DNP 810 Case Study: Part 3 Huntington's Disease

Grand Canyon University DNP 810 Case Study: Part 3 Huntington’s Disease– Step-By-Step Guide

This guide will demonstrate how to complete the Grand Canyon University DNP 810 Case Study: Part 3 Huntington’s Disease assignment based on general principles of academic writing. Here, we will show you the A, B, Cs of completing an academic paper, irrespective of the instructions. After guiding you through what to do, the guide will leave one or two sample essays at the end to highlight the various sections discussed below.

How to Research and Prepare for DNP 810 Case Study: Part 3 Huntington’s Disease

Whether one passes or fails an academic assignment such as the Grand Canyon University NUR 550 Benchmark – Evidence-Based Practice Project: Literature Review depends on the preparation done beforehand. The first thing to do once you receive an assignment is to quickly skim through the requirements. Once that is done, start going through the instructions one by one to clearly understand what the instructor wants. The most important thing here is to understand the required format—whether it is APA, MLA, Chicago, etc.

After understanding the requirements of the paper, the next phase is to gather relevant materials. The first place to start the research process is the weekly resources. Go through the resources provided in the instructions to determine which ones fit the assignment. After reviewing the provided resources, use the university library to search for additional resources. After gathering sufficient and necessary resources, you are now ready to start drafting your paper.

How to Write the Introduction for DNP 810 Case Study: Part 3 Huntington’s Disease

The introduction for the Grand Canyon University DNP 810 Case Study: Part 3 Huntington’s Disease is where you tell the instructor what your paper will encompass. In three to four statements, highlight the important points that will form the basis of your paper. Here, you can include statistics to show the importance of the topic you will be discussing. At the end of the introduction, write a clear purpose statement outlining what exactly will be contained in the paper. This statement will start with “The purpose of this paper…” and then proceed to outline the various sections of the instructions.

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How to Write the Body for DNP 810 Case Study: Part 3 Huntington’s Disease

After the introduction, move into the main part of the DNP 810 Case Study: Part 3 Huntington’s Disease assignment, which is the body. Given that the paper you will be writing is not experimental, the way you organize the headings and subheadings of your paper is critically important. In some cases, you might have to use more subheadings to properly organize the assignment. The organization will depend on the rubric provided. Carefully examine the rubric, as it will contain all the detailed requirements of the assignment. Sometimes, the rubric will have information that the normal instructions lack.

Another important factor to consider at this point is how to do citations. In-text citations are fundamental as they support the arguments and points you make in the paper. At this point, the resources gathered at the beginning will come in handy. Integrating the ideas of the authors with your own will ensure that you produce a comprehensive paper. Also, follow the given citation format. In most cases, APA 7 is the preferred format for nursing assignments.

How to Write the Conclusion for DNP 810 Case Study: Part 3 Huntington’s Disease

After completing the main sections, write the conclusion of your paper. The conclusion is a summary of the main points you made in your paper. However, you need to rewrite the points and not simply copy and paste them. By restating the points from each subheading, you will provide a nuanced overview of the assignment to the reader.

How to Format the References List for DNP 810 Case Study: Part 3 Huntington’s Disease

The very last part of your paper involves listing the sources used in your paper. These sources should be listed in alphabetical order and double-spaced. Additionally, use a hanging indent for each source that appears in this list. Lastly, only the sources cited within the body of the paper should appear here.

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Sample Answer for DNP 810 Case Study: Part 3 Huntington’s Disease

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.

How Genetics Can Influence Policy Issues

The genetic composition of a single disease and a person’s genetic makeup guide clinical decision-making. We are currently in a period where specific genetic knowledge has become crucial to effective health care delivery. When no therapies are available, genetic tests are used to prevent an affected child’s conception or birth (Chapman et al., 2020). However, genetic tests have led to various policy issues and advocacies on the need for policies to regulate genetic testing. The current genetic policies do not guarantee that adequate data on the predictability of genetic tests will be obtained before they get into clinical practice (Ruhl et al., 2020). They do not also assure that high laboratory quality will be maintained once tests are utilized clinically, and that genetic test results will benefit individuals who are tested.

