The Human Genome Project: Ethical Implications on Health Care Practice - Term Paper Example

The Human Genome Project: Ethical Implications on Health Care Practice Modern medicine has certainly evolved over time. The discovery of various illnesses has resulted from trends in new technologies regarding molecular biology and genetics. As new things always falling under the scrutiny of the general public, the field of genetics has also not escaped public controversies. One of the products of genetic research is the Human Genome Project. The Human Genome Project is a joint effort of the US Department of Energy and the National Institutes of Health. Founded in 1990, this organization has lead to rapid technological advances which had lead to the realization of a number of goals, which are: the identification of approximately 20,000- 25,000 genes in human DNA, determination of the sequences of 3 billion chemical base pairs which make up human DNA, storage of this information in databases, the improvement of tools for data analysis, the transfer of related technologies to the private sector and addressing ethical, legal and social issues which may arise from the project. (Wetherall, 2006) This project is centered on the genome, which is defined as the DNA in an organism. The genome contains genetic material which is passed from one generation to another. These genes determine a lot of things, such as the disease to which a person or an organism is predisposed for, the physical and metabolic make-up of the organism and even the behavior of this organism. We have studied about genes in school, and we already know that genes are made up of protein pairs, the sequences of which determine the species of a living organism. So why is it important for us to study these things? What can we benefit from all these knowledge? Let us discuss more of these in the following pages. The Implications of HGP on Health Knowledge about these DNA variations can help us find out ways to diagnose, treat and prevent illnesses which affect us. Mapping out of the human genome will have a huge impact on our approach to medicine, through the use of genotyping techniques and bioinformatics to detect polymorphisms (Chiche, 2002) We know that all disease have a genetic component. Genes are involved in the way a person responds to infection. Genes are also involved in the way the organism multiplies inside the body of the host. Genes are also involved in its virulence and infectivity. Because genes are the reasons why disease occurs in all organisms, efforts have been made to study them. We do this so that we can find out ways on how to treat, cure and diagnose these diseases. (Chiche, 2002). The Human Genome project could lead to the discovery of oncogenes, tumor suppressors and their modifiers. (Berg, 2006) The study of genes has lead to the discovery and proliferation of genetic tests. These genetic tests are done so that parents will know the status of their children health wise and thus will prepare themselves for the outcomes. As said by Gardiner (2002), “In paediatrics the dissection of the molecular basis of rare Mendelian and chromosomal disorders will continue a pace. More important perhaps, for the general paediatrician, is the prospect of understanding common early onset disorders with “complex” inheritance. These include asthma, type 1 diabetes mellitus, and the epilepsies, but also surgical abnormalities such as cleft lip and palate and pyloric stenosis, and the behavioural phenotypes of autism and attention deficit hyperactivity disorder.” It is not only in genetic testing that the study of genes proves important. The study of genes has also lead to disease intervention. Because of the discovery of genes in disease causation, scientists have designed drugs such as antibiotics and vaccines to target bacterial and viral gene structure and function to prevent illnesses from occurring among us by manipulating the sequences of specific genes for a variety of hitherto-undoable experiments (Berg, 2006) The most remarkable of the benefits of genetic knowledge is the development of gene therapy. Genetic therapy is said to be the most exciting application of DNA science. Genetic therapy holds promise in treating genetic and acquired diseases, through the use of normal genes to replace or supplement a defective gene or to bolster immunity to disease. (Loscalzo, 2008) One of the remarkable discoveries of genetic therapy is about the way it has led many of us to understanding the individual responses to medial treatments. (McPhee, 2009) We have observed why some people seem to get better despite little treatment, which some develop complications and die even though they are being treated adequately. The differences in a person’s reactions to treatment has been a baffling mystery to most scientists before, but thanks to genetic research, we now know that individual variations to treatments are result of genes. The study which blends pharmacology or the study of drugs with the study of genes (genomics) is called pharmacogenomics. One of the benefits that we have acquired from the study of pharamacogenomics is knowledge about drug reactions. It is said that more than 100, 000 people die each year from adverse effects from medications, which has been noted to be beneficial to others. The study of genomics has lead to the discovery that there is a unique system which controls the way drugs are being metabolized by the body--- the Cytochrome P450 