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The Human Genome Project and Health Care Standards, Coursework Example

Pages: 9

Words: 2597

Coursework

Introduction: History and Goals

The evolution and growth of the Human Genome Project has raised many unique and somewhat difficult questions regarding the role of genetics in health and disease. This project, which began in 1990, is a collaboration between the US Department of Energy and the National Institutes of Health in order to identify the entire set of genes in human DNA and the sequences of base pairs that comprise DNA; these efforts were conducted in order to improve data analysis, database management, technology transfer, and legal/ethical concerns related to the project (US Department of Energy, 2013). This project is designed to advance a number of critical goals and objectives that will have a significant impact on potential research and health outcomes for millions of people and will emphasize the importance of the human genome in understanding the causes of human disease and the many complications associated with human health. The following discussion will address the human genome project in greater detail and will emphasize the importance of expanding research in this area and in supporting a framework that embodies technology transfer and other conditions that will have a lasting impact on outcomes for health and wellbeing. Therefore, the primary goals and objectives of the human genome project represent a means of developing new discoveries to support database generation and enhance the quality of data that is derived regarding human genetics so that research endeavors and other areas may largely benefit from the opportunities that are available to study the human genome more closely and to utilize the data that is generated to improve outcomes for millions of people.

Scope of the Human Genome Project

The genetic makeup of human beings and how diseases form is highly complex and multifaceted on many levels; therefore, it must be addressed in the context of understanding the human genome to support research to fight and prevent disease. It is known that this project aims to provide the following benefits: “Technology and resources promoted by the Human Genome Project are starting to have profound impacts on biomedical research and promise to revolutionize the wider spectrum of biological research and clinical medicine. Increasingly detailed genome maps have aided researchers seeking genes associated with dozens of genetic conditions, including myotonic dystrophy, fragile X syndrome, neurofibromatosis types 1 and 2, inherited colon cancer, Alzheimer’s disease, and familial breast cancer” (US Department of Energy, 2013). Under these conditions, it is important to recognize the value of genetic research in understanding many areas of health and disease that impact many people throughout the world. This process requires a vast effort from a variety of areas that will have a lasting impact on human health and research discoveries for the foreseeable future. These efforts are instrumental in determining the best possible approaches to improve human health on many levels. The human genome project has begun to have a significant impact on the administration of direct patient care and on the creation of new ideas to accomplish the intended objectives in genetic research and new discoveries. It is critical to explore the human genome as a means of addressing significant challenges that healthcare providers face as they work with patients who face a variety of risks, including diseases without a cure. These factors support the continued growth and development of this project to meet established goals and timelines to ensure that the human genome is on the appropriate path to further discovery and implementation in healthcare practices throughout the world.

The human genome has a significant impact on human health in many different ways and represents a means of understanding the scope of the practice environment and its influence on patient care. For example, the Centers for Disease Control and Prevention (2014) provides information on their website regarding a host of issues related to human genomics, such as infectious diseases. These practices reflect the importance of developing strategies for growth that will have a significant impact on patient care and related outcomes, particularly with the continued urgency associated with infectious agents and diseases throughout the world (CDC, 2014). In this context, researchers and clinicians must be aware of the risks associated with the human genome and how to address infectious diseases, but to also recognize the advantages that are available that have a significant impact on patient care outcomes (CDC, 2014). For a deadly disease such as Ebola or even the typical influenza virus, it is important to identify some of the genetic factors related to these conditions and to be proactive in supporting a framework that will have a positive impact on patient care and related outcomes (CDC, 2014). These practices require an understanding of the risks associated with the genetic evaluation of infectious diseases and how these practices might benefit prevention, but may also raise new questions regarding the scope of practice and the ability to be proactive in meeting the needs of a population that requires continuous care and treatment in different ways.

