1. Impacts of Information on Client and Family Members
1.1. If a client receives a genetic test result that may warrant additional testing for their child, they reserve the right to not follow through with the additional testing and to not inform their child. For example, if a test result indicates that a client should have their children screened for risk of an inherited genetic condition, such as Huntington’s disease, but the client does not want to share the results with their children due to his or her right to privacy, they reserve the right to not do so.The ANA mandates that respecting individual autonomy and having an awareness of the potential impacts of hereditary disorders on a client’s biological relatives is a foundation of ethical nursing standards (ANA, 2016).
2. Ethical and Legal considerations
2.1. Duty to warn versus the right to privacy (Beery, Workman, & Eggert, 2018). Genetic test results can give data that indicates a risk of developing a condition different than the original intent of the test. This poses the question of a duty to warn the client of this risk; yet the data might cause unwarranted stress, anxiety, and require further testing, increased expenses, and family disruptions .The chances of incidental or secondary findings are known consequences of genetic and genomic testing, and there is a debate about the best way to approach the handling of the information(American Nurses Association [ANA], 2016)
2.2. Gene therapy consists of the use of a gene or modified gene to treat or prevent a disease. One Considerations also exist about availability and accessibility relative to cost. Since treatments such as gene therapy have been found to improve health outcomes, the opportunity should not have an exclusion for those who can’t afford it (Badzek, Hehaghan, Turner, & Monsen, 2013). A difficult question to answer involves who determines what conditions are considered “normal” compared to a “disability” as a differentiator among treatments (Beery, Workman, & Eggert, 2018, p.383).
3. Scope of Nursing Practice
3.1. There are five essential elements of nursing practice for genetic and genomic nurses set forth by the ANA.The first element mandates a holistic approach, the second mandates that genetic and genomic knowledge must be applied. The third element states that information should be gathered from both subjective and objective assessment data. The fourth element states the importance of a caring nurse-client relationship that respects ethical, legal, and social issues. The fifth essential element affirms that nurses function as consultants to members of the interprofessional healthcare team (ANA, 2016).
4. Description of Genetic Disorder
4.1. A rare disorder caused by the absence of the hexosaminidase enzyme that helps break down gangliosides. These gangliosides build up to toxic levels in the child's brain overtime and affect the function of the nerve cells. Eventually, this leads to blindness, paralysis and death. Tay-Sachs disease is an autosomal recessive disorder, which means that a child must inherit faulty HEXA genes from both parents. The risk factors for Tay-Sachs disease include having ancestors from eastern and Central European Jewish communities (Ashkenazi Jews) (Mayo Clinic, 2018).
5. Assessment Considerations
5.1. An eye exam may reveal a cherry-red spot in the back of the child's eyes.It is also important to assess for signs of pain, respiratory distress, difficulty swallowing and joint stiffness. Unfortunately, there is no cure for Tay Sachs disease. Therefore, the goal of treatment is support and comfort, known as palliative care (Mayo Clinic, 2018).
5.2. Other symptoms include vision and hearing loss, loss of motor skills, seizures, muscle weakness and movement problems(Mayo Clinic, 2018).
6. Sources American Nurses Association. (2016). Genetics/genomics Nursing : Scope and standards of practice (Vol. Second edition). Silver Spring, Maryland: American Nurses Association. Retrieved from http://ezproxy.rasmussen.edu/login?url=http://search.ebscohost.com/login.aspx?direct=true&db=nlebk&AN=1355786&site=eds-live Badzek, L., Henaghan, M., Turner, M., & Monsen, R. (2013). Ethical, legal, and social issues in the translation of genomics into health care. Journal of Nursing Scholarship, 45(1), 15–24. http://ezproxy.rasmussen.edu/login?url=http://search.ebscohost.com/login.aspx?direct=true&db=keh&AN=85861678&site=eds-live Beery, T.A., Workman, M.L. & Eggert, J. (2018). Genetics and genomics in nursing and health care. Retrieved from https://ebookcentral.proquest.com/lib/ras/reader.action?ppg=1&docID=5266021&tm=1541162637362 The Mayo Clinic Foundation for Medical Education and Research. (2018, May 16). Tay-Sachs disease. Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/tay-sachs-disease/symptoms-causes/syc-20378190. American Nurses Association. (2016). Genetics/genomics Nursing : Scope and standards of practice (Vol. Second edition). Silver Spring, Maryland: American Nurses Association. Retrieved from http://ezproxy.rasmussen.edu/login?url=http://search.ebscohost.com/login.aspx?direct=true&db=nlebk&AN=1355786&site=eds-live