Genetic tests have been associated with adverse social consequences like discrimination and breaches of confidentiality, which are barriers to testing. This has influenced the development of policies to minimize these consequences to promote a wide acceptance of genetic tests. Besides, there has been a demand for the enactment of government policies to promote the safe and effective implementation of genetic tests (Ruhl et al., 2020). Furthermore, genetics has influenced policy with laws being developed requiring laboratories conducting genetic tests to have special quality assurance procedures. The US Task Force on Genetic Testing advocates for a policy that requires health organizations to invent new genetic tests to present to institutional review boards, protocols for determining the clinical validity, including sensitivity and positive predictive value, and utility of the test (Chapman et al., 2020). Genetic testing has also led to policies issues on the need to have healthcare providers being mandated to provide quality pretest and post-test education and counseling to patients

Nutritional Influences For Huntington’s disease

HD is an autosomal dominant hereditary disorder, and no nutritional causes have been identified as causes of the disease. Nonetheless, patients with HD develop motor, cognitive, psychiatric, and communication problems, necessitating consideration of nutritional factors. Christodoulou et al. (2020) explain that micronutrients like vitamin C, D, and E, are vital elements usually needed in small amounts. They are essential in maintaining physiological function, promoting good health, and the growth and development of a person. Studies have established the importance of micronutrients like vitamin C, vitamin E, flavonoids, and carotenoids as exogenous antioxidants that can eliminate free radicals that cause neurodegeneration.

Macronutrients, including carbohydrates, proteins, and fats, are essential for maintaining normal human body functions, including neuronal health. For instance, fatty acids curb the risk of developing cognitive impairment and dementia. Studies have shown the positive impact of the Mediterranean Diet (MD) on neurodegenerative disorders (Christodoulou et al., 2020). Persons who adhere to the diet have a lower incidence of dementia and Alzheimer’s since MD has beneficial effects in decreasing cognitive decline. Poor nutrition significantly affects functioning in patients with neurological conditions (Christodoulou et al., 2020). Thus, it is crucial to ensure optimal nutrition in patients with HD so that these difficulties are not worsened by poor diet.

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Nutritional assessment is a vital initial step in enhancing and maintaining nutritional status. It helps identify medical complications affecting the nutritional status and monitor individuals’ growth and weight trends. Besides, it is used to identify dietary habits that hinder improving health or increase the risk of disease and informs nutrition education and counseling (Ferrie, 2020). On the other hand, nutrition counseling is a participative process between a patient and a counselor that utilizes findings from the nutrition assessments to prioritize interventions to enhance nutritional status (Ferrie, 2020). Nutritional counseling helps to establish patient preferences, barriers to behavior change, and probable interventions to overcome the barriers.

The first step in nutritional assessment is interviewing the patient and examining pertinent medical records, diagnostic tests, and patient surveys. This helps to establish whether the patient has a dietary problem, and interpreting the data helps develop a nutritional diagnosis. This step should be thorough to prevent the whole process from breaking down and the patient from failing to obtain the desired results (Ferrie, 2020). The next step is formulating a nutritional diagnosis, which defines the problems that the nutritional counselor has identified in the assessment stage. The diagnosis is used to determine the appropriate course of action, including nutritional supplements and dietary interventions to recommend as well as exercise programs.

The third step is nutrition intervention, which involves the nutritional counselor providing recommendations and interventions to address each patient’s unique nutritional problems. This is the action phase whereby the patient and counselor execute the care plan and has four basic steps: Food and lifestyle recommendations, nutritional education, nutritional counseling, and coordination of nutritional care (Ferrie, 2020). The last stage is the monitoring and evaluation phase, whereby the counselor monitors the client’s progress and adjusts interventions per health changes. The counselor reviews the effective nutrition interventions and those that need retooling.