Ethical, Legal, and Social Issues

The sensitive nature of issues related to the human genome, including genetic testing, must be addressed as part of the discussion of this vast undertaking and its influence on health outcomes. Throughout the past few decades, many questions have been raised in regards to the scope of genetic testing and how it impacts human health, along with other factors that may influence how genes contribute to disease and other conditions. Therefore, it is important to identify some of these issues and the ethical considerations that are often experienced with patients who face health risks where genetic testing may be involved. This practice requires further examination and demonstrates the significance of ethical principles and their role in genetic testing. To be specific, “If a person does not know he/she is predisposed to a genetic disorder, he/she does not have the information necessary to seek available treatments. The physician is always at the centre of the debate as to whether to inform family members of their risk. The physician is not only dedicated to protecting the confidentiality of patients, but also to the concept of doing no harm. If the physician does not inform family members, who together with their future children might themselves be at an increased risk for a genetic disorder, the principle of non‐maleficence may be being violated” (Fulda & Lykens, 2006).

The significance of genetic testing and its impact on human health cannot be undermined; however, this practice also contributes to many new questions regarding the ethical nature of these tests and how they contribute to the development of health-related decision-making for patients, family members, and physicians (Fulda & Lykens, 2006). This is a highly difficult premise to consider and it requires a high level understanding of the different elements that support patient health and wellbeing for many people. When genetic testing is conducted and the outcomes are not favorable, this may contribute to other decisions that further consideration and focus, thereby creating an environment in which human beings may impact human health and quality of life.

The practices that are associated with genetic testing and the human genome as a whole represent a means of considering how the scope of genetic testing poses a threat to the overall direction of patient care and treatment in many cases. These factors require a greater understanding of the scope of the human genome and how the ability to manipulate this genome may create new opportunities for individual patients to prevent disease or other conditions. In theory, this concept appears to be favorable; however, those who possess strong religious beliefs and other considerations may find that this process is largely unethical in nature because it may permit a human being to manipulate what is considered to be natural and part of a larger plan for every human being. By interfering with what occurs naturally, human beings are essentially forming their own destiny, which poses a serious threat to the basic ethical principles of the human condition. This is a difficult issue to overcome and creates new challenges for human beings in their efforts to overcome health concerns and other issues that may have a significant impact on quality of life in many cases. This process is essential to the discovery of new perspectives to determine how to address the ethical issues that occur with respect to the human genome and practices such as genetic testing.

The National Human Genome Research Institute (2014) of the National Institutes of Health represents an opportunity to convey the importance of new ideas and approaches to study and evaluate the human genome and its impact on research and related outcomes. It also supports the continued application of genetic principles to healthcare practice in order to achieve improvements in health and wellbeing for many patients (NHGRI, 2014). Primary issues of consideration include the following: 1) genetic discrimination; 2) intellectual property and genomics; 3) genetic testing and regulation; and 4) health issues and their relationship to genetics (NHGRI, 2014). Each of these issues represents an opportunity to examine the different standards and outcomes that have a lasting impact on patients and that support the growth and expansion of genetic research and related outcomes to improve health and wellbeing at the desired level (NHGRI, 2014). Many of these issues represent a means of examining new ideas to improve health and wellbeing through genetic considerations, while also recognizing that these activities may compromise ethical principles for some individuals and groups in some contexts; therefore, striking a balance between these perspectives is required to ensure that patient care outcomes are achieved and supported by new directions in genetic testing and evaluation to complement the programs that already exist within the scope of healthcare practice for many patients (NHGRI, 2014).

Relationship of Project to the Development of Professional Standards

In many areas of healthcare practice and research, the human genome may contribute to favorable outcomes in the creation of professional standards that govern disease. These practices require an understanding of the different elements that contribute to clinical research and outcomes, including those related to pediatric diseases of different types. Healthcare professionals must obtain training and knowledge in the elements of genetic testing and the human genome that impact their daily work activities, including the development of new perspectives that will have a lasting impact on their patients. For example, “the March of Dimes and its partners have developed a free point of care tool for primary prenatal providers, called the Pregnancy & Health Profile, to help integrate genetics into your practice.  The computer-based tool collects standard information as part of prenatal care intake and helps identify and address potential pregnancy conditions and family history risks to help keep a woman and her baby healthy” (March of Dimes, 2014). These conditions reflect the importance of developing strategies that support the growth of genetic data that is used in the practice environment and that supports long-term growth and change within the scope of the human genome (March of Dimes, 2014). These factors have lasting implications for healthcare providers because they aim to engage patients in areas that will have a significant and lasting impact on the health and wellbeing of expectant mothers and their unborn children throughout the pregnancy (March of Dimes, 2014). These standards may be applied to many different areas of healthcare practice and support the development of new directives to facilitate greater health and wellbeing across many different population groups. Organizations must be able to provide education regarding the human genome to their providers in an effort to apply these principles to patient care situations and to potentially improve health across a number of areas.