system. The enzymes encoded by these genes are the ones responsible for metabolizing drugs that we take in. the enzymes in this system vary from person to person, and that s the reason why some people are more prone to adverse drug reactions, while others are not. (McPhee, 2009) The Human genome project is said to have many benefits. In the field of molecular medicine, it may seem to improve diagnosis of disease, detect genetic predispositions of disease, create drugs based on molecular information, use gene therapy and control systems as drugs and design custom drugs based on individual genetic properties. In the field of microbial genomics, HGP is said to bring forth rapid detection and treatment of pathogens, development of new energy sources or biofuels, monitoring on environments to detect pollutants, protection of citizens from biological and chemical warfare and cleaning-up of toxic waste safely and efficiently. (Mc Phee, 2009) In risk assessment, HGP is said to bring about evaluation of health risks faced by individuals who may be exposed to radiation and to cancer-causing chemicals and toxins. In the fields of bioarchaeology, anthropology, evolution and human migration, the HGP is said to study the evolution through germ line mutations in lineages, study the migration of different population groups based on maternal genetic inheritance, study mutations on the Y chromosome to trace lineage and migration of males and compare breakpoints in the evolution of mutations with population ages and historical events. (Mc Phee, 2009) In the field of DNA identification, the HGP is said to identify potential suspects whose DNA may match evidence left at crime scenes, exonerate persons wrongly accused of crimes, identify crime, catastrophe, and other victims, establish paternity and other family relationships, identify endangered and protected species as an aid to wildlife officials, 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 and authenticate consumables such as caviar and wine. (Mc Phee, 2009) In the field of agriculture, livestock breeding and bioprocessing, the HGP grows disease-, insect-, and drought-resistant crops, optimizes crops for bioenergy production, breeds healthier, more productive, disease-resistant farm animals, grows more nutritious produce, develops biopesticides, incorporates edible vaccines into food products, and develops new environmental cleanup uses for plants like tobacco. (Mc Phee, 2009) Ethical Considerations of the Human genome Project Along with the different benefits of the human genome project in the field of medicine and science, is also several ethical, social and legal implications of this program. One of the issues is the privacy and confidentiality of genetic information. Another issue is regarding fairness and use of genetic information by insurers, employers, courts, schools, adoption agencies, and the military. In connection with this, the Genetic Information Nondiscrimination Act (GINA) signed by President Bush prohibits U.S insurance companies and employers from discriminating on the basis of genetic tests. This was done so that Americans will be free to undergo genetic testing for gene-related illnesses such as cancer, diabetes, heart disease and other illnesses without fearing reduced insurance coverage or being fired from their job. The Human genome project also tries to eliminate bias in the diversity of genetic makeup of each individual. There should be no social stigma, psychological impact and discrimination due to genetic make-up. (Mitchell, 2003) Sankar (2008) has said that, “Despite numerous studies that demonstrate the overriding importance of racial discrimination and poverty as the major contributors to health disparities, several recent statements have suggested that genetic research holds considerable promise in the campaign against health disparities. Although genetics broadly influences nearly all aspects of health, extensive research suggests that its direct contribution to the current pattern of health disparities in the United States is secondary to social and environmental influences” The genetic make-up of a person can tells stories about his origin. This is the basis for a developing field of study called genetic anthropology. Genetic anthropology may seek answers to show how people are related to each other through common ancestry. It also seeks to answer questions regarding migration and population, culture, physical diversity and human migration patterns. Genetic anthropology may lead to the discovery of cure for genetic illnesses. However, genetic anthropology is not spared from controversies also, because there are a lot of considerations to be taken into account, such as sampling, consent, access and intellectual property, ethical impacts on sample populations, and effect on societal views of race, ethnicity and minorities. (Mitchell, 2003) There are also reproductive issues including adequate and informed consent and the use of genetic information in reproductive decision making. Genetic tests are used for carrier screening, preimplantation, prenatal diagnostic testing, newborn screening, pre symptomatic testing for predicted adult-onset disorders, conformational diagnosis of a symptomatic individual and forensic or identity testing. (Mitchell, 2003) Gene testing may be beneficial in such a way that it can clarify a diagnosis and direct a physician towards possible treatments and prevent illnesses. However, there is the risk of laboratory