The polycystic kidney disease
2. Mr. Wayne is a 38-year-old man with a significant family history of elevated cholesterol levels. His father died at age 42 from a massive heart attack secondary to elevated cholesterol and triglycerides, and two of his older siblings are currently taking medications to lower their cholesterol levels. Mr. Wayne makes an appointment to discuss his risk for hypercholesterolemia. The nurse recognizes that Mr. Wayne is at risk for familial hypercholesterolemia because this is an autosomal dominant inherited condition.
- Describe the pattern of autosomal dominant inheritance.
- Mr. Wayne asks what chance his children have of developing familial hypercholesterolemia. How should the nurse respond?
- Explain the phenomenon of penetrance observed in autosomal dominant inheritance.
Genetics and Genomics in Nursing
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Genetics and Genomics in Nursing
The Polycystic Kidney Disease
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.
The Pattern of 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.
Chances of Mr. Wayne’s Children Developing Familial Hypercholesterolemia
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.
The Phenomenon of Penetrance Observed in Autosomal Dominant Inheritance
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.
Conclusion
Genetics and genomics play a progressively essential role in nursing practice, giving healthcare providers a better comprehension and management of the genetic condition. As indicated in the case of Mr. Wayne, genetic testing and counseling can enable distinguishing individuals at risk for inherited conditions guiding necessary interventions. The sequence of autosomal dominant inheritance, where a sole copy of a dominant gene leads to the expression of a specific trait or disease, is vital in genetic counseling. Responding to Mr. Wayne’s question on the likelihood of his offspring acquiring familial hypercholesterolemia, the nurse should inform him that each child has a maximum possibility of inheriting the dominant gene from their father and hence being at risk for the condition. The phenomenon of penetrance perceived in autosomal dominant inheriting indicates the variance in gene expression, and not all individuals with a dominant gene will appropriately acquire the associated disorder.
References
Kohrt, B. A., Ottman, K., Panter-Brick, C., Konner, M., & Patel, V. (2020). Why we heal: The evolution of psychological healing and implications for global mental health. Clinical Psychology Review, 82, 101920. https://doi.org/10.1016/j.cpr.2020.101920
Méjécase, C., Malka, S., Guan, Z., Slater, A., Arno, G., & Moosajee, M. (2020). Practical guide to genetic screening for inherited eye diseases. Therapeutic advances in ophthalmology, 12, 2515841420954592.
Tada, H., Takamura, M., & Kawashiri, M. A. (2021). Familial hypercholesterolemia: a narrative review on diagnosis and management strategies for children and adolescents. Vascular Health and Risk Management, 59-67.
Taeubner, J., Wieczorek, D., Yasin, L., Brozou, T., Borkhardt, A., & Kuhlen, M. (2018). Penetrance and expressivity in inherited cancer predisposing syndromes. Trends in cancer, 4(11), 718-728. https://doi.org/10.1016/j.trecan.2018.09.002
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