DNP 810 Topic 5 Case Study: Part 3

DNP 810 Topic 5 Case Study: Part 3

DNP 810 Topic 5 Case Study: Part 3

Sample Answer for DNP 810 Topic 5 Case Study: Part 3 Included After Question

You will be creating a case study in stages over four course topics. This assignment will add to your previous work in Topic 3. Use an example from your own personal practice, experience, or own personal/family; however, simulated cases are not acceptable for practice hours and therefore not acceptable for this assignment. Examples might include a patient with Duchesne’s muscular dystrophy, Huntington’s disease, Down’s syndrome, sickle cell anemia, BRCA 1 or BRCA 2 mutations, or other genetic disorder that you and/or the organization you practice in may specialize in treating.

General Requirements:

Use the following information to ensure successful completion of the assignment:

  • This assignment uses a rubric. Please review the rubric prior to beginning the assignment to become familiar with the expectations for successful completion.
  • Doctoral learners are required to use APA style for their writing assignments. The APA Style Guide is located in the Student Success Center.
  • This assignment requires that at least two additional scholarly research sources related to this topic, and at least one in-text citation from each source be included.
  • You are required to submit this assignment to LopesWrite. Refer to the LopesWrite Technical Support articles for assistance.

Directions:

For this assignment (Part 3 of the “Case Study”), write a paper (1,000-1,250 words) incorporating genetics information learned from assigned readings in Topics 1-5.

  1. Examine how genetics can influence policy issues.

Most diseases have a genetic component, including common chronic diseases like heart disease, cancer, and diabetes. Various genetic and environmental factors influence these conditions. Huntington’s disease (HD) is a genetic disorder passed on as an autosomal dominant trait during conception. HD manifests as a movement disorder characterized by neurologic and behavioral clinical manifestations that usually become apparent from 30 to 50 years and worsen in the next one to two decades of a person’s life (McColgan & Tabrizi, 2018). The purpose of this paper is to discuss the influence of genetics on policy, nutritional influences in HD, and the nutritional assessment and counseling process.

A Sample Answer For the Assignment: DNP 810 Topic 5 Case Study: Part 3

Title: DNP 810 Topic 5 Case Study: Part 3

How Genetics Influence Policy Issues

Genetics have a significant influence on policy issues. Genetic revolutions have raised the need for the consideration of healthcare policy issues that include genetic privacy, gene patenting, education, and regulation as well as standardization of genetic tests. Over the past few years, there has been a lack of adequate policy to address these issues. For example, a significant variation exists in the legislations adopted by countries to address the issue of genetic privacy. The use of the currently existing genetic tests also faces the challenge of the lack of testing regulation as well as assessment. As a result, not all the tests that are conducted are beneficial for clinical assessment (Glasner & Rothman, 2017). Therefore, policy interventions that aim at strengthening the legislations on these policy areas should be adopted.

Genetics also raises the need for public participation on issues surrounding genetic tests, use, and their significance. Governments have to ensure that the publics are informed about the different issues surrounding genetics. The issues include federal spending on the different genetic studies and the need of or lack of clinician involvement in the direct-to-consumer testing in genetics. Accordingly, public opinion is important since it shapes the policies that should be adopted in undertaking genetic testing. Accordingly, it not only influences the political decisions made by the politicians but also the designing of studies and interactions with patients by the clinicians. Based on this information, genetics influence the adoption of policies that safeguard the interests of various stakeholders in the society (Glasner & Rothman, 2017). An example is the Genetic Information Nondiscrimination Act that was adopted to provide strict oversight on clinical, laboratory, as well as in vitro genetic tests.

Social, Legal, and Ethical Implications of Genetic Testing

Genetic testing is associated with significant social, legal, and ethical implications that healthcare providers and policymakers must consider. Equity is one of the social issues that influence genetic testing in the modern world. Genetic testing should take into consideration the issues of fairness, justice, and equity. However, concerns have been raised on whether genetics will be used for discriminatory practices. In this case, a diagnosis of a genetic disorder in a population should not form the basis of discrimination in the access to the existing social resources. The other social issue arising from genetic testing is its social benefits. Accordingly, genetic testing should promote social wellbeing. The results should be used to inform positive social developments. Despite this, there are concerns genetic testing might act as the basis of violation of ethical principles of safety, informed consent, justice, non-maleficence and benevolence (Pitini et al., 2019). Therefore, it is essential that genetic testing consider these issues.

