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Introduction
Bioinformatics is a new scientific field that is believed to present new opportunities capable of transforming medical practice. The science is associated with the completion and analysis of biological data such as genetic makeup and deoxyribonucleic acid acids (DNAs) (Alzubu, Zhou, & Watzlaf, 2014, p. 2). This process relies on the combination of different fields, such as engineering, computer science, and mathematics. New developments in bioinformatics have led to big data in the field of medicine. The data is still being mined, archived, and analyzed in order to make it useful in different fields such as healthcare. This process of data analysis is currently known as the human genome project (HGP). The purpose of this paper is to discuss the unique issues and concerns surrounding the human genome project.
The Human Genome Project
The human genome project (HGP) is a study or program aimed at understanding the genetic and hereditary constitutions that make people unique ( National Human Genome Research Institute, 2017). Although the project was completed in the year 2003, the most agreeable fact is that the process of data analysis and sequencing will continue for many years. The project would be used to map and identify the genetic aspects of the human genome. By so doing, scientists are planning to use the project to create a database of information about the unique functional and structural aspects of human DNA.
The HGP has a number of goals that are expected to transform the field of medicine. The first goal is to have a detailed sequence of the DNA pairs that are known to form the human genome ( National Human Genome Research Institute, 2017). Scientists have argued that human genes are categorized into around 20,000 types. The project will guide scientists to identify and map these genetic types. The other goal is to ensure the genomes of every beneficial organism in health research across the world are sequenced. The other equally important objective is coming up with new tools to analyze this big data and ensure the information is available to more people in the medical field.
The other agreeable fact is the HGP is a useful project that is expected to support the evolution of bioinformatics. For very many decades, DNA sequencing has been embraced by scientists to understand the development and nature of various diseases. The HGP can, therefore, be treated as an agenda that seeks to support the future of molecular biology (Alzubu et al., 2014). Genetic information will be analyzed and sequenced in order to understand how various diseases develop. Medical researchers will also use the information obtained from the HGP project to come up with new solutions and treatment processes for various hereditary diseases. It is, therefore agreeable that the HGP will continue to support the evolution of human bioinformatics.
Legal and Ethical Issue
The HGP has the potential to transform the manner in which health services are delivered to different communities ( National Human Genome Research Institute, 2017). Unfortunately, the HGP has been characterized by a wide range of ethical, social, and legal issues from the very beginning. The acknowledgment of these ethical and legal issues is something that led to the formation of the Ethical, Legal, and Social Implications (ELSI) program. The HGP website exposes a number of issues that must be taken seriously in order to ensure more people benefit from the program. The major ethical and legal concern that should be discussed further revolves around fairness and privacy regarding the use of genetic data.
The reason why this ethical and legal issue is selected is that the collection of DNA information will ensure more people are aware of the major genome types. This knowledge will present new information regarding the behavior, risks, and strengths of specific genetic types. Individuals with specific genomes will be identified during the treatment process (Alzubu et al., 2014). People who are at risk of various diseases will receive adequate medical support in a timely manner. However, the use of this genetic information is something that has the potential to breach the ideals of fairness or privacy.
The selected ethical and legal issue is of high importance because it will significantly dictate the future of healthcare practice. It is agreeable that many people are at risk of certain hereditary diseases (Alzubu et al., 2014). Throughout the healthcare delivery process, medical workers will be focusing on the genome types of their patients in order to ensure evidence-based care is available to them. Unfortunately, many players have been observed to dictate the future of the global healthcare sector. Insurance companies and employers have been required to support the health outcomes of more citizens ( National Human Genome Research Institute, 2017). The availability of genetic information will definitely dictate the processes used by employers to hire new workers. Employers might avoid hiring individuals who have specific genetic or hereditary conditions. Insurance companies might be unfair when it comes to the provision of health covers (Alzubu et al., 2014).
Unless positive measures are put in place, more people will be affected by the issues surrounding the HGP. Human rights in many sovereign states have their civil rights and freedoms. The use of DNA information can expose such individuals to discrimination or unfair treatment. The parallel ELSI program should, therefore, be aware of this legal issue (Alzubu et al., 2014). The pioneers of the program should be ready to identify the possibilities of genetic discrimination in an attempt to safeguard the rights of more people in the world.
Numerous concerns surrounding this ethical issue have emerged within the past decade. To begin with, human rights activists have argued that HGP should not have been executed because it will eventually affect the integrity expected in the healthcare sector. Companies relying on the use of bioinformatics will come up with new measures that can treat different people unfairly. It is agreeable that some racial groups are predisposed to specific hereditary conditions. The completion of the HGP will identify the specifics regarding this kind of problem (Cordeiro, 2014). The new knowledge has increased the chances of promoting discrimination across the globe. That being the case, there is a need for the pioneers and scientists behind the human genome project to identify adequate measures to ensure this issue does not affect the welfare of more people in different parts of the world.
