Overview of Genetics and Genomics in Nursing

The Polycystic Kidney Disease

1. A patient who is 38 years of age is diagnosed with autosomal dominant polycystic kidney disease, a hereditary disease that results in fluid-filled cysts occupying space in the kidneys. The cysts can interfere with the function of the kidney and may burst and cause bleeding inside the kidney. The patient with polycystic kidney disease may or may not have a berry aneurysm of a blood vessel in the brain that could lead to bleeding and death, cysts on the ovaries, and a mitral valve prolapse (in females) that can lead to dysrhythmias (irregular heart rhythms), or diverticula (outpouching of the bowel) that are susceptible to infection and inflammation and may lead to gastrointestinal bleeding. The patient is susceptible to retaining fluid in the abdomen so the abdomen is large to constipation and to hypertension. There is no cure for the disease. The patient receives supportive care for the various symptoms or complications the patient may have.

  1. When explaining to the patient and family about polycystic kidney disease, the nurse should explain what characteristics of an autosomal dominant genetic disorder.
  2. How does variable expression of genetic characteristics play a role in the course of polycystic kidney disease and how can the nurse further predict the level of the disease?
  3. Identify the roles of the nurse in integrating genetics into the nursing care provided for the patient.





Overview of Genetics and Genomics in Nursing




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Overview of Genetics and Genomics in Nursing

The Polycystic Kidney Disease

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.

Characteristics of an Autosomal Dominant Genetic Disease

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

The Role of Variable Expression Genetic Characteristics in the Course of Polycystic Kidney Disease

Variable expression of a genetic attribute is the variability in how a gene is expressed in distinct individuals, even if they carry the same gene mutation. In cases of autosomal dominant polycystic kidney disease, the variance in the gene expression can play a meaningful role in the course of the disorder (Chebib & Torres, 2021). This can be seen when some individuals may have a more serious disorder with higher and more innumerable cysts in their kidneys, with others having a lenient form with equal and fewer cysts. Additionally, the variability in gene expression, environmental factors and lifestyle alternatives can also influence the course of the disorder. It is evident in individuals smoking or having uncontrolled hypertension encountering a more rapid disease development. A nurse can assist in predicting the level of the disorder by observing the patient’s symptoms and ushering in regular evaluation of their kidney function (Gounden et al., 2018). The nurse can also educate the patient on the necessity of maintaining a healthy lifestyle and sticking to a low-sodium diet to manage high blood pressure and minimize fluid retention. In addition, the nurse can work with the patient’s healthcare team to come up with a personalized treatment plan addressing the patient’s particular symptoms and complications. The nurse can assist in enhancing the quality of life and possibly slow the disorder’s progression by offering close monitoring to the patient and supportive care.

The Roles of the Nurse in Integrating Genetics in the Nursing Care Provided for the Patient

The nurse plays a critical role in integrating genetics into the nursing care offered for a patient diagnosed with an autosomal dominant polycystic kidney disorder. The nurse must have a meticulous comprehension of the patient’s family history, as it can assist in identifying any other family members at risk of inheriting the disorder. The nurse must also be informed about the disorder, its possible complications, and ways of managing them. It includes educating the patient on ways of modifying lifestyle, like changes in the diet, management of medications, and blood pressure observation (Goda et al., 2019). The nurse is also responsible to observe the patient for any symptoms of complications like bleeding and infection and punctually report any changes to the healthcare team. In addition, the nurse must motivate the patient to look for genetic counseling and testing to comprehend better their risk and assist them in informed decision-making about their healthcare. Comprehensively, the nurse’s role in integrating genetics into nursing care entails evaluation, education, advocacy, and monitoring, aiming to enhance the patient’s quality of life and minimize complications.


Genetics and genomics play a critical role in nursing care, especially in managing hereditary disorders like autosomal dominant polycystic kidney disease. Comprehending the characteristics of autosomal dominant genetic disorders is essential in elucidating the disease to patients and their families. The variable expression of genetic characteristics influences the course of the disorder, making it hard to predict the level of extremity. However, genetic testing can assist in discovering the risk of passing on the disorder to future generations, and as part of the nursing care team, the nurse can play a critical role in integrating genetics into patient care by evaluating family history, educating patients and families, and partnering with other healthcare professionals to offer comprehensive care. Nurses can enhance patient outcomes and offer more personalized and targeted care by pertaining a genetics and genomics lens to nursing care.












Bergmann, C., Guay-Woodford, L. M., Harris, P. C., Horie, S., Peters, D. J., & Torres, V. E. (2018). Polycystic kidney disease. Nature Reviews Disease Primers4(1), 50. https://doi.org/10.1038/s41572-018-0047-y

Chebib, F. T., & Torres, V. E. (2021). Assessing risk of rapid progression in autosomal dominant polycystic kidney disease and special considerations for disease-modifying therapy. American Journal of Kidney Diseases78(2), 282-292. https://doi.org/10.1053/j.ajkd.2020.12.020

Goda, H., Kawasaki, H., Masuoka, Y., Kohama, N., & Rahman, M. M. (2019). Opportunities and challenges of integrating genetics education about human diversity into public health nurses’ responsibilities in Japan. BMC Nursing18, 1-8. https://doi.org/10.1186/s12912-019-0391-6

Gounden, V., Bhatt, H., & Jialal, I. (2018). Renal function tests.

Sweeney, W. E., & Avner, E. D. (2019). Polycystic kidney disease, autosomal recessive.

White, S., Jacobs, C., & Phillips, J. (2020). Mainstreaming genetics and genomics: a systematic review of the barriers and facilitators for nurses and physicians in secondary and tertiary care. Genetics in Medicine22(7), 1149-1155.

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