DNP 810 Topic 5 Case Study: Part 3

DNP 810 Topic 5 Case Study: Part 3

Case Study 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 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.

Important information for writing discussion questions and participation

Welcome to class

Hello class and welcome to the class and I will be your instructor for this course. This is a -week course and requires a lot of time commitment, organization, and a high level of dedication. Please use the class syllabus to guide you through all the assignments required for the course. I have also attached the classroom policies to this announcement to know your expectations for this course. Please review this document carefully and ask me any questions if you do. You could email me at any time or send me a message via the “message” icon in halo if you need to contact me. I check my email regularly, so you should get a response within 24 hours. If you have not heard from me within 24 hours and need to contact me urgently, please send a follow up text to

I strongly encourage that you do not wait until the very last minute to complete your assignments. Your assignments in weeks 4 and 5 require early planning as you would need to present a teaching plan and interview a community health provider. I advise you look at the requirements for these assignments at the beginning of the course and plan accordingly. I have posted the YouTube link that explains all the class assignments in detail. It is required that you watch this 32-minute video as the assignments from week 3 through 5 require that you follow the instructions to the letter to succeed. Failure to complete these assignments according to instructions might lead to a zero. After watching the video, please schedule a one-on-one with me to discuss your topic for your project by the second week of class. Use this link to schedule a 15-minute session. Please, call me at the time of your appointment on my number. Please note that I will NOT call you.

Please, be advised I do NOT accept any assignments by email. If you are having technical issues with uploading an assignment, contact the technical department and inform me of the issue. If you have any issues that would prevent you from getting your assignments to me by the deadline, please inform me to request a possible extension. Note that working fulltime or overtime is no excuse for late assignments. There is a 5%-point deduction for every day your assignment is late. This only applies to approved extensions. Late assignments will not be accepted.

If you think you would be needing accommodations due to any reasons, please contact the appropriate department to request accommodations.

Plagiarism is highly prohibited. Please ensure you are citing your sources correctly using APA 7th edition. All assignments including discussion posts should be formatted in APA with the appropriate spacing, font, margin, and indents. Any papers not well formatted would be returned back to you, hence, I advise you review APA formatting style. I have attached a sample paper in APA format and will also post sample discussion responses in subsequent announcements.

Your initial discussion post should be a minimum of 200 words and response posts should be a minimum of 150 words. Be advised that I grade based on quality and not necessarily the number of words you post. A minimum of TWO references should be used for your initial post. For your response post, you do not need references as personal experiences would count as response posts. If you however cite anything from the literature for your response post, it is required that you cite your reference. You should include a minimum of THREE references for papers in this course. Please note that references should be no more than 5 years old except recommended as a resource for the class. Furthermore, for each discussion board question, you need ONE initial substantive response and TWO substantive responses to either your classmates or your instructor for a total of THREE responses. There are TWO discussion questions each week, hence, you need a total minimum of SIX discussion posts for each week. I usually post a discussion question each week. You could also respond to these as it would count towards your required SIX discussion posts for the week.

I understand this is a lot of information to cover in 5 weeks, however, the Bible says in Philippians 4:13 that we can do all things through Christ that strengthens us. Even in times like this, we are encouraged by God’s word that we have that ability in us to succeed with His strength. I pray that each and every one of you receives strength for this course and life generally as we navigate through this pandemic that is shaking our world today. Relax and enjoy the course!

Hi Class,

Please read through the following information on writing a Discussion question response and participation posts.

Contact me if you have any questions.

Important information on Writing a Discussion Question

• Your response needs to be a minimum of 150 words (not including your list of references)
• There needs to be at least TWO references with ONE being a peer reviewed professional journal article.
• Include in-text citations in your response
• Do not include quotes—instead summarize and paraphrase the information
• Follow APA-7th edition
• Points will be deducted if the above is not followed

Participation –replies to your classmates or instructor

• A minimum of 6 responses per week, on at least 3 days of the week.
• Each response needs at least ONE reference with citations—best if it is a peer reviewed journal article
• Each response needs to be at least 75 words in length (does not include your list of references)
• Responses need to be substantive by bringing information to the discussion or further enhance the discussion. Responses of “I agree” or “great post” does not count for the word count.
• Follow APA 7th edition
• Points will be deducted if the above is not followed

• Remember to use and follow APA-7th edition for all weekly assignments, discussion questions, and participation points.
• Here are some helpful links
• The is a great resource

Nutritional Assessment and Counseling

Adequate nutrition is important for patients suffering from Huntington’s disease. Patients are often wasted and underweight for their

age and height. Their being underweight requires that they take more calories in their diets when compared to their daily intake to meet the energy needs due to their physical activity. It is therefore important that these patients be assessed on a regular basis to determine their nutritional needs. Nutritional assessment should focus on multiple aspects. They include their eating habits and patterns since the disease can interfere with their eating. The assessment should also determine the severity of dysphagia using relevant tools such as the Swallowing Disturbance Questionnaire (Domino et al., 2019). The patient also needs observation for any signs of food aspiration upon consuming liquid foods.