Solutions and Responses Presented by the HGP
After conducting its research, the ELSI program has identified a number of issues that can be considered in order to deal with the legal and ethical challenges arising from the HGP (Alzubu et al., 2014). To begin with, the program has acknowledged that the collected genetic information can be used unfairly by many players in the healthcare sector and eventually affect the outcomes of many citizens. This is a major challenge because the HGP appears to present numerous opportunities that can improve the healthcare sector.
The ELSI program has gone further to identify new strategies that have the potential to deal with the emerging ethical and legal issues. For instance, many analysts have focused on the concept of moral neutrality in order to deal with the problem. It is agreeable that the use of scientific knowledge can be done in an ethical manner. This means that doctors and players in the sector can use the collected information in a positive manner. Professionals in the sector should avoid any form of discrimination.
The program has gone further to identify new areas that can result in unethical use of genetic information. For instance, genetic testing and cloning are some of the initiatives capable of affecting the integrity of the HGP (Alzubu et al., 2014). This challenge, according to the HGP website, can be addressed using powerful international laws. Such laws will dictate the manner in which genomic information is used to support the health needs of the affected individuals.
Whenever providing medical care to a patient, different players should be aware of his or her cultural beliefs and religious values. By so doing, the practitioners will be in a position to use the patients genetic information in an ethical manner. The leaders behind the project have stated clearly that genetic information should only be used in a proper manner without any form of discrimination. Insurance companies that deny coverage to people who are predisposed to specific conditions should have their licenses revoked (Rhodes, 2016). The other option that has been identified by the project is ensuring that different employers and insurance firms do not have access to peoples genetic data.
The other suggestion is strengthening the rights of patients and citizens (Rhodes, 2016). New laws should be introduced and implemented in order to ensure third party agencies do not have access to peoples genomic data. The information of persons at risk should only be presented to healthcare professionals (Alzubu et al., 2014). This approach will ensure the genetic information is used adequately to meet the health needs of the targeted patients.
Experts behind the HGP have gone further to identify new concerns that have the potential to worsen the situation. For instance, chances are high that more companies will find ways to access clients private genetic information. The firms will go further to engage in discriminatory practices and eventually affect the welfare of more people. It is also agreeable that new challenges might emerge in the future. It will therefore be appropriate for different players to identify new strategies to deal with the ethical and legal concerns.
The Role of Medical Informatics Professionals
Medical informatics professionals stand a chance to benefit from the human genome project. The acquired information from the HGP will pave way for new discoveries that can help human beings understand their body functions and behaviors much better (Cordeiro, 2014, p. 165). These new discoveries will guide more professionals to come up with better practices to improve peoples health. These opportunities should not be ignored because of the ethical and legal concerns surrounding the HGP project. Medical informatics professionals should identify new strategies and practices in order to address these concerns.
These professionals should dictate the manner in which the information obtained from the HGP is used to guide evidence-based medical practice. The first role of these professionals is using genetic information in an ethical manner (Rhodes, 2016). They should only get the patients genetic data when the health situation worsens. The approach will ensure the best treatment approach is available to the patient based on his or her genetic constitution.
They should go further to promote the best standards of health practice. This means that the health informatics professionals will not share the information of their patients with third party users such as insurance companies, businesspeople, and employers (Rhodes, 2016). The approach will minimize chances of discrimination and support the health needs of more underserved populations.
The medical informatics professionals should go further to educate more people about the importance of ethical handling of genetic data. These campaigns can empower more practitioners and guide them to use genetic information in a professional manner. This discussion shows clearly that medical informatics professionals can set a new pace regarding the use of genetic information (Cordeiro, 2014). The approach will ensure more people benefit from the use of medical informatics.
Personalized Medicine
Human genomes have indicated that people can be categorized depending on their genetic types (Dorfman, Khayat, Sieminowski, Golden, & Lyons, 2013). Professionals in healthcare have realized that human beings can be separated into various groups based on this information. Individuals in a specific group tend to have similar health requirements and responses to specific illnesses. Some people are exposed to various diseases because of their genetic constitutions. Personalized medicine has therefore emerged as a field in healthcare that focuses on individualized decisions, health interventions, and practices tailored to support the needs of the targeted patient.
The idea of personalized medicine is something that has improved the manner in which health services are delivered to different patients. Many experts believe strongly that the use of personalized medicine has the potential to address most of the health problems affecting many people across the globe (Rhodes, 2016). The HGP is therefore supported by many professionals because it continues to inform the personalized medicine approach.