errors, which may be due to a lot of factors, such as sample misidentification, contamination of chemicals used for testing or other factors. Once laboratory errors occur, this can cause psychological and emotional disturbances to individuals. (Mitchell, 2003) There are also clinical issues including the education of doctors and other health-service providers, people identified with genetic conditions, and the general public; and the implementation of standards and quality-control measures. (Mitchell, 2003) We have previously discussed how gene therapy is a rapidly emerging treatment for genetic disorders, and we have elaborated on some of its benefits, however, this is now our chance to talk about its limitations. Gene therapy has been criticized by some investigators to be an ineffective treatment for genetic diseases. One reason is that gene therapy is short-lived. Gene therapy cannot permanently cure if DNA cannot be introduced directly into target cells and if they cannot remain functional for a long time and stable. The second reason is that genetic material introduced to a host can be attacked by the host’s immune system. The thirds reason is that viruses which are carriers of choice in gene therapy studies pose more harm such as toxicity and immune responses. The fourth reason is that multigene disorders such as Alzheimer’s disease, heart diseases, high blood pressure, arthritis and diabetes cannot be cured by gene therapy. (Sankar, 2008) There is also an issue regarding fairness in access to advanced genomic technologies. There are also uncertainties associated with gene tests for susceptibilities and complex conditions (e.g., heart disease, diabetes, and Alzheimers disease). There are also conceptual and philosophical implications regarding human responsibility, free will versus genetic determinism, and understanding of health and disease. (Sankar, 2008) There are also health and environmental issues concerning genetically modified (GM) foods and microbes. Genetically modified foods are foods which are a result of bioengineering. Although they show promise in solving some problems of the world like hunger and poverty, they too have their own potential risks. These risks may be related to human and environmental safety, labeling and consumer choice, intellectual property rights, ethics, food security, reduction of poverty and environmental conservation. (Waterston, 2002) Commercialization of products including property rights (patents, copyrights, and trade secrets) and accessibility of data and materials is also an issue. Conclusion: In summary, we have discussed the health implications of the Human Genome Project as well as its ethical considerations, risks and benefits. What we have learned is that although the Human Genome project was aimed towards discovering new knowledge about our origins and future perspectives, we must also take into account ethical considerations in this area. Though the Human Genome Project may be an answer to our battles against illnesses and diagnosis of genetic diseases, we must also take into account that medicine is not a perfect science. Science is a trial and error area and further discoveries should be done so that better methods in genomic research can be discovered and this may lead to answers we are desperately seeking regarding the origin of human life and the misery of our illnesses. While there is no doubt that a better understanding of the mechanisms of the human genome will play a role in helping to combat all these diseases, it is quite clear that claims that this information will produce a major change in the pattern of healthcare in the near future have been greatly overstated, largely because of the multi-layered complexity of human disease. The full benefits of the human genome project for human health will only come to fruition by the close interaction of clinical epidemiology and population genetics combined with a revitalisation of clinical research to dissect the complex interactions between the genome and environment that are responsible for the extremely complex phenotypes of all human diseases. (Wetherall, 2006) For as Greenhalg (2005) had said, “If we are to realize the promise of the Human Genome Project, we must disabuse the public—and ourselves—of the notion that whatever the medical question, genetic information will provide the answer, and we must refocus the activity of geneticists on the minority of diseases for which the appropriate unit of analysis is the base pair.” Works Cited: 1. Berg, Paul. Origins of the Human Genome Project: Why Sequence the Human Genome When 96% of It Is Junk? Am J Hum Genet. 2006 October; 79(4): 603–605. (Journal) 2. Chiche, Jean-Daniel, Cariou Alain, and Mira Jean-Pau. Bench-to-bedside review: Fulfilling promises of the Human Genome Project Crit Care. 2002; 6(3): 212–215. (Journal) 3. Gardiner R. The Human Genome Project: the next decade Arch Dis Child. 