Chances of Mr. Wayne’s Children Developing Familial Hypercholesterolemia

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.