Genetic-Based health issue – CYSTIC FIBROSIS

Genetic-Based health issue – CYSTIC FIBROSIS

Genetic-Based health issue – CYSTIC FIBROSIS 150 150 Peter

Genetic-Based health issue – CYSTIC FIBROSIS

1. Provide a brief history of the genetic-based health issue cystic fibrosis, including a description.

2. Analyze statistical information on cystic fibrosis

  • Be sure to support the statistical information about the genetic-based health issue with evidence from at least three additional scholarly resources.

3. Summarize the characteristic signs and symptoms associated cystic fibrosis.

4. Explain how patients are screened, diagnosed, and treated for cystic fibrosis

  • Describe patient screening and diagnoses related to the genetic-based health issue.
  • Explain any medications that may be used to treat the genetic-based health issue.

5. Explain whether pharmacogenomics are being used to treat the genetic-based health issue, or whether research in pharmacogenomics is being conducted for this genetic-based health issue by providing two examples.

6. Explain the nurse’s role in advocating for the patient diagnosed with cystic fibrosis.

7. Explain the ethical considerations nurses should be prepared to address with patients.

  • Support these considerations with evidence from at least three scholarly resources

Sample Paper

Provide a brief history of the genetic-based health issue cystic fibrosis, including a description

Cystic fibrosis is an inherited disorder associated with a build-up of thick sticky mucus in various vital organs, threatening the health of an affected individual. The condition is characterized by abnormalities that affect mucus-producing glands in the body, causing them to excrete abnormally thick mucus, which clogs the vital passages in the body hence inflammation and at times infections might occur. The disease is caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that is inherited as an autosomal recessive trait. The CFTR gene is responsible for providing instructions that regulate chloride ion channels (Granados et al., 2020). Chloride ions are important in regulating the movement of water across the cells for the production of thin mucus that can flow freely. Therefore, mutations in the CFTR gene affect the chloride ion transport channels impairing the movement of chloride ions and water across the cell membranes. This leads to the production of thick mucus by the glands along the airway passages and other organs that produce mucus, clogging the passageways leading to cystic fibrosis symptoms (De Boeck, 2020).

Analyze statistical information on cystic fibrosis

Cystic fibrosis affects approximately 30,000 people in the US, and about 1000 new cases are diagnosed each year. Across the globe, the estimated population of people with cystic fibrosis is 70 000; this is, however, attributed to underdiagnosis in Asia and Africa, although the condition is rare in this country. Both females and males are affected in similar measures; however, Caucasians are the most affected by these conditions than other ethnic groups. Among Caucasians, cystic fibrosis is diagnosed in 1 out of every 3200 live births, while the occurrence is lower for other groups. For example, among African Americans, cystic fibrosis affects 1 in every 17000 and is rarest for Asian Americans, where it occurs in 1 out of every 31000 people. Most of the cystic fibrosis diagnoses, approximately 75%, are made within 2 years after the child’s birth. However, more than 50% of the people affected by the disease are over 18 years old. The median age for people with cystic fibrosis is 47 years; however, some individuals can live up to 50s and 60s (Cystic Fibrosis Foundation, 2022).

Summarize the characteristic signs and symptoms associated cystic fibrosis

Cystic fibrosis symptoms vary significantly from one individual to another; some people only experience respiratory symptoms without any other complication, while others experience life-threatening symptoms. Respiratory symptoms include persistent coughs with sputum or phlegm, pneumothorax, nasal polyps, recurring lung infections and sinusitis, inflammation of the nasal passages, wheezing sounds, and exercise intolerance (Cystic Fibrosis Foundation, 2022). Digestive system symptoms include intestinal blockage/meconium ileus in newborns, foul-smelling and greasy stool, and severe chronic constipation that can result in rectal prolapse. The condition can also cause chronic abdominal pain and distention of the abdomen, gastroesophageal reflux, pancreatic insufficiency, infertility due to the absence of vas deferens, irregular menstruation periods in women, and higher salt levels in sweat (De Boeck, 2020).

