not sacro-sanct; they can Change. Human beings are end in themselves and they are not mere means.
Trans Human Species: Some scientists have proposed that there could be a trans-human species (Homo sapiens super) would emerge due to genetic manipulation which will eventually look down upon the Homo sapiens. What would be the future of the present Homo sapiens?
Conclusion
Many of the ethical, legal and social issues that are being discussed with respect to the Human Genome Project are not new. Genetic tests for a variety of diseases are currently available and some people are already struggling with the ethical and practical implications. What will change over the next few years, as a result of the Human Genome Project, is the scale of the issues and how society will have to cope with the greyer areas of genetic disease and disability. Dealing with a single gene that causes death or chronic disability is one issue; dealing with whole sets of genes whose impacts vary depending on environmental interactions is another.
The rate of scientific advancement has tended to outstrip the legislative capacity of governing bodies and there has been some media "overhype" with respect to genetic research and its potential for treatment of disease. It will be years before many of the genetic tests are available and before genetic diseases can be treated. Society as a whole must use this time to discuss and decide on how genetic information ought to be used, before the choices are made for them. It is a discussion that those with genetic dispositions to diseases such as Huntington’s have long wanted to make more public.
The Human Genome Project is a remarkable breakthrough in medical science and biological study and while there are ethical questions about the use of the information, overall, knowing the map of the human genome has allowed incredible medical breakthroughs in recent years. Processes such as genetic testing and gene therapy have created more awareness about certain inherited diseases such as cystic fibrosis and sickle cell anemia and have helped countless people alter their lifestyles so they do fall prey to diseases such as Alzheimer's or breast cancer, which are both inherited susceptibilities. While there are still moral questions to be answered, such as those addressing the issue of altering the genome of unborn children, the Human Genome Project can certainly be identified as a benefit to the world when the data is handled by the right people? Will some of these moral implications still be relevant if inherited diseases become a pandemic and threaten the world? Which would be more important, survival or morality?
If we are not part of the solution, then we are part of the problem.
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