NUR 3306 – Deliverable 7 – Comprehensive Case Summary

NUR 3306 – Deliverable 7 – Comprehensive Case Summary

B. was diagnosed with Huntington’s disease five years ago. Her son, J. B., is twenty- five now and decided to be tested for the disease. His test was positive, and he is in the office today to learn more about what this test result means for him and his future. He is currently unmarried and has no children.

Genetic/Genomic Assessment Findings

Huntington’s disease (H.D.) is an inherited neurodegenerative condition. It is an inherited autosomal dominant manner. A positive test means J.B. will develop Huntington’s in his lifetime if he lives long enough. He also has a fifty percent chance of passing the mutation along to his children if he chooses to have children. J. B. had predictive, presymptomatic testing. Presymptomatic testing occurs before any signs or symptoms of the condition occur. It is requested by people like J. B. who want to know their likelihood of developing a genetic condition in the future (Beery et al., 2018). If J.B. had not inherited the mutated gene, it would have meant he would not have developed the disease nor passed the gene on to any future children (About Huntington’s Disease, 2011).

Ethical Considerations

According to Olsen (2017), an ethical dilemma arises when conflicting values lead to conflicting goals. J.B. and the nurse may have a different value system. After discussing the progression of the disease and eventual outcome, J.B. and the nurse may have different goals. Professionally, the nurse wants to act in what he or she feels is the patient’s best interest. J. B. is an adult and can make decisions based on his beliefs, values, or even emotions (Olsen, 2017). The nurse can provide education and support but should not sway J. B. to make decisions he is not comfortable making. However, if J. B. is given the autonomy to make his own decisions and be involved in his care, there is an increased chance he will stick to a plan of care (Podlog & Brown, 2016).

NUR 3306 – Deliverable 7 – Comprehensive Case Summary

Ethical Theories and Principles

With autonomy, J.B. will have informed choice and informed consent to all testing and procedures as his care progresses. Nurses working in a genetics practice with the same ethical theories using beneficence and doing what is good or humane. Nurses act with nonmaleficence by preventing harm to their patients. Moreover, nurses act with justice by treating all patients equally and fairly (Robichaux, 2017). The foundation of any ethical discussion goes back to the nurse code of ethics. Using the code of ethics, the nurse can reinforce J.B.’s right to human dignity and respect. The nurse can help J.B. make decisions on care even when the decision means no care (Lachman et al., 2015). This decision may fall against the ethical theory of utilitarianism. Utilitarianism seeks the best outcome, which may not always reflect J.B.’s wishes. The primary concern for the nurse is caring for J.B. The ethics in care theory focuses on the caring and nurturing of J. B. Ethics in care can have its downfall because it tends to be based on emotions and feelings (Robichaux, 2017). Provision six of the code of ethics focuses on the moral character of the nurse and doing what is right (Lachman et al., 2015). This falls in line with the deontology theory, which follows moral law, rules, and principles. It is also considered an ethics of duty. What if J.B. decides to get married and not tell his wife about his condition? What if they decide to have children? The nurse might feel an obligation or duty to inform his wife, but that would conflict with J.B.’s wishes. A nurse working in genetics must have a solid moral and ethical value system in place and know how his or her value set will be tested in different situations (Robichaux, 2017).

Legal and Professional Policies

B. is helped by some federal laws by his new diagnosis. Under the Affordable Care Act, enacted in March 2010, J. B. can not be denied health insurance for this pre-existing condition. The Affordable Care Act also makes it illegal for insurance providers to cancel or raise premiums based on their condition. It enables J. B. to choose his providers (Health Coverage Rights and Protections, n.d.). Since J. B. has no symptoms at this time, he is offered no protection under the Americans with Disabilities Act (Americans with Disabilities Act, n.d.). The Genetic Information Nondiscrimination Act (GINA) was signed in 2008. GINA is another protection against health insurance abuse for J.B. Under GINA, health insurance companies can not use genetic information to raise premiums or cancel a policy. GINA also protects J.B. against employment discrimination based on genetic information. GINA will not protect J. B. in cases of life insurance, disability insurance, or long-term care insurance. Also, GINA does not apply if an employer has less than fifteen workers (The Genetic Information Nondiscrimination Act of 2008, n.d.). The professional nurse will follow standards of practice and a code of ethics. These practices promote collaboration among other health professionals and increase professional standards through research and scholarly inquiry. J.B.’s nurse will advocate for him and maintain his rights to confidentiality (Lachman et al., 2015). As a nurse in genetics, the code of ethics still applies. J. B. is the nurse’s primary concern, and it is the nurse’s responsibility to give him information regarding future care and help him make informed decisions. If, for example, J. B. had siblings, he would decide to inform them of his positive result and then decide whether to be tested (American Nurses Association & International Society of Nurses in Genetics (ISONG), 2016).

