Life is a valuable bounty, but each day can feel like a diversion of Russian roulette for those combating Polycystic Kidney Disorder. 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 (Kohrt 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 of a 38-year-old man with a significant family history of elevated cholesterol. From the case study, we shall explore the pattern of autosomal dominant inheritance, the chances of Mr. Wayne’s children developing familial hypercholesterolemia, and finally, explain the phenomenon of penetrance observed in autosomal dominant inheritance.
Autosomal dominant inheritance is a sequence of inheritance where a solitary copy of a mutated gene from one parent is sufficient to generate the disorder. In other terms, if one parent sustains the mutated gene, there is a 50% possibility that each of their children will inherit the disorder (Méjécase et al., 2020). The inheritance sequence is not impacted by gender and can impact both males and females equitably. Individuals with an autosomal dominant disease have a 50% possibility of generating the mutated gene to their children, and additionally, the seriousness and age of onset of the disorder may differ from person to person, even within the same family. In Mr. Wayne’s case, he is at risk for hereditary hypercholesterolemia, an autosomal dominant inherited condition, as for his family history of uplifted cholesterol levels.
From Mr. Wayne’s question, the nurse should inform him that familial hypercholesterolemia is an autosomal dominant inherited condition, meaning that if one parent has the gene mutation, there is a maximum chance that every child will inherit the gene mutation and evolve the condition. Given Mr. Wayne’s outstanding family history of raised cholesterol levels and his father’s impulsive death from a heart attack, it is essential for Mr. Wayne to take ways to manage his own risk and his offspring’s risk of the condition (Tada et al., 2021). The nurse can have a dialog with the patient on the necessity of continuous cholesterol screening, having healthy lifestyle choices like a heart-healthy diet and exercise, and possible medication options if the patient’s cholesterol levels are upraised. In addition, the nurse can motivate Mr. Wayne to analyze genetic testing with his healthcare provider to establish if he has the gene mutation and consider genetic counseling better to comprehend the implications for himself and his children.
Penetrance is a phenomenon noticed in autosomal dominant inheritance, and an individual with a dominant gene may or may not manifest the associated phenotype. In other terms, not all people with the gene will evolve the disorder, and others may remain unaffected. Penetrance is commonly demonstrated as a percentage, and it can differ according to the specific genetic mutation or environmental factors influencing the expressions of the gene (Taeubner et al., 2018). Various genetic mutation has large penetrance meaning that most of the individuals having the gene will acquire the disorder but for those having lower penetrance, meaning that just a tiny percentage of individuals with the gene will indicate the phenotype. Penetrance is essential in genetic counseling because it enables one to predict the likelihood of an individual acquiring a specific disease based on their genetic makeup.
Genetics and genomics play a progressively essential role in nursing practice, giving healthcare providers a better comprehension and management of the genetic condition. As
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