Prevalence Rates, Testing, Treatment, and Prognosis As They Relate To Human Nutrition

Obesity is a major concern related to human nutrition. It occurs when there is an imbalance between energy expenditure and energy intake due to a sedentary lifestyle and excessive calorie intake. CDC statistics show that the US had an obesity prevalence rate of 41.9% from 2017 to March 2020, a significant increase from 30.5%. The highest prevalence was among non-Hispanic Blacks (49.9%), seconded by Hispanics (45.6%), non-Hispanic whites (41.4%), and non-Hispanic Asians (16.1%) (Stierman et al., 2021). The testing measures for obesity include the body mass index (BMI), which compares weight against height. Obesity treatment includes lifestyle modification and bariatric surgery for persons with comorbidities. Lifestyle modification includes dietary changes and increasing physical exercise (Wharton et al., 2020). Obesity has a poor prognosis in individuals with comorbid chronic illnesses. It increases the cardiovascular mortality rate by 4-fold and the cancer mortality rate by 2-fold.

Conclusion

Genetic tests are increasingly being developed and conducted on individuals to prevent future diseases, which has led to the need for policies to regulate genetic testing. There is a demand for policies that require quality tests, confidentiality, and patient education. Poor nutrition impacts HD patients significantly due to physical and cognition difficulties. The \process of nutrition assessment and counseling involves assessment (interviewing and diagnostic tests), diagnosis, nutrition intervention, and monitoring and evaluation.

References

Chapman, C. R., Mehta, K. S., Parent, B., & Caplan, A. L. (2020). Genetic discrimination: emerging ethical challenges in the context of advancing technology. Journal of Law and the Biosciences, 7(1), lsz016. https://doi.org/10.1093/jlb/lsz016

Christodoulou, C. C., Demetriou, C. A., & Zamba-Papanicolaou, E. (2020). Dietary Intake, Mediterranean Diet Adherence and Caloric Intake in Huntington’s Disease: A Review. Nutrients, 12(10), 2946. https://doi.org/10.3390/nu12102946

Ferrie, S. (2020). What is nutritional assessment? A quick guide for critical care clinicians. Australian critical care: official journal of the Confederation of Australian Critical Care Nurses, 33(3), 295–299. https://doi.org/10.1016/j.aucc.2020.02.005

McColgan, P., & Tabrizi, S. J. (2018). Huntington’s disease: a clinical review. European journal of neurology, 25(1), 24–34. https://doi.org/10.1111/ene.13413

Ruhl, G. L., Hazel, J. W., Clayton, E. W., & Malin, B. A. (2020). Public Attitudes Toward Direct to Consumer Genetic Testing. AMIA … Annual Symposium proceedings. AMIA Symposium, 2019, 774–783.

Stierman, B., Afful, J., Carroll, M. D., Chen, T. C., Davy, O., Fink, S., … & Akinbami, L. J. (2021). National Health and Nutrition Examination Survey 2017–March 2020 Prepandemic Data Files Development of Files and Prevalence Estimates for Selected Health Outcomes.

Wharton, S., Lau, D. C., Vallis, M., Sharma, A. M., Biertho, L., Campbell-Scherer, D., … & Wicklum, S. (2020). Obesity in adults: a clinical practice guideline. Cmaj, 192(31), E875-E891.https://doi.org/10.1503/cmaj.191707

DNP 810 Case Study – Cumulative Part 4 Sample

Conclusion of the Case Study

Huntington’s disease (HD) is a form of genetic brain condition that is extremely rare and progressive. It is defined by the gradual degeneration of nerve cells in the brain, which ultimately leads to emotional problems, cognitive loss, and movement that is not under the person’s control. HD is a genetic disorder passed on as an autosomal dominant trait during conception. The purpose of this paper is to conclude the previous three assignments on HD and discuss ethical considerations in HD, how genetics can improve care and health outcomes, and patient education plan for HD.