Interprofessional Care

As stated earlier, Huntington’s disease (H.D.) will manifest in J.B.’s lifetime. The onset of H.D. is usually seen between thirty and fifty years. J.B. is 25 now. J. B. looks distraught as he tells his nurse he only has “five good years left.” J. B.’s care team must include a counselor to assist J. B. in dealing with his feelings about the test results. As the disease progresses, it can cause changes in mood, including depression or anxiety. Regular counseling sessions can help monitor this progression (Huntington’s Disease, 2022). A neurologist will be on J.B.’s care team. A neurologist will perform baseline neurology testing with frequent follow-ups as his disease progresses. A certified genetic professional or clinical geneticist should be involved in J.B.’s care to explain further the testing and the plan of care for the future (Clinical Care & Services, 2022).

NUR 3306 – Deliverable 7 – Comprehensive Case Summary

Nursing Care Strategies

J.B. will be assisted with referrals to a geneticist, counseling, and neurology (Clinical Care & Services, 2022). J. B. shared that in his history, he was not married. He now states he is engaged. “How do I tell her this?” J.B. is offered credible websites that may assist him with information about the disease and its progression. They will offer tools on care and planning, which may be helpful now as J.B. may soon be caring for his mother. These websites also offer excellent information to share with family members. These websites include GARD, Genetic and Rare Diseases Information Center https://rarediseases.info.nih.gov/diseases/6677/huntington- disease, MedlinePlus https://medlineplus.gov/huntingtonsdisease.html, and Huntington’s Disease Society of America https://hdsa.org. J. B. may be assisted with informing his girlfriend, but he must ultimately be the one who informs her. Confidentiality and privacy will always be maintained during J. B.’s care (Beery et al., 2018).

References

 About Huntington’s disease. (2011, November 17). National Human Genome Research Institute. https://www.genome.gove/Genetic-Disorders/Huntingtons-Disease

American Nurses Association, & International Society of Nurses in Genetics (ISONG). (2016). Genetics/genomics nursing: Scope and standards of practice (Second ed.). American Nurses Association.

Americans with disabilities act. (n.d.). U. S. Department of Labor. https://www.dol.gov/general/topic/disability/ada

Beery, T. A., Workman, M. L., & Eggert, J. A. (2018). Genetics and genomics in nursing and health care (2nd ed.). F A Davis.

Clinical care & services. (2022). Huntington’s Disease Society of America. https://hdsa.org

Health coverage rights and protections. (n.d.). HealthCare.gov. https://www.healthcare.gov/health-care-law-protections/

Huntington disease. (n.d.). Genetic and rare diseases information center. https://rarediseases.info.nih.gov/diseases/6677/huntington-disease

Huntington’s disease. (2022). https://www.alz.org/alzheimers-dementia/what-is-dementia/types- of-dementia/huntington-s-disease.

Huntington’s disease. (2022, February 14). MedlinePlus. https://medlineplus.gov/huntingtonsdisease.html

Lachman, V. D., Swanson, E. O., & Winland-Brown, J. (2015). The new “code of ethics for nurses with interpretive statements” (2015): Practical clinical application, part ii. MEDSURG Nursing, 24(5), 363–368.

Olsen, D. P. (2017). What nurses talk about when they are talking about ethics. AJN, American Journal of Nursing, 117(11), 63–67. https://doi.org/10.1097/01.naj.0000526755.89118.fd

Podlog, L., & Brown, W. J. (2016). Self-determination theory: A framework for enhancing patient-centered care. The Journal for Nurse Practitioners, 12(8), e359–e362. https://doi.org/10.1016/j.nurpra.2016.04.022

Robichaux, C. (Ed.). (2017). Ethical competence in nursing practice. Springer Publishing Company. https://doi.org/10.1891/9780826126382

The Genetic Information Nondiscrimination Act of 2008. (n.d.). U.S. Equal Employment Opportunity Commission. https://www.eeoc.gov/statutes/genetic-information- nondiscrimination-act-2008

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Create a written case summary that details an evidence-based, interprofessional, comprehensive, holistic plan of care based on expected genetic and genomic assessment findings for a client with positive genetic test results. Include the following related to the chosen genetic condition:

Details pertaining to expected genetic and genomic assessment findings and diagnostic results, Ethical considerations, including a potential ethical dilemma,

Ethical, theoretical foundations, Relevant legal and professional policies, Interprofessional care, and Nursing care strategies.