Analysis of the Human Genome - Term Paper Example

Name” “Instructors Name” “Date of Submission” Human Genome Human genome refers to the full set of genetic content, the complete gene pool or collection of genes required for producing a human organism. The genome of home sapiens or humans comprises of 23 chromosome pairs and a 3×109 of base pairs. Genes are present in the chromosomes and are the basic functional and physical units of hereditary. They carry certain specific sequence of bases where encoded information or instruction is present about how proteins can be produced. The proteins in the genes are responsible for all the major cellular function and structure. A human organism is said to have about 30,000 genes in their DNA.DNA is found inside the nucleus of the cell and has genetic materials. (Google, Definitions of Human genome on the Web) When the genes mutation or modification occurs the proteins loose their ability for normal functioning and various genetic anomalies and disorders may arise. Medical ramification: In the field of human genome technology gene therapy presents the opportunity to rectify the defective genes and thus inhibit their ability to produce diseases. Some of the methods of rectifying a defective or faulty gene are, insertion of a normal gene into the genome, swapping the abnormal gene with a normal gene by homologous recombination, repairing of the defective gene through selective and reverse mutation and by regulation of a specific gene. Insertion of a normal gene is one of the most common methods of gene therapy. A vector is used to carry the normal gene to the target cells of the patients. These vectors or carriers are generally viral vectors like, retrovirus (HIV is a retrovirus); Adenovirus, Adeno-associated virus and Herpes simplex virus. (doegenomes.org, what is gene therapy? About the Human Genome Project Friday, November 18, 2005). Non viral method of carrying the normal genes, like an artificial lipid or DNA inserted into the target cell, can also be employed. Apart from gene therapy whose objective is mostly to treat a disease, there are several other studies in the field of human genome. (doegenomes.org ,What is gene therapy? About the Human Genome Project Friday, November 18, 2005).In the field of medicine and health care human genome technology has tremendous scope. It can be utilized for the treatment of innumerable disorder, and diseases, for the study of human biology as well as non-human organisms. Cloning refers to the creation of another individual with the identical genetic make up. Cloning of the lamb Dolly was possible by utilizing somatic cell nuclear transfer. In germ line therapy there the alterations are passed on to the progeny and hence it is different from gene therapy. Wilson argues that gene therapy can be viewed as a different method of producing and introducing protein into those individuals who are in need of it. Manufactured protein like insulin, various growth hormones and erythropoietin, need to be repeatedly introduced into the patients, making the procedure painful. (James M. Wilson,"Human Gene Therapy: Present and Future", Vol.10, No.1-2   February 1999) However several ethical and social questions arise from the possibility that cloning open. If in future it is possible to clone individuals then the implication it will have on the statue of women and men has to be addressed properly. Limitations: Gene therapy products are in their experimental stage, and there has not been any clinical evidence of its success. Hence it has not been approved by The Food and Drug Administration (FDA) for sale. Clinical trial on gene therapy was initiated in 1990. Very little progression has been noted since then. In 1999, an 18-year-old boy Jesse Gelsinger, with ornithine transcarboxylase deficiency was part of the gene therapy trial. After only four days of treatment he died from multiple organ failure considered to have been a result of severe immune response to the adenovirus carrier. In January 2003, gene therapy trials utilizing retroviral vectors in blood stem cells were permanently suspended. This was following the news of leukemia like disease developing in a child treated for immunodeficiency disease. (doegenomes.org ,What is gene therapy? About the Human Genome Project Friday, November 18, 2005).The major short comings of the gene therapy are the temporary and unstable nature of its benefit, the risk of attack of the human defense mechanism to the introduced gene, various problems associated with the carriers or viral vectors, and its inability to treat patients with multiple gene disorder. Most of the commonly occurring diseases like heart disease, Alzheimer’s dieses, diabetic’s arthritis and high blood pressure are a result of multiple gene disorder. (doegenomes.org ,What is gene therapy? About the Human Genome Project Friday, November 18, 2005). Recent Researches: However researches are currently underway to bring about revolutionary changes in the field of human genome. The University of