Parts 1-3

Huntington’s disease

HD is a movement disorder that results in neurologic and behavioral symptoms that usually become apparent from 30 to 50 years and worsen in the next one to two decades of a patient’s life. It causes chorea, neuropsychiatric symptoms, and dementia during middle age, and most patients eventually require institutionalization. It is estimated that 30,000 people in the United States (US) have HD, and another 20,000 to 50,000 are presumed to carry the gene (McColgan & Tabrizi, 2018). Males and females are equally affected at a time in their lives when they are highly productive. Studies reveal that children born to parents with HD have a one in two chance of having the disorder and can pass it on to their children. This risk increases to one in three if both parents have the disease.

Laboratory Testing

Lab testing for HD includes genetic testing for the disease using blood samples. Polymerase chain reaction (PCR) testing and fragment sizing are also performed on the cytosine-adenine-guanine (CAG) trinucleotide repeat region of the HTT gene to identify or rule out HD (Kim et al., 2020). These tests are conducted on individuals with a family history of HD, regardless of whether or not they have HD symptoms. In most cases, the findings of the lab tests are coupled with those of other neurological examinations.

Indications for Chromosomal Analysis

The direct test for the HD gene involves cysteine-adenosine-guanine (CAG) analysis and repeat length. The chromosomal analysis enables healthcare providers to offer genetic counseling and psychological support services that facilitate predictive testing in a timely, sensitive, and informed fashion (Goldman et al., 2021). Indications for chromosomal analysis in HD include predictive testing in an asymptomatic person at risk for carrying the HD gene to confirm a suspected HD diagnosis and for prenatal and preimplantation genetic diagnosis (PGD). The common reasons for predictive testing include making plans on marriage, reproduction, finances, and the need to alleviate uncertainty (Goldman et al., 2021).

Confirmatory testing by chromosomal analysis of the HD gene is indicated at or following a clinical diagnosis of HD. A CAG replicate expansion in a patient with HD symptoms validates the clinical impression and supports HD diagnosis. In prenatal diagnosis, Chorionic Villus Sampling (CVS) and amniocentesis indicate if the parent is at risk or is positive for the HD gene (Garrett et al., 2019). CVS is performed from 10-12th week gestation, while amniocentesis is done from 14th to 20th week. Furthermore, the PGD test is conducted on a single cell obtained through a needle biopsy from the eight-cell embryo. The chromosomal analysis is carried out on the DNA from the single-cell, facilitating the detection of the HD replicates sizes for the specific embryo. It is worth noting that children should not undergo chromosomal analysis for HD except if there is a medically convincing reason, like a clinical diagnosis or a strong clinical suspicion of HD (Garrett et al., 2019). In these circumstances, the chromosomal analysis should come after a thorough neurological and neuropsychological examination.

Origin of Huntington’s Disease and Considerations for Practice and Patient Education

The HD gene is evident from conception and is inherited in an autosomal dominant manner. This means that every offspring of an affected parent, regardless of sex, has a 50% probability of inheriting the HD gene. HD is a single gene disorder attributed to a mutation in the HD gene (IT15) on chromosome 4 (Ghosh & Tabrizi, 2018). This causes unusual replication of the DNA sequence CAG, which normally codes for the amino acid glutamine. It results in a large protein called huntingtin, which has an extended stretch of polyglutamine residues that build up within neurons contributing to HD through unknown mechanisms. The more CAG replicates, the earlier the onset of HD and the more acute its expression (Ghosh & Tabrizi, 2018). The number of CAG replications increases with consecutive generations when the father transmits the mutation and can cause increasingly adverse phenotypes within a family over time.

