Meaning of Human Genome Project - Essay Example

Human Genome Project (HGP) Meaning of HGP HGP entails a global scientific research project that has the main goal of illustrating the chemical base pairs sequence that forms the human DNA. HGP also aims at identifying and mapping the entire genes in the human genome, according to physical and functional aspects. HGP is the biggest international collaborative project that deals with the field of biology. The United States government initiated and funded the project. The formulation phase began in 1984, and the project implementation started in 1990, the project was officially completed in 2003 (Craig, 2007). A parallel research project was initiated by the non-government al organization referred to as Celera Genomics. The organization was officially initiated in 1998. Majority of the government initiated sequencing was done in twenty research institutions and universities in six countries; China, the United Kingdom, Germany, Japan, the United States, and France. The initial aim of the HGP was to map the nucleotides within the human haploid reference genome, which are more than 3 billion. The genome of each person is unique. Mapping the genome illustrates sequencing multiple differences of each gene. The entire human DNA was not studied within the project; certain heterochromatic areas (around 10% of entire genome) are not sequenced. Bioinformatics entails application of information technology, in the biological information management. It develops biological databases and also algorithms, to facilitate biological research. Bioinformatics is applied in human genome research that is conducted by the HGP. Bioinformatics is significant in the application of genomic data to understand several diseases. Bioinformatics is also majorly applied in identifying new molecular aspects in the drug discovery process (Victor, 2010). Legal and Ethical Issues of HGP During the initial stages of the HGP, many social, ethical and legal opinions were raised, in relation to how enhanced information of human genome, can be applied in the discrimination against individuals. A major concern in the health sector is that many employers and health insurance organizations can decline to hire people, or decline to give insurance cover to certain people, based on the health concerns illustrated through the genes of individuals. The Health insurance Portability and Accountability Act (HIPAA) safeguards against non-consensual provision of identifiable health data, to any person or entity not engaged actively in the delivery of healthcare to the patients (Craig, 2007). In addition to the identification of between 20,000 and 25,000 human genome genes, the HGP strives to solve the social, ethical and legal dilemmas, which were developed during the initial project stages. This resulted in the 1990 initiation of the Ethical, Legal and Social Implications (ELSI) organization. 5% of the United States yearly budget was given to solve or address the issues that emanate from project activities. HGP provides benefits that are significant in scientific or medicine research; however, several authors illustrate the need to solve the likely social impact of the human genome mapping. Molecularising the diseases, and also the likely cure has significance effects on what people want from medical assistance, and also the current perception of the disease by the present doctors (Victor, 2010). Response of HGP to the Concerns and Criticism Genome information interpretation is presently at the initial stages. It is expected that competent understanding of human genome can provide more avenues for advancing the fields of biotechnology and medicine. There is a program in place aimed at addressing the challenges and the issues related to the legal, social and ethical aspects of HGP. The Human Genome Project’s Ethical, Legal and Social Implications Programs periodically publish reports and also recommendations. This is in addition to funding research and conducting seminars to address the three issues affecting HGP. The effective outcomes initiated by the program have resulted in policy and law reviews in several countries to safeguard the interest of the patients, especially in the area of data confidentiality. However, several issues and challenges due to HGP are still unresolved (Craig, 2007). A key international response entails Universal Declaration on the Human Genome and Human Rights. This process was initiated by the UNESCO during the early stages of HGP. The complete declaration was adopted officially in 1997 by the UNESCO. The declaration was endorsed in 1998 by the United Nations General Assembly. The issues and implications must be addressed according to the each and every societal context (Victor, 2010). This ensures that the ethical practices and the legislations that are effectively decided, consider the frameworks and values of the society. Further public debates and also scholarly debates, are required to effectively address the issues involving HGP. Role of Medical Informatics The analysis involving genomic data is very significant in HGP and also in the development of the personalized medicine. The informatics professional in health have a significant role in the design of personal genomic data management systems, required for clinical applications. This is because the informatics professionals possess firsthand information on the effective management and dissemination of health information that are required by the healthcare providers. The professionals must ensure that the information is very confidential, and that it is given to only authorize entities. The medical informatics professionals also have adequate understanding of the workflow processes in the health sector. This enables them to adequately serve authorized stakeholders with the necessary information concerning genome and patients (Margaret, 2013). The informatics professionals greatly contribute towards the education processes of the patient. This is especially so, if the patients are required to conduct tests, and also when providing individual genomic data to the healthcare providers, for treatment and diagnostic purpose. The training and education of patents enable them to make informed consent for the tests and medical research. The health informatics professionals play the key role of patient advocate in the complex process of health diagnosis, treatment and research (Walter, 2012). The professional explain to the patients the likely benefits and also risks that are involved in genetic tests or genomic information analysis. Informatics professionals engage in cost effectiveness and efficiency analysis that is aimed at getting financing or reimbursements for the activities of genome sequencing. The analysis takes adequate consideration the economic savings and the health benefits of HGP over the long term; instead of the conventional diagnosis and treatment activities. Personalized Medicine Personalized medicine entails a medical model, which illustrates the healthcare customization. The customization involves health decisions, products and also services being tailored according to the needs of the individual patient. In the model, the diagnostic analysis is generally employed in the determination of appropriate therapies according to cellular analysis, and the context of the genetic makeup of the patient. The application of genetic information is critical in determining some issues about personalized medicine; for instance, pharmacogenomics. The term was initially applied within the genetics context; however, it is presently widely used to illustrate the entire personalization measures in healthcare. Personalized medicine is applied in the analysis of the disease risks for certain diseases, according to one or several genes (Margaret, 2013). The approach applies sequencing technology in the determination of disease risks. This enables the physician to start preventive medication, before the illustration of the disease in the patient. Personalized medicine provides several advantages. Personalized medicine provides improved diagnosis through early interventions, effective drug production, and therapies. Analyzing patients individually enables an accurate diagnosis and unique treatment plan. Genotyping entails the process of getting DNA sequence of an individual patient through biological assays. Through detailed analysis of DNA sequence of the individual, the genome is appropriately compared to the reference genome, so as to analyze the genetic variations which can explain the potential diseases (Victor, 2010). Health companies such as Navigenics, have developed genome sequencing that is Direct-to-Consumer. The individual information ensures effective disease analysis and treatment. Legal and Ethical Issues of Personalized Medicine Personalized medicine attracts several legal and ethical opinions. The present direction towards intellectual property rights, patient confidentiality, patient privacy, reimbursement policies, and regulatory oversight, has to be redefined to accommodate healthcare reviews that personalized medicine will realize. Analysis of the data that is acquired diagnostically presents challenges towards personalized medicine, and the processes of adoption. For instance, getting data through next-generation sequencing needs a computer intensive processing of data before analysis. The major issue in commercializing the personalized medicine entails patients’ protection. The main fear or consequence involves predisposing the patients after the process of genetic testing, or if some patients are illustrated as unresponsive in relation to certain treatments, especially the psychological consequences on the patients after receiving the genetic testing results (Walter, 2012). The rights and opinions of the family members who have not consented is another ethical issue. This is especially so after analyzing the inheritable risks and the genetic predispositions. Adequate consideration should also be done on the negative effects on some ethnic communities, and also the identification of the common allele. Genetic Information Nondiscrimination Act (2008) has the key responsibility of reducing fear among the patients, who take part in genetic research. This is through proving that the collected genetic data cannot be inappropriately used by the health insurers and employers. The Health Insurance Portability and Accountability Act (HIPAA) also safeguard the interests of the patients in terms of confidentiality and anonymity. Informatics Issues to be addressed within Ten Years Informatics will greatly be determined through medical devices that are freely interconnected. These interconnected medical devices will be effectively integrated in the medical and health systems. This will result into enhanced medical care and minimal medical accidents. The health sector increasingly works towards achieving the interconnectivity threshold. Health technology is moving towards superior sensors and also actuators. However, the main driver illustrates connectivity technology that has adequate capacity for opening further categories of the health devices. Despite the increasing levels of device connectivity, the medical informatics must ensure confidentiality of data and also anonymity where appropriate especially in the field of medical research. Data confidentiality is effectively ensured through giving systems passwords to only the authorized health professionals. The professionals must also be trained on the significance of maintaining patient confidentiality, and anonymity where appropriate (Walter 2012). Information technological progress has been effectively achieved through putting in place appropriate ecosystems for the medical devices that are interoperable. The Food and Drug Administration (FDA) has provided an effective mobile medical application procedure. The regulatory guidance is considered as a pathway for initiating the health informatics applications through usage of basic off-the-shelf software and hardware. There is great demand for health institutions to enhance open interfaces, to enable them easily swap equipment (Craig, 2007). The equipment swapping should, however, be effectively conducted to minimize data loss and enhance data privacy. The informatics smart devices will therefore enhance health information sharing within ten years. References Carney, Walter. (2012). "HER2/neu Status is an Important Biomarker in Guiding Personalized HER2/neu Therapy". Connection 9: 25–27. Hamburg, Margaret. (2013)."FDA Considering How to Tailor its Oversight for Next Generation Sequencing". FDA Voice. McElheny, Victor. (2010). Drawing the Map of Life: Inside the Human Genome Project. NY: SAGE Publications. Venter, Craig. (2007). A Life Decoded: My Genome: My Life. New York, New York: Viking Adult. Read More