California, Los Angeles, a research team introduces genes to the brain by utilizing liposome’s which are coated in a polymer, polyethylene glycol (PEG). This method has a potentiality for treating Parkinson's disease. (doegenomes.org ,What is gene therapy? About the Human Genome Project Friday, November 18, 2005). Through new gene therapy method errors in messenger RNA of the faulty genes can be repaired. This study may help in treatment of blood disorders like thalassaemia, certain cancers and cystic fibrosis. (doegenomes.org ,What is gene therapy? About the Human Genome Project Friday, November 18, 2005). More recently storing stem cells from the umbical code of a newly born baby for about 21 years is a possibility that, offers parents with the choice to insure their child’s health for 21 years. New cells can be generated from stem cells and utilized with 99% efficacy for the same child, with 97% efficacy for a sibling and with almost 70% efficacy for the parent. Ethical and social issues regarding human genome technology: Some of the ethical consideration hover around the definition of disease and disorder and who has the authority to decide what is normal or abnormal. There are ethical concerns about the possibility to mortifying the human rights of individuals affected by the disease in the search for a cure. There are debates about the justification for somatic gene therapy, which treatment is given to the adult cells of an individual with a disease and the ethical viability of germ line gene therapy. In germ line gene therapy the procedure is conducted to influence the egg or sperm cells and thus check the passage of a trait from the parent to the progeny. There are many social considerations that have to be evaluated carefully in the field of human genome technology. The utilization of such technology by employers to determine and evaluate the health or disease propensity of an individual employee may result in genetic discrimination and injustice at work place. The study of human genome presents the possibility of cloning as well as genetic enhancement or genetic engineering. Ethical concerns hover on the implications of altering an extremely complex normal trait. The application of even the most sophisticated scientific knowledge has not been able to comprehend fully the current structure, interaction and function of human body and genes. So it is unlikely that the repercussion of genetic modification can be fully comprehended at this stage by the scientific community. Further the boundary between genetic enhancement and prevention using genetic may become increasingly blurred, especially in the absence of a definition as to what is considered as normal in the recent times. At a certain period in future a trait produced through widespread and reputedly genetic enhancement may come to be considered as normal and the normal may be categorized as inferior or even abnormal. Further the technology for genetic enhancement or genetic engineering is exorbitant by any normal standards. Hence only affluent people will be able to afford it for themselves and their children. .( Mark S. Frankel,Audrey R. Chapman,September, Human Inheritable Genetic Modifications Assessing Scientific, Ethical, Religious,and Policy Issues,Prepared) This will raises further issues of rights, ethics, and discrimination apart from safety. The capability to remove, prevent and improve certain undesirable trait can lead to a form of eugenics. The term eugenics was used by Francis Galton in the early 20th century to describe good birth. The eugenics movement which became popular in the early 20th century sought to “weed” out those with “bad Birth” from the society. Charles Davenport, the director of the Cold Spring Harbor Laboratory, in United States was supporter of this principle. Negative eugenic supporters were concerned with discouraging the propagation of those considered to be socially inferior. ( Mark S. Frankel,Audrey R. Chapman,September, Human Inheritable Genetic Modifications Assessing Scientific, Ethical, Religious,and Policy Issues,Prepared) Nazism practiced eugenics as its state policy, and officially sanctioned the slaughtering of the people of inferior race. In the late 1920’s twenty eight states in United States passed a law making sterilization of socially undesirables (prisoners and mentally challenged people) a compulsory act, even against their will, and many restrictive policies of immigration were Proliferated. One of the ethicist concerns about biotechnological researcher on human genome is the possible threat of “soft Eugenic Principle”, where by there is a softer system for discarding those considered socially unwanted. Enhancement technologies applied in the field of human genome may contribute to distorted perception and conception of what is normal and what is abnormal. A more specific definition of what is normal may also lead to conclusions that any deviation from these normal standards is grossly abnormal. However it has been held that when human genome