Genetic testing is also associated with significant legal implications. One of them is the promotion of privacy and confidentiality of genetic data and results. Genetic testing should be conducted with the protection of patient’s privacy. The privacy includes the patient or participant’s ability to provide informed and independent decisions on what and whether others should be informed about their genomic results. Confidentiality must also be promoted by ensuring that sensitive information is only accessed by authorized parties. It includes non-disclosure of the patient’s data. Therefore, healthcare providers, researchers, and institutions of healthcare are required by the law to protect privacy and confidentiality of the data as a way of ensuring safe use of genetic data and results (Quinn & Quinn, 2018). Cumulatively, the above findings demonstrate that genetic testing has ethical implications too. They include the need for the consideration of ethical principles that include justice, privacy, confidentiality, and informed consent and decision-making in genetic testing.

Nutritional Influences for the Cause of Huntington’s Disease

Huntingtin gene (HTT) gene with the expanded CAG repeats causes Huntington’s disease. The HTT gene is found in the liver and is attributed to deficiencies in the urea cycle. The disruption of the urea cycle occurs due to the influence of argininosuccinase acid lyase and arginosuccinic acid synthase enzymes. The activity of these enzymes can be regulated through dietary modification. For example, restriction of dietary proteins has been shown to result in the normalizing of blood citrulline and ammonia levels in Huntington’s disease. The consequence is the minimal aggregation of the HTT genes in the liver, enhanced rotarod activity alongside elevated striatal brain-derived neurotropic factor (Chen et al., 2015). Therefore, these changes reduce incidences of deficiencies in the urea cycle, hence, reduction in the severity of the disease.

Despite the above evidence on the positive influence of restricted protein intake, some dietary interventions have been associated with the development of Huntington’s disease in asymptomatic patients. For example, the consumption of dairy products is attributed to a two-fold rise in the risk of the development of the disease. The risk is attributed to the elevated phenoconversion. There is also the evidence that individuals who consume Mediterranean diet have increased risk of developing Huntington’s disease due to high rate of phenoconversion (Khan et al., 2020). Therefore, nutritional guidance, assessment, and counseling should be utilized to improve the health outcomes of patients suffering from the disease.

Reference

Environmental conditions. Environmental Conditions | Healthy People 2020. https://www.healthypeople.gov/2020/topics-objectives/topic/social-determinants-health/interventions-resources/environmental

Thomas, A. (2016). Environmental Public Health Week. Environmental Health Review59(4), 112–112. https://doi.org/10.5864/d2016-030

Rubric Criteria

Total 50 points

Criterion

1. Unsatisfactory

2. Less Than Satisfactory

3. Satisfactory

4. Good

5. Excellent

Process of Nutritional Assessment and Counseling

Process of Nutritional Assessment and Counseling Related to Health, Prevention, Screening, Diagnostics, Prognostics, Selection of Treatment, and Monitoring of Treatment Effectiveness

0 points

The process of nutritional assessment and counseling as it relates to health, prevention, screening, diagnostics, prognostics, selection of treatment, and monitoring of treatment effectiveness is not presented.

8 points

The process of nutritional assessment and counseling as it relates to health, prevention, screening, diagnostics, prognostics, selection of treatment, and monitoring of treatment effectiveness is presented but incomplete.

8.8 points

The process of nutritional assessment and counseling as it relates to health, prevention, screening, diagnostics, prognostics, selection of treatment, and monitoring of treatment effectiveness is presented but done at a perfunctory level.

9.2 points

The process of nutritional assessment and counseling as it relates to health, prevention, screening, diagnostics, prognostics, selection of treatment, and monitoring of treatment effectiveness is clearly presented. Discussion is convincing. Information presented is from mostly current scholarly sources, but some outdated sources are used.