Advanced education and training for healthcare providers in regards to genomics is a complex process that requires significant attention and focus in order to achieve the desired outcomes. It is known that “Engaging clinicians in continuing education to integrate genomics into their clinical practices requires an approach that emphasizes the relevancy of the information to their practice, provides participants an opportunity to practice their new skills in a safe environment with peer feedback, and meets the time constraints of busy practicing clinicians” (NCHPEG, 2014). These efforts require a high level understanding of the different elements of genomics that may have a direct impact on patients and that also demonstrate the importance of shaping outcomes to reflect new directions in the scope of practice to support patients and to prevent further risk and harm (NCHPEG, 2014). These factors represent a means of framing genomics in a manner that is applicable to a wide variety of situations and that supports human health in a positive manner to increase the potential for improvements in health and wellbeing (NCHPEG, 2014).

Legislation Related to Genomic Information

The Genetic Information Nondiscrimination Act of 2008 (GINA) represents a legislative concern that prohibits any form of discrimination in employment and related to health insurance on the basis of genetic information that is derived (US Equal Employment Opportunity Commission, 2008). This Act enables all persons to be free from discrimination on the basis of genetic makeup and orientation, thereby supporting equal treatment for all persons in this area (EEOC, 2008). However, genetic discrimination remains a challenge in some employers, as it often disrupts a person’s ability to obtain a specific position because of genetic pre-screening or other tools (EEOC, 2008). Under these conditions, therefore, it is important to identify areas where these activities might exist and how to best address them through enforcement of this Act to prevent further discrimination from taking place (EEOC, 2008). When employers and health insurance providers discriminate on the basis of genetic information, this is a violation of their specific rights; therefore, they cannot be discriminated against on the basis of this law (EEOC, 2008). This is an important step in the continued growth and development of protections regarding genetic testing and the human genome and the issues that must be addressed related to these considerations (EEOC, 2014). It is necessary for this Act and other legislation that is specifically related to the human genome and genetic testing to be honored as part of a larger framework to achieve greater success and achievement in supporting the highest possible quality of research and healthcare practice to improve health and wellbeing.

Conclusion

The human genome is a vast and complex problem that continues to increase in scope for researchers and healthcare providers in the United States and throughout the world. This process is of critical importance in conducting research related to many different types of disease and in determining how to best approach patient care and treatment in the healthcare environment. It is important to identify the resources that are required to improve health outcomes and to address a variety of issues that support the need for genetic identification and testing in many different areas. In preparing the Doctoral level Advanced Practice Nurse, the human genome project provides important knowledge and resources to facilitate greater control and decision-making in the nursing environment when patients face questions or concerns regarding genetics that may impact their health. This practice encourages APNs to explore the human genome and to recognize the increased level of significance of these issues for many patients.

References

Centers for Disease Control & Prevention (2014). Public health genomics. Retrieved from http://www.cdc.gov/genomics/update/current.htm#infectious

Equal Employment Opportunity Commission (2008). The Genetic Information Nondiscrimination Act of 2008. Retrieved from http://www.eeoc.gov/laws/statutes/gina.cfm

Fulda, K.G., & Lykens, K. (2006). Ethical issues in predictive genetic testing: a public health perspective. Journal of Medical Ethics, 32(3), 143-147.

March of Dimes (2014). Medical resources. Retrieved from http://www.marchofdimes.org/professionals/medical-resources.aspx#

National Coalition for Health Professional Education in Genetics (2014). Medicine’s future: a genomics curriculum for clinicians. Retrieved from http://www.nchpeg.org/index.php?option=com_content&view=article&id=368:developing-a-hospital-based-genomics-curriculum&catid=35:todays-highlights

National Human Genome Research Institute (2014). Issues in genetics and health. Retrieved from http://www.genome.gov/10001740

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