technology is used for prevention or cure of disease and not for enhancement its use is justified. The line between the two is often very blurred and making a distinction especially in borderline cases in extremely difficult. For example the human genome technology used for prevention of Alzheimer may also be used for memory enrichment. ( Mark S. Frankel,Audrey R. Chapman,September, Human Inheritable Genetic Modifications Assessing Scientific, Ethical, Religious,and Policy Issues,Prepared) The absence of revolutionary and positive changes in the nature of health care system is bound to affect the equality relating to access to this technology, negatively. These inequalities can stem from the lack of ubiquitous health insurance, the gap between the demand for genetic technology and supply of it, inequalities regarding the accessibility to health care, and also influence of the market factors in the development of human genome technology. Various studies have revealed that minorities are likely to be most affected by “therapeutic discrimination”. .( Mark S. Frankel,Audrey R. Chapman,September, Human Inheritable Genetic Modifications Assessing Scientific, Ethical, Religious,and Policy Issues,Prepared)Minorities have more possibility of having no basic and minimal insurance coverage and thus more probability of not having access to therapeutic procedures and treatment utilizing human genome technology. There is another possibility of discrimination emerging from genome technology, in the occupational scenario the ethical issue thus center not on the usefulness of human genome technology and knowledge but rather on the misuse of it. .( Mark S. Frankel,Audrey R. Chapman,September, Human Inheritable Genetic Modifications Assessing Scientific, Ethical, Religious,and Policy Issues,Prepared) Reproductive Rights LeRoy Walters provided two examples of the use of human genome technology which summarized the lesson that both scientists and ethicists can learn. David referred to as the bubble (1971) boy was born with severe immune deficiency. He received a bone marrow transplant but died twelve year after the procedure due to the in averted transfer of Epstein-Barr virus. He then spoke of the case of Ashanti (1986) another form of severe, immune deficiency. Her conditions did not change much after treated with a synthetic enzyme. She was the first patient who was treated with gene therapy in 1990 and since then she has been living a normal life.( LeRoy Walters,"Ethical Issues in Human Gene Therapy", Vol.10, No.1-2  ) Science has been undergoing many revolutionary changes in the field of human genome technology and new discoveries are being made each day. Safety considerations: In the current forms of somatic genetic transfer cannot be safely or reliably carried out for human germ line therapy. There is always a risk of certain accidental errors and side effects which can give rise to genetic defects. Only in those scenarios where the possibility of all other options has been exhausted for treating genetic defects can this technology be considered. A public body can be assigned to oversee the development and research even in approved projects to maintain transparency. Safety standards in the case of human trials have to be rigorously enforced. Possibility of its misuse should be guarded against. Human society is permeated by numerous prejudices, like those relating to color. Genetic enhancement may further fuel these prejudices. Appropriate justified reasons to divert public funds for research and development has to be constituted first. ( Mark S. Frankel,Audrey R. Chapman,September, Human Inheritable Genetic Modifications Assessing Scientific, Ethical, Religious,and Policy Issues,Prepared) An inverted error on the may permanently mar the genetic makeup and legacy of the child in the case of germ line gene therapy. Safety standards have to be meticulously specified and meet to ensure that no undesirable short or long term affects the treated patient. In 1984 and 1985 an interdisciplinary group prepared a document called as “The Points to Consider,". It refers to the hundred and ten questions regarding the pros and cons that investigators had to consider while considering gene therapy for a potential patient. From his eighteen years of experience in human genome technology Waters believes that Somatic cell gene therapy where by treatment of disease is done, has witnessed modest success as opposed to human genetic engineering. (LeRoy Walters,"Ethical Issues in Human Gene Therapy", Vol.10, No.1-2 ) Prenatal interventions to avert severe and irretrievable damage to fetuses and gene transfer to avert or cure neurological disease is a field that is being researcher upon. Walters notes that in the case of gene modification relating to the brain, the line between treatment and enhancement is extremely thin, and has to be carefully considered. Germ line genetic intervention for preventing or curing disabilities and disease which cannot be done through gene therapy is a possibility