In clinical practice, the clinician should consider that there is no existing treatment for HD, and the only approach to prevent gene transmission is for affected individuals to avoid having biological children. Patient education should involve genetic counseling, which is crucial for the offspring of patients with HD. The DNP-nurse should educate patients at risk for HD to be tested to establish whether they have an HD gene mutation. However, before the test, the DNP-nurse should counsel patients to ensure that they have voluntarily decided to undergo testing (McColgan & Tabrizi, 2018). Besides, counseling helps identify whether the advantages of knowing the results outweigh the risks of a positive result like mental distress.

Gene Mutation of Huntington’s Disease

The HD gene mutation occurs as multiple repeats of the particular base triplet CAG, which increases the gene’s length. HD is passed on as a dominant Mendelian gene. An autosomal dominant trait with a high penetrance means that an individual who inherits just one mutated allele has almost a 100% probability of developing HD (Gatto et al., 2020). Individuals who inherit the HD gene mutation from their father have an early onset of the disease and a shorter life expectancy than those who inherit it from their mother. Furthermore, there are differences in HD based on the size or length of the HD gene mutation. The longer the mutation, the more critical the HD is at an earlier age. Patients commonly have the HTT allele with CAG repeats ranging from 36 to 55. Besides, persons with the juvenile-onset disorder typically have CAG repeats above 60 (Gatto et al., 2020). However, individuals with alleles ranging from 27 to 35 do not exhibit signs of HD but are inclined to repeat instability.

How Genetics Can Influence Policy Issues

The genetic composition of a single disease and a person’s genetic makeup guide clinical decision-making. We are currently in a period where specific genetic knowledge has become crucial to effective health care delivery. When no therapies are available, genetic tests are used to prevent an affected child’s conception or birth (Chapman et al., 2020). However, genetic tests have led to various policy issues and advocacies on the need for policies to regulate genetic testing. The current genetic policies do not guarantee that adequate data on the predictability of genetic tests will be obtained before they get into clinical practice (Ruhl et al., 2020). They do not also assure that high laboratory quality will be maintained once tests are utilized clinically and that genetic test results will benefit individuals who are tested.

Genetic tests have been associated with adverse social consequences like discrimination and breaches of confidentiality, which are barriers to testing. This has influenced the development of policies to minimize these consequences to promote a wide acceptance of genetic tests. Besides, there has been a demand for the enactment of government policies to promote the safe and effective implementation of genetic tests (Ruhl et al., 2020). Furthermore, genetics has influenced policy with laws being developed requiring laboratories conducting genetic tests to have special quality assurance procedures. The US Task Force on Genetic Testing advocates for a policy that requires health organizations to invent new genetic tests to present to institutional review boards, protocols for determining the clinical validity, including sensitivity and positive predictive value, and utility of the test (Chapman et al., 2020). Genetic testing has also led to policy issues on the need to have healthcare providers being mandated to provide quality pretest and post-test education and counseling to patients.

Nutritional Influences For Huntington’s disease

HD is an autosomal dominant hereditary disorder, and no nutritional causes have been identified as causes of the disease. Nonetheless, patients with HD develop motor, cognitive, psychiatric, and communication problems, necessitating consideration of nutritional factors. Christodoulou et al. (2020) explain that micronutrients like vitamin C, D, and E, are vital elements usually needed in small amounts. They are essential in maintaining the physiological function, promoting good health, and the growth and development of a person. Studies have established the importance of micronutrients like vitamin C, vitamin E, flavonoids, and carotenoids as exogenous antioxidants that can eliminate free radicals that cause neurodegeneration.

Process of Nutritional Assessment and Counseling

The first step in nutritional assessment is interviewing the patient and examining pertinent medical records, diagnostic tests, and patient surveys. This helps to establish whether the patient has a dietary problem, and interpreting the data helps develop a nutritional diagnosis. This step should be thorough to prevent the whole process from breaking down and the patient from failing to obtain the desired results (Ferrie, 2020). The next step is formulating a nutritional diagnosis, which defines the problems that the nutritional counselor has identified in the assessment stage. The diagnosis determines the appropriate course of action, including nutritional supplements, recommended dietary interventions, and exercise programs.

