As healthcare prevails to progress, the role of genetics and genomics in nursing is flattering and progressively essential. Genetics and genomics play an outstanding role in nursing, from imparting information on inherited disorders to directing personalized treatment plans. Nurses who particularize in genetics and genomics work with patients and families, assessing their risk for inherited conditions and providing counseling and support (White et al., 2020). They can also work intimately with healthcare providers to embody genetic information into treatment plans and monitor patients’ reactions. With the development of genetic technology, like whole-genome sequencing, nurses got more tools than ever before to identify genetic mutations and modify treatments to an individual’s distinctive genetic makeup. As the comprehension of genetics and genomics pursues to increase, nurses will progress to play a crucial role in translating such mastery into enhanced patient care. This essay will explore a case study on a patient who is 38 years of age and diagnosed with autosomal dominant polycystic kidney disease and explain the characteristics of an autosomal dominant genetic disorder, the role of the characteristics of the disorder, and the roles of the nurse in integrating genetics in the nursing care offered for the patient.
Autosomal dominant genetic disorders are conditions generated by a solitary anomalous gene inherited from one of the parents. In the instances of polycystic kidney disease, the affected gene generates fluid-filled cysts to evolve in the kidneys, interfering with their rational function and leading to numerous complications (Bergmann et al., 2018). As it is an autosomal dominant disorder, there is a maximum chance that any child of an influenced parent will inherit the anomalous gene and contract the disease. It is essential for family members to be enlightened about the potential risks and to look for medical assessment if they encounter symptoms like abnormal swelling, high blood pressure, and urinary problems. As there is no cure for a polycystic kidney disorder, compassionate care can enable manage the symptoms and minimize complications. A subset of individuals with the disorder can be identified with hepatosplenomegaly; the renal disorder is often mild and may be realized incidentally during imaging studies of the abdomen (Sweeney & Avner, 2019). Approximately 50% of infants have clinical evidence of liver involvement at diagnosis, although histologic hepatic fibrosis is invariably present at birth. Additionally, genetic counseling can offer guidance and sustain for affected individuals and their families
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