but, it will require significant groundwork before it can become a reality. Germ line genetic intervention used Reproductive right’s Issue: The proponents of the reproductive right school argue that parents have a right to reproductive autonomy. They have a right to choose the best possible means among those available, for a healthy baby as well as for safe and normal pregnancy. Through the development of safe and efficient genome technology parents will have the option to choose the genes of their child as well as to rule out possibility of any genetic inherited defect which may threaten their progeny. However most legal, ethical and scientific commentators view that parents cannot have an unrestrained right to influence the genes of the future by utilizing technology for this purpose. The decision to have a child is an individual choice but to decision to use technology indiscriminately and unimpeded to effect change or modification has several social and ethical repercussion and hence cannot be a parental right. .( Mark S. Frankel,Audrey R. Chapman,September, Human Inheritable Genetic Modifications Assessing Scientific, Ethical, Religious,and Policy Issues,Prepared) Every individual even those unborn have a right to the natural occurring genetic pool and hence ethicists have problems with the issue of gene line germ therapy.( Mark S. Frankel,Audrey R. Chapman,September, Human Inheritable Genetic Modifications Assessing Scientific, Ethical, Religious,and Policy Issues,Prepared)Thus the state and governmental bodies retains the authority to regulate the utilization of the technology of human genome in the interest of the larger community a well as that of the children and the voiceless descendants or the future generation. Conclusions: Human genome technology has to be take public safety first and foremost and not sacrifice it at the altar of commercial interest. Certain form of in averted disease may rise out from the utilization of this technology and hence meticulous vigil has to be maintained. There is need for transparency and adequate public involvement in the various discussions and decisions regarding it. The various social, medical, ethical and legal ramification of human genome technology has to be suitably addressed with an open and scientific mind free of prejudices. Only then can the possible advantages or disadvantages of this technology be fully realized. Reference 1. doegenomes.org , What is the Human Genome Project?, December 07, 2005 About the Human Genome Project, , Human genome Project Information, U.S. Department of Energy Office of Science, Office of Biological and Environmental Research, Human Genome program , (online)accessed on 27th July 2006, available at http://www.ornl.gov/sci/techresources/Human_Genome/project/about.shtml 2. doegenomes.org, what is gene therapy? About the Human Genome Project Friday, November 18, 2005, U.S. Department of Energy Office of Science, Office of Biological and Environmental Research, Human Genome program , (online)accessed on 27th July 2006, available at http://www.ornl.gov/sci/techresources/Human_Genome/medicine/genetherapy.shtml 3. Frankel S., Mark Chapman R Audrey., Human Inheritable Genetic Modifications Assessing Scientific, Ethical, Religious, and Policy Issues, Prepared , 2000, American Association for the Advancement of Science, (online)accessed on 27th July 2006, available at ,http://www.aaas.org/spp/sfrl/projects/germline/report.pdf#search=%22human%20ggnome%20%2B%20social%2c%20ethical%2C%20religious%2C%20medical%2C%20%22 4. Google, Definitions of Human genome on the Web, (online)accessed on 27th July 2006, available at http://www.google.co.in/search?hl=en&lr=&defl=en&q=define:Human+genome&sa=X&oi=glossary_definition&ct=title 5. Miller Paul, Analyzing Genetic Discrimination in the Workplace, Vol.12, Nos.1-2   February 2002 Wednesday, posted on October 29, 2003 ( remarks of EEOC Commissioner at the EINSHAC International Working Conversation on Enviro/Genetics Disputes and Issues in July 2001), Human Genome news doegenomes.org U.S. Department of Energy Office of Science, Office of Biological and Environmental Research, (online)accessed on 27th July 2006, available at , http://www.ornl.gov/sci/techresources/Human_Genome/publicat/hgn/v12n1/09workplace.shtml 6. Walters LeRoy,” Ethical Issues in Human Gene Therapy", Vol.10, No.1-2   February 1999, Kennedy Institute of Ethics, Georgetown University, Human Genome News Archive Edition, doegenomes.org, (online) accessed on 27th July 2006, available at http://www.ornl.gov/sci/techresources/Human_Genome/publicat/hgn/v10n1/16walter.shtml 7. Wilson M James.,” Human Gene Therapy: Present and Future", Vol.10, No.1-2   February 1999Institute for Human Gene Therapy, University of Pennsylvania, , Human Genome news, doegenomes.org U.S. Department of Energy Office of Science, Office of Biological and Environmental Research, (online)accessed on 27th July 2006, available at, http://www.ornl.gov/sci/techresources/Human_Genome/publicat/hgn/v10n1/15wilson.shtml Read More