10 points

The process of nutritional assessment and counseling as it relates to health, prevention, screening, diagnostics, prognostics, selection of treatment, and monitoring of treatment effectiveness is clearly presented. Discussion is insightful and detailed. Information presented is from current scholarly sources.

Argument Logic and Construction

Argument Logic and Construction

0 points

Statement of purpose is not justified by the conclusion. The conclusion does not support the thesis. Argument is incoherent and uses non-credible sources.

3.2 points

Sufficient justification of thesis is lacking. Argument lacks consistent unity. There are obvious flaws in the logic. Some sources have questionable credibility.

3.52 points

Argument is orderly but may have a few inconsistencies. The argument presents minimal justification of the thesis. Argument logically, but not thoroughly, supports the purpose. Sources are credible. Introduction and conclusion bracket the thesis.

3.68 points

Argument shows logical progressions. Techniques of argumentation are evident. There is a smooth progression in support of the thesis from introduction to conclusion. Most sources are authoritative.

4 points

Clear and convincing argument that presents a persuasive evidence in support of the thesis in a distinctive and compelling manner. All sources are authoritative.

Paper Format (Use of appropriate style for the major and assignment)

Paper Format (Use of appropriate style for the major and assignment)

0 points

Template is not used appropriately, or documentation format is rarely followed correctly.

2 points

Appropriate template is used, but some elements are missing or mistaken. A lack of control with formatting is apparent.

2.2 points

Appropriate template is used. Formatting is correct, although some minor errors may be present.

2.3 points

Appropriate template is fully used. There are virtually no errors in formatting style.

2.5 points

All format elements are correct.

Prevalence Rates, Testing, Treatment, and Prognosis as They Relate to Human Nutrition

Prevalence Rates, Testing, Treatment, and Prognosis as They Relate to Human Nutrition

0 points

Discussion of prevalence rates, testing, treatment, and prognosis as they relate to human nutrition is not presented.

6 points

Discussion of prevalence rates, testing, treatment, and prognosis as they relate to human nutrition is presented, but incomplete.

6.6 points

Discussion of prevalence rates, testing, treatment, and prognosis as they relate to human nutrition is present but done at a perfunctory level.

6.9 points

Discussion of prevalence rates, testing, treatment, and prognosis as they relate to human nutrition is clearly presented. Discussion is convincing. Information presented is from mostly current scholarly sources, but some outdated sources are used.

7.5 points

Discussion of prevalence rates, testing, treatment, and prognosis as they relate to human nutrition is clearly presented. Discussion is insightful and detailed. Information presented is from current scholarly sources.

Nutritional Influences for the Cause of This Disease

Nutritional Influences for the Cause of This Disease

0 points

Discussion of any nutritional influences for the cause of this disease is not present.

6 points

Discussion of any nutritional influences for the cause of this disease is present but incomplete.

6.6 points

Discussion of any nutritional influences for the cause of this disease is present but done at a perfunctory level.

6.9 points

Discussion of any nutritional influences for the cause of this disease is clearly present. Discussion is convincing. Information presented is from scholarly but dated sources.

7.5 points

Discussion of any nutritional influences for the cause of this disease is clearly present. Discussion is insightful. Information presented is from current scholarly sources.

Thesis Development and Purpose

Thesis Development and Purpose

0 points

Paper lacks any discernible overall purpose or organizing claim.

2.8 points

Thesis is insufficiently developed and/or vague; purpose is not clear.

3.08 points

Thesis is apparent and appropriate to purpose.

3.22 points

Thesis is clear and forecasts the development of the paper. It is descriptive and reflective of the arguments and appropriate to the purpose.

3.5 points

Thesis is comprehensive. The essence of the paper is contained within the thesis. Thesis statement makes the purpose of the paper clear.

Mechanics of Writing (includes spelling, punctuation, grammar, language use)

Mechanics of Writing (includes spelling, punctuation, grammar, language use)

0 points

Surface errors are pervasive enough that they impede communication of meaning. Inappropriate word choice and/or sentence construction are used.