2002 June; 86(6): 389–391. (Journal) 4. Greenhalgh, Trisha. The Human Genome Project Soc Med. 2005 December; 98(12): 545. (Journal) 5. Loscalzo, Joseph; Fauci, Anthony S.; Braunwald, Eugene; Dennis L. Kasper; Hauser, Stephen L; Longo, Dan L. Harrisons Principles of Internal Medicine, 17th Edition, McGraw-Hill Professional, 2008 (Book) 6. McPhee, Stephen J. Papadakis, Maxine A CURRENT Medical Diagnosis & Treatment. McGrawHill, 2009. (Book) 7. Mitchell, Joyce A. and McCray, Alexa T. The Genetics Home Reference: A New NLM Consumer Health Resource AMIA Annu Symp Proc. 2003; 2003: 936. (Journal) 8. Sankar, Pamela, Cho, Mildred K., et al. Genetic Research and Health Disparities JAMA. 2008 March 24. (Journal) 9. Waterston, Robert H., Lander, Eric S., and Sulston, John E. On the sequencing of the human genome Proc Natl Acad Sci U S A. 2002 March 19; 99(6): 3712–3716. (Journal) 10. Weatherall, David J. Genomics and world health: hopes and realities. Zhejiang Univ Sci B. 2006 February; 7(2): 161. (Journal) APPENDIX 1. Berg, Paul. Origins of the Human Genome Project: Why Sequence the Human Genome When 96% of It Is Junk? Am J Hum Genet. 2006 October; 79(4): 603–605. (Journal from NCBI/ NLM)   I was not much involved in the discussion and debate about initiating a program to determine the base-pair sequence of the human genome, until the idea surfaced publicly. As I recall the genesis of the Human Genome Project, the idea for sequencing the human genome was initiated independently and nearly simultaneously by Robert Sinsheimer, then Chancellor of the University of California–Santa Cruz (UCSC), and Charles DeLisi of the United States Department of Energy. Each had his own purpose in promoting such an audacious undertaking, but the goals of their ambitious plans are best left for them to tell. The proposal was initially aired at a meeting of a small group of scientists convened by Sinsheimer at UCSC in May 1985 and received the backing of those who attended. I became aware of the project through an editorial or op-ed–style piece by Renato Dulbecco in Science, March 1986. Dulbecco’s enthusiasm for the project was based on his conviction that only by having the complete human genome sequence could we hope to identify the many oncogenes, tumor suppressors, and their modifiers. Although that particular goal seemed problematic, I was enthusiastic about the likelihood that the sequence would reveal important organizational, structural, and functional features of mammalian genes. That conviction stemmed from having seen, firsthand, the tremendous advantages of knowing the sequence of SV40 (in 1978) and adenovirus genomic DNAs (in 1979–1980), particularly for deciphering their biological properties. In each of these instances, as well as for the longer and more complex genomic DNAs of the herpes virus and cytomegalovirus, knowing the sequences was critical for accurately mapping their mRNAs, identifying the introns, and making pretty good guesses about the transcriptional regulatory elements. Even more significant was the ability to engineer precisely targeted modifications to their genomes (e.g., base changes, deletions and additions, sequence rearrangements, and substitutions of defined segments with nonviral DNA). One could easily imagine that knowing the human DNA sequence would enable us to manipulate the sequences of specific genes for a variety of hitherto-undoable experiments. Aware of the upcoming 1986 Cold Spring Harbor (CSH) Symposium on the “Molecular Biology of Homo sapiens,” I suggested to Jim Watson that it might be interesting to convene a small group of interested people to discuss the proposal’s feasibility. I thought that such a rump session might attract people who would be engaged by the proposal, and Watson agreed to set aside some time during the first free afternoon. As the attendees assembled, it was clear that the project was on the minds of many, and almost everyone who attended the symposium showed up for the session at the newly dedicated Grace Auditorium. Wally Gilbert and I were assigned the task of guiding the discussion. Needless to say, what followed was highly contentious; the reactions ranged from outrage to moderate enthusiasm—the former outnumbering the latter by about five to one. Gilbert began the discussion by outlining his favored approach: fragment the entire genome’s DNA into a collection of overlapping fragments, clone the individual fragments, sequence the cloned segments with the then-existing sequencing technology, and assemble their original order with appropriate computer software. In his most self-assured manner, Gilbert estimated that such a project could be completed in ∼10–20 years at a net cost of ∼$1 per base, or ∼$3 billion. Even before he finished, one could hear the rumblings of discontent and the audience’s gathering outrage. It was not just his matter-of-fact manner and self-assurance about his projections that got the discussion off on the wrong foot, for there was also the rumor (which may well have been planted by Gilbert) that a company he was contemplating starting would undertake the project on its own, copyright the sequence, and market its content to interested parties. One could sense the fury of many in the audience, and there was a rush to speak out in protest. Among the more vociferous comments, three points stood out: 1. The cost of doing this project would diminish federal funding for individual investigator–initiated science and thereby would shift the culture of basic biological research from “Little Science” to “Big Science.” Some feared that biology would experience the same consequence that physics did when massive projects like the Stanford Linear Accelerator Center were undertaken in that field. 2. Many thought that Gilbert’s approach was boring and thus would not attract well-experienced people, which, most likely, would make the product suspect. Moreover, the benefits of the sequence project might not materialize until the very late stages. 3.  A surprisingly vocal group argued that, because Read More