The third step is nutrition intervention, which involves the nutritional counselor providing recommendations and interventions to address each patient’s unique nutritional problems. This is the action phase whereby the patient and counselor execute the care plan and has four basic steps: Food and lifestyle recommendations, nutritional education, nutritional counseling, and coordination of nutritional care (Ferrie, 2020). The last stage is the monitoring and evaluation phase, whereby the counselor monitors the client’s progress and adjusts interventions per health change. The counselor reviews the effective nutrition interventions and those that need retooling.

Part 4

Ethical Considerations for Huntington’s Disease

The ethical principles surrounding HD include respect for autonomy, nonmaleficence, and beneficence. Respect for autonomy should be considered in genetic counseling. The choice to undergo a predictive test chromosomal analysis for HD must always be informed, deliberated, and freely chosen (Chapman et al., 2020). Nonmaleficence should also be considered in genetic counseling, and the clinician should ensure that the test will not cause potential psychological harm to the patient. Thus, during genetic counseling, patient education should be provided to psychologically prepare individuals and mitigate psychological distress caused by positive results (Chapman et al., 2020). Beneficence in genetic testing should be considered, especially in children who should not be subjected to chromosomal analysis unless there is a medically convincing reason, like a clinical diagnosis or a strong clinical suspicion of HD.

How Genetics Can Improve Care And Health Outcomes While Reducing Cost To Usual Practices

Genetics can improve care by informing healthcare professionals of an individual’s risk for a particular disease including in the prenatal, newborn, childhood, and adult contexts. Besides, genetics are used as a screening tool for diseases and to characterize diseases, which inform the best care to implement in a patient (Green et al., 2020). This lowers the cost of care since health professionals identify a specific treatment approach rather than conducting trial and error of various therapies leading to high costs. Genetics also enhances the selection of pharmacological treatments and therapies designed to aim at the underlying disease genomics resulting in better health outcomes (Green et al., 2020). Furthermore, genetics guide the management of symptoms in genetic-related diseases resulting in better outcomes and reduced medical costs.

Changes In Approaches To Care When New Evidence Warrants Evaluation Of Other Options For Improving Outcomes Or Decreasing Adverse Events

When new evidence justifies the assessment of other options to improve outcomes or reduce adverse events, a series of action steps are undertaken. It takes several weeks to months to implement the change based on the nature of the practice change. Strategies that are used to promote the implementation of the new evidence include audit and feedback of the new evidence, change champions, use of clinical reminders and practice prompts, interactive education, and educational outreach (Engle et al., 2021). These strategies seek to improve providers’ awareness of the new evidence to modify their practice in order to improve health outcomes and minimize adverse events. Furthermore, leaders in the clinical care setting promote the change by encouraging and teaching employees about the change in practice.

Patient Education Plan For Huntington’s Disease

The education plan to educate patients on HD will enhance the quality of life for patients and their caregivers. It will also seek to educate and train patients to develop coping strategies to handle psychosocial stressors. The first step will be to assess patients’ knowledge level about HD, which will determine the area to emphasize during education. The second step will include educating patients on the general knowledge of HD, including clinical manifestations, risk factors, associated genetics, and genetic testing options. In addition, I will educate patients on the non-pharmacological approaches used to manage the disease symptoms, including psychological therapies available to mitigate the associated psychological distress. Teaching strategies that will be incorporated include brainstorming, discussions, and lecture. Education materials like pamphlets will be provided for patients to refer. The Teach-back method will be used to evaluate the effectiveness of the teaching plan. Patients will be instructed to explain what they have learned using their words, and this will be used to determine the degree to which they have understood.