Screening, diagnoses and treatment of Cystic fibrosis

There are two methods for diagnosing cystic fibrosis, including a sweat test and a genetic test. The sweat chloride test is a non-invasive procedure that determines the concentration of chloride ions in the collected sweat sample; less than 30 mmol/L, the test is negative for cystic fibrosis, 30-59 mmol/L borderline status, while above 60 mmol/L is considered positive. The genetic test assesses for specific gene mutations associated with cystic fibrosis (De Boeck, 2020). The ACMG/AGOG panel tests for 23 of the most common CFTR mutations associated with cystic fibrosis. Individuals with two copies of CFTR mutations are considered positive for cystic fibrosis; however, the combination determines the severity of the condition. Newborn screening involves testing for immunoreactive trypsinogen (IRT), a marker for the disease. Where IRT is high, a genetic test is conducted, and if it is positive, the baby is either a carrier or has the disease. Prenatal diagnostic testing includes chorionic villus sampling and amniocentesis (Granados et al., 2020).

Currently, there is no cure for cystic fibrosis, and care providers use a combination of medications to manage the disease. This includes antibiotics to treat infections, Mucus-thinning medications that assist in the clearance of the mucus from airways improving lung function, CFTR regulators which target the function of defective genes rather than clinical symptoms, bronchodilator medications are used to relax the muscles. Surgical procedures such as lung transplants are used to replace defective organs and severely affected organs (De Boeck, 2020).

Pharmacogenomics in cystic fibrosis

Pharmacogenomics is being used in treating cystic fibrosis. CFTR gene is responsible for the formation of CFTR protein which regulates the passage of particles in and out of cells (Middleton et al., 2019). Ivacaftor is one of the drugs that act on CFTR mutations causing the channel to open in people with cystic fibrosis; however, it is not effective for people with mutations that cause the absence of the channel (Center for Disease Control and Prevention, 2022).

Nurse’s role in advocating for the patient diagnosed with cystic fibrosis

The role of nurses includes facilitating communications between patients and their families, educating the patients concerning the disease, and management practices such as self-care practices, listening to the patient and providing advice to patients, and delivering quality care services to preserve the dignity of the patients. Nurses are also responsible for engaging in research to develop the most effective management practices for their patients. Nurses should also engage in developing policies that regulate the treatment of cystic fibrosis (Byra et al., 2021).

Ethical considerations nurses should be prepared to address with patients

Ethical considerations that should be addressed include informed consent; patients and their families need to be fully informed of the treatment procedure, and their consent before care providers initiate the treatment plan. This ensures that patients feel engaged and likely to follow up with instructions. Nonmaleficence requires that the treatment procedure does not harm the patient more than benefit them. Veracity; the care provider should disclose all the information to the patient regarding their health status even though it can cause patient distress (Byra et al., 2021).



Byra, S., Zubrzycka, R., & Wójtowicz, P. (2021). Positive Orientation and Posttraumatic Growth in Mothers of Children with Cystic Fibrosis-Mediating Role of Coping Strategies. Journal of Pediatric Nursing57, e1-e8.

Center for Disease Control and Prevention, (2022) Pharmacogenomics: What does it mean for your health? Retrieved from:

Cystic Fibrosis Foundation, (2022) About Cystic Fibrosis Retrieved from:

De Boeck, K. (2020). Cystic fibrosis in the year 2020: A disease with a new face. Acta paediatrica109(5), 893-899.

Granados, A., Chan, C. L., Ode, K. L., Moheet, A., Moran, A., & Holl, R. (2019). Cystic fibrosis related diabetes: Pathophysiology, screening and diagnosis. Journal of Cystic Fibrosis18, S3-S9.

Middleton, P. G., Mall, M. A., Dřevínek, P., Lands, L. C., McKone, E. F., Polineni, D., … & Jain, R. (2019). Elexacaftor–tezacaftor–ivacaftor for cystic fibrosis with a single Phe508del allele. New England Journal of Medicine381(19), 1809-1819.