Case Study, Chapter 8, Overview of Genetics and Genomics in Nursing

Cae study 8 – Nursing Homework Help| Nursing homework help

1. The nurse can explain to patients and their families that autosomal dominance genetic diseases occur when one gene mutation from an affected parent is transmitted. Each child has a 50/50 chance to inherit the mutation from an affected parent and develop the disease.

The polycystic renal disease is influenced by the expression of genes. It means that even though a patient’s gene is mutated, how the disease will manifest can differ. The nurse can further predict the level of the disease by monitoring the patient’s symptoms, such as hypertension and the size of the cysts on the kidneys, and assessing the patient’s family history.

The nurse’s role in integrating genetics in the nursing care provided for the patient includes educating the patient and family about the disease, assisting with genetic testing and counseling, monitoring for signs and symptoms of the disease and its complications, and providing emotional support and resources for coping with a chronic and progressive illness.

2. Affected individuals have a 50% probability of passing on the mutations to their offspring. This means that Mr. Wayne’s children have a 50% chance of developing familial hypercholesterolemia.

The nurse needs to explain Mr. Wayne how penetrance refers to the percent of people with the mutation in the gene who develop the actual disease. It is possible for penetrance to vary between individuals who have the same genetic mutation. Also, environmental factors could play a factor in whether or not the disease will manifest. It is therefore important that Mr. Wayne monitors his cholesterol level and follows a healthy life style to reduce his risk of contracting the disease. He should also encourage his kids to follow the same. She can refer Wayne to genetic counseling and testing in order to assess further his risk.