2 points

Frequent and repetitive mechanical errors distract the reader. Inconsistencies in language choice (register), sentence structure, and/or word choice are present.

2.2 points

Some mechanical errors or typos are present but are not overly distracting to the reader. Correct sentence structure and audience-appropriate language are used.

2.3 points

Prose is largely free of mechanical errors, although a few may be present. A variety of sentence structures and effective figures of speech are used.

2.5 points

Writer is clearly in command of standard, written, academic English.

Examination of How Genetics Can Influence Policy Issues

Examination of How Genetics Can Influence Policy Issues

0 points

Examination of how genetics can influence policy issues is not present.

8 points

Examination of how genetics can influence policy issues is present but incomplete.

8.8 points

Examination of how genetics can influence policy issues is present but done at a perfunctory level.

9.2 points

Examination of how genetics can influence policy issues is clearly presented. Discussion is convincing. Information presented is from scholarly but dated sources.

10 points

Examination of how genetics can influence policy issues is clearly presented. Discussion is insightful. Information presented is from current scholarly sources.

Documentation of Sources

Documentation of Sources (Includes citations, footnotes, references, bibliography, etc., as appropriate to assignment and style.)

0 points

Sources are not documented.

2 points

Documentation of sources is inconsistent or incorrect, as appropriate to assignment and style, with numerous formatting errors.

2.2 points

Sources are documented, as appropriate to assignment and style, although some formatting errors may be present.

2.3 points

Sources are documented, as appropriate to assignment and style, and format is mostly correct.

2.5 points

Sources are completely and correctly documented, as appropriate to assignment and style, and format is free of error.

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  • Discussion Questions (DQ)

Initial responses to the DQ should address all components of the questions asked, including a minimum of one scholarly source, and be at least 250 words. Successful responses are substantive (i.e., add something new to the discussion, engage others in the discussion, well-developed idea) and include at least one scholarly source. One or two-sentence responses, simple statements of agreement or “good post,” and responses that are off-topic will not count as substantive. Substantive responses should be at least 150 words. I encourage you to incorporate the readings from the week (as applicable) into your responses.

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Your initial responses to the mandatory DQ do not count toward participation and are graded separately. In addition to the DQ responses, you must post at least one reply to peers (or me) on three separate days, for a total of three replies. Participation posts do not require a scholarly source/citation (unless you cite someone else’s work). Part of your weekly participation includes viewing the weekly announcement and attesting to watching it in the comments. These announcements are made to ensure you understand everything that is due during the week. DNP 810 Topic 5 Case Study: Part 3

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Familiarize yourself with the APA format and practice using it correctly. It is used for most writing assignments for your degree. Visit the Writing Center in the Student Success Center, under the Resources tab in Loud-cloud for APA paper templates, citation examples, tips, etc. Points will be deducted for poor use of APA format or absence of APA format (if required). Cite all sources of information! When in doubt, cite the source. Paraphrasing also requires a citation. I highly recommend using the APA Publication Manual, 6th edition.

  • Use of Direct Quotes

I discourage over-utilization of direct quotes in DQs and assignments at the Master’s level and deduct points accordingly. As Masters’ level students, it is important that you be able to critically analyze and interpret information from journal articles and other resources. Simply restating someone else’s words does not demonstrate an understanding of the content or critical analysis of the content. It is best to paraphrase content and cite your source. DNP 810 Topic 5 Case Study: Part 3

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The university’s policy on late assignments is a 10% penalty PER DAY LATE. This also applies to late DQ replies. Please communicate with me if you anticipate having to submit an assignment late. I am happy to be flexible, with advance notice. We may be able to work out an extension based on extenuating circumstances. If you do not communicate with me before submitting an assignment late, the GCU late policy will be in effect. I do not accept assignments that are two or more weeks late unless we have worked out an extension. As per policy, no assignments are accepted after the last day of class. Any assignment submitted after midnight on the last day of class will not be accepted for grading.

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