Conclusion

HD is a neurodegenerative disorder genetically inherited as an autosomal dominant trait during conception. Polymerase chain reaction (PCR) testing and fragment sizing are used to confirm or rule out HD. Ethical considerations in HD surround the ethical principles of respect for autonomy, nonmaleficence, and beneficence. The patient education plan for HD will include teaching patients about the clinical manifestations, risk factors, and non-pharmacological management approaches to improve the quality of life.

References

Chapman, C. R., Mehta, K. S., Parent, B., & Caplan, A. L. (2020). Genetic discrimination: emerging ethical challenges in the context of advancing technology. Journal of Law and the Biosciences, 7(1), lsz016. https://doi.org/10.1093/jlb/lsz016

Christodoulou, C. C., Demetriou, C. A., & Zamba-Papanicolaou, E. (2020). Dietary Intake, Mediterranean Diet Adherence and Caloric Intake in Huntington’s Disease: A Review. Nutrients, 12(10), 2946. https://doi.org/10.3390/nu12102946

Engle, R. L., Mohr, D. C., Holmes, S. K., Seibert, M. N., Afable, M., Leyson, J., & Meterko, M. (2021). Evidence-based practice and patient-centered care: Doing both well. Health care management review, 46(3), 174. https://doi.org/10.1097/HMR.0000000000000254

Ferrie, S. (2020). What is nutritional assessment? A quick guide for critical care clinicians. Australian critical care: official journal of the Confederation of Australian Critical Care Nurses, 33(3), 295–299. https://doi.org/10.1016/j.aucc.2020.02.005

Garrett, J. R., Lantos, J. D., Biesecker, L. G., Childerhose, J. E., Chung, W. K., Holm, I. A., … & Brothers, K. (2019). Rethinking the “open future” argument against predictive genetic testing of children. Genetics in Medicine, 21(10), 2190-2198. https://doi.org/10.1038/s41436-019-0483-4

Gatto, E. M., Rojas, N. G., Persi, G., Etcheverry, J. L., Cesarini, M. E., & Perandones, C. (2020). Huntington’s disease: Advances in the understanding of its mechanisms. Clinical parkinsonism & related disorders, 3, 100056. https://doi.org/10.1016/j.prdoa.2020.100056

Ghosh, R., & Tabrizi, S. J. (2018). Huntington disease. Handbook of Clinical Neurology, 255–278. https://doi.org/10.1016/b978-0-444-63233-3.00017-8 

Goldman, J., Xie, S., Green, D., Naini, A., Mansukhani, M. M., & Marder, K. (2021). Predictive testing for neurodegenerative diseases in the age of next‐generation sequencing. Journal of Genetic Counseling, 30(2), 553-562. https://doi.org/10.1002/jgc4.1342

Green, E. D., Gunter, C., Biesecker, L. G., Di Francesco, V., Easter, C. L., Feingold, E. A., Felsenfeld, A. L., Kaufman, D. J., Ostrander, E. A., Pavan, W. J., Phillippy, A. M., Wise, A. L., Dayal, J. G., Kish, B. J., Mandich, A., Wellington, C. R., Wetterstrand, K. A., Bates, S. A., Leja, D., Vasquez, S., … Manolio, T. A. (2020). Strategic vision for improving human health at The Forefront of Genomics. Nature, 586(7831), 683–692. https://doi.org/10.1038/s41586-020-2817-4

Kim, K. H., Hong, E. P., Shin, J. W., Chao, M. J., Loupe, J., Gillis, T., … & Lee, J. M. (2020). Genetic and functional analyses point to FAN1 as the source of multiple Huntington’s disease modifier effects. The American Journal of Human Genetics, 107(1), 96-110.https://doi.org/10.1016/j.ajhg.2020.05.012

McColgan, P., & Tabrizi, S. J. (2018). Huntington’s disease: a clinical review. European journal of neurology, 25(1), 24–34. https://doi.org/10.1111/ene.13413