Nutritional counseling plays a critical role in the promotion of health of patients suffering from Huntington’s disease. Patients should be educated on the importance of adequate nutrition to overcome the risks of malnutrition and its associated morbidities. Patients should be counseled on the need to take food that supplies at least 25 to 35 kcal.kg/day’s total energy. The ratio of carbohydrates and fat in the diet should remain normal as in the case of healthy beings. The patient should also consume animal protein, with the diet supplying proteins ranging between 0.8 and 1.5 g protein.kg/day (Essa et al., 2018). However, the dietary needs are revised based on the different stages of the disease in patients.

Prevalence Rates, Testing, Treatment, and Prognosis

The prevalence rate of Huntington’s disease due to nutritional causes remains unknown. However, it is estimated that about 5 to 10 people are affected by it in a population of 100,000 people. Global statistics reveal that about 189700 people are affected by the disease globally (Rodríguez-Quiroga et al., 2013). Genetic testing is often done to diagnose an individual with Huntington’s disease. A direct genetic test is done to count the number of the CAG repeat strains in the genes of the disease. A diagnosis is confirmed with the presence of at least 36 CAG repeats in the gene. The treatments that are used in Huntington’s disease depend largely on the symptoms that the patient present with to the hospital. Chorea, akathisia, and rigidity are treated with drugs that include tetrabenazine and neuropletics. Dystonia is treated with physiotherapy to maintain motion of joints. Myoclonus is treated with clonazepam, levetiracetam, and benzodiazepines. Balance disorders are managed with physiotherapy interventions while bruxism is treated with the injection of botulin toxin into masseter muscle (Bachoud-Lévi et al., 2019). The symptoms of Huntington’s disease worsen over time. The worsening is attributed to the progressive nature of the disease. However, it is estimated that people with the disease have a lifespan of about 15 to 25 years when diagnosed with it.

References

Bachoud-Lévi, A. C., Ferreira, J., Massart, R., Youssov, K., Rosser, A., Busse, M., … & Squitieri, F. (2019). International Guidelines for the treatment of Huntington’s Disease. Frontiers in neurology, 10, 710.

Chen, C. M., Lin, Y. S., Wu, Y. R., Chen, P., Tsai, F. J., Yang, C. L., … & Soong, B. W. (2015). High protein diet and Huntington’s disease. PLoS One, 10(5), e0127654.

Domino, F. J., Baldor, R. A., Golding, J., & Stephens, M. B. (2019). The 5-minute Clinical Consult 2020. Lippincott Williams & Wilkins.

Essa, M. M., Manivasagam, T., Justin-Thenmozhi, A., & Hamid, Q. A. (2018). Food for Huntington’s disease. Nova Science Publishers, Inc..

Glasner, P., & Rothman, H. (2017). Splicing Life?: The New Genetics and Society. Taylor & Francis.

Pitini, E., D’Andrea, E., De Vito, C., Rosso, A., Unim, B., Marzuillo, C., … & Villari, P. (2019). A proposal of a new evaluation framework towards implementation of genetic tests. PloS one, 14(8), e0219755.

Khan, H., Ullah, H., Tundis, R., Belwal, T., Devkota, H. P., Daglia, M., … & Du, M. (2020). Dietary Flavonoids in the Management of Huntington’s Disease: Mechanism and Clinical Perspective. eFood, 1(1), 38-52.

Quinn, P., & Quinn, L. (2018). Big genetic data and its big data protection challenges. Computer law & security review, 34(5), 1000-1018.

Rodríguez-Quiroga, S. A., Gonzalez-Morón, D., Garretto, N., & Kauffman, M. A. (2013). Huntington’s disease masquerading as spinocerebellar ataxia. Case Reports, 2013, bcr2012008380. doi: 10.1136/bcr-2012-008380.

DNP 810 Topic 5 Case Study: Part 3

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  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.

Include the following:

1. Examine how genetics can influence policy issues.
2. Discuss any nutritional influences for the cause of this disease.
3. Discuss the process of nutritional assessment and counseling as it relates to health, prevention, screening, diagnostics, prognostics, selection of treatment, and monitoring of treatment effectiveness.
4. Discuss the prevalence rates, testing, treatment, and prognosis as they relate to human nutrition.

It may be possible to earn portfolio practice immersion hours for this assignment. Enter the following after the references section of your paper:

Practice Immersion Hours Completion Statement DNP-810

I, (INSERT NAME), verify that I have completed (NUMBER OF) clock hours in association with the goals and objectives for this assignment. I also have tracked said practice immersion hours in the Typhon Student Tracking System for verification purposes and will be sure all approvals are in place from my faculty and practice mentor.