Personalized medicine is an evidence-based healthcare approach that can be applied differently in an attempt to meet the needs of many underserved populations. The first application of personalized medicine revolves around the prevention of various diseases (Dorfman et al., 2013). The analysis of a persons genetic information makes it easier for health professionals to identify the risk factors to specific diseases. When such factors are identified, appropriate preventive measures will be presented in order to deal with the illness or condition.
The second application of personalized medicine is pharmacogenomics (Dorfman et al., 2013). This practice uses a persons genome to ensure the drugs prescribed are tailored to meet his or her health needs. It is agreeable that people do not have similar responses to various drugs. That being the case, the field of pharmacogenomics empowers pharmaceutical companies to produce new drugs that target specific people. The practice will eventually transform the nature of healthcare delivery.
Drug development is a field that is benefiting significantly from the idea of personalized medicine. The knowledge of peoples genetic constitution is something that can guide pharmaceutical whenever manufacturing new drugs (Rhodes, 2016). This practice will ensure minimal expenses are incurred whenever producing new drugs. The practice will eventually transform the healthcare sector.
The other application of this kind of medicine is cancer genomics (Dorfman et al., 2013). Cancer remains one of the major health challenges affecting many populations in different corners of the world. Past research findings have indicated that the progression of cancer is influenced by human genetics. It is also agreeable that different people will be affected differently by cancer. Application of personalized medicine in cancer genomics is something that will help informatics professionals come up with new drugs to deal with this population (Rhodes, 2016). Such initiatives will support the idea of drug therapy. These applications will eventually address most of the health problems affecting humanity.
Legal and Ethical Issues for Personalized Medicine
The idea of personalized medicine is very promising and is expected to transform the healthcare industry. However, the field has led to numerous ethical and legal issues that should be addressed. In the recent past, personalized medicine has been embraced in an attempt to support the health needs of more patients. Professionals have indicated that personalized medicine is capable of affecting patients negatively. The issue of confidentiality has emerged. Individuals who have high risks of developing specific diseases might be discriminated by their employers or insurance providers (Cordeiro, 2014). The idea of personalized medicine can affect the privacy of patients family members and relatives. This is the case because relatives tend to have similar genetic constitutions.
Chances are high that the application of personalized medicine in healthcare can result in misuse of confidential genetic information (Cordeiro, 2014). The Health Insurance Portability and Accountability Act (HIPAA) is a regulation aimed at protecting patients from any form of discrimination arising from the use of genetic information. The role of this law is to ensure genetic information is used adequately to ensure the targeted patients receive personalized medical support. The HIPAA Act is also characterized by gaps that expose many people to discrimination or misuse of their genetic data.
These interoperability and standards have unique gaps that must be addressed. Before adopting the use of personalized medicine, it will be appropriate to address the gaps in the HIPAA Act. This is the case because the current standards are characterized by numerous challenges. For instance, the regulatory requirements in place today might affect the successful use of personalized medicine. The current legal protections are inadequate and incapable of dealing with discrimination based on a persons genetic constitution (Cordeiro, 2014). The current information systems used in healthcare do not empower physicians to use personalized medicine adequately.
Informatics Issues to Address in the Next Ten Years
The use of informatics is something that can support the changing health needs of many populations. Unfortunately, there are numerous issues surrounding the use of genetic information in healthcare. Scientists and professionals will have to consider the issues presented below within the next ten years. The first one is identifying new strategies to manage complex data sets (Rhodes, 2016, p. 162). The overwhelming volumes of data from the HGP might be irrelevant unless improved information management systems are developed.
The second issue is producing powerful software systems to support the continued use of genetic informatics. The ownership of the acquired personal data is something that has to be addressed. It will be necessary to come up with powerful laws to ensure the collected information is owned by the individual in order to minimize chances of discrimination. New laws empowering the government to protect its citizens from employers and insurance companies must be implemented within the next ten years (Cordeiro, 2014). These measures will ensure the HGP project supports the changing health needs of many populations.
References
Alzubu, A., Zhou, L., & Watzlaf, V. (2014). Personal genomic information management and personalized medicine: Challenges, current solutions, and roles of him professionals. Perspectives on Health Informatics and Management, 11(1), 1-14.
Cordeiro, J. (2014). Ethical and legal challenges of personalized medicine: Paradigmatic examples of research, prevention, diagnosis and treatment. Revista Portuguesa de Saude Publica, 32(2), 164-180.
Dorfman, R., Khayat, Z., Sieminowski, T., Golden, B., & Lyons, R. (2013). Application of personalized medicine to chronic disease: A feasibility assessment. Clinical and Translational Medicine, 2(16), 1-23.
National Human Genome Research Institute. (2017). All about the Human Genome Project (HGP). Web.
Rhodes, R. (2016). Ethical issues in microbiome research and medicine. BMC Medicine, 14(1), 156-168.
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