Genetic Counseling for Cystic Fibrosis

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Some of the inherited genes may predispose individuals to certain health conditions like cystic fibrosis among other inheritable diseases. Therefore, genetic counseling is recommended for people with a family history of a certain inheritable condition. This paper discusses the reasons for genetic counseling and possible responses from a patient together with ways of avoiding negative reactions.

Reasons for Genetic Counseling

The main reason for a genetic counseling exercise is to assess the risk of developing a certain health condition or disorder based on ones genetic patterns. Additionally, during this exercise, causes and inheritance of the disorder in question are explored together with establishing the availability of testing, prognosis, treatment, and medical management. Therefore, anyone with a family history of a given heritable condition can undergo this form of counseling. Similarly, one can undergo screening for conditions that are common within a certain ethnic group. Genetic screening can be carried out to establish whether there are familial causes behind developmental or health problems. Genetic counseling for cystic fibrosis is common to people planning to have a child. Based on the available information, parents are advised about the risk of having a child with this condition.

Possible Reactions from the Patient

In most cases, when people find out that they are predisposed to cystic fibrosis, they become anxious. Some may react calmly, process the information, and cooperate in charting the way forward. However, other people may react negatively and slip into denial. Therefore, the involved health practitioner should be keen on finding ways to handle the counseling session. To avoid negative reactions, one should communicate professionally by conveying information without sounding as an alarmist. Patients should be informed about the availability of different management and treatment methods for the condition.

Health

Prevention

Since cystic fibrosis is a genetic disorder, the only way to prevent it is to ensure couples seeking to have children are not carriers of the recessive gene. However, there is no guarantee that a child will not have the condition, as the gene is large and complex. Therefore, some of the genetic mutations associated with cystic fibrosis have not been discovered.

Screening

Anyone with a family history of cystic fibrosis should undergo screening. Additionally, couples planning to have a child should be tested for this condition. Screening of cystic fibrosis occurs through DNA testing to establish the presence of mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) (Cutting, 2015). The sweat test is the commonly used screening procedure. During this procedure, sweat is obtained from the patient and the amount of chloride in it is tested. Depending on the results from the sweat test, further tests can be conducted using blood samples to establish DNA mutations that are specific to this condition. The purpose of screening is to generate data that can be used in diagnosis.

Diagnostics

After the involved health practitioner gets laboratory results, diagnosis is made using the availed data. In the sweat test, if the chloride level is d 29 mmol/L, the probability of having the condition is ruled out. However, for levels between 30-59 mmol/L, one has a chance of having cystic fibrosis, and the results are repeated. Finally, for levels e 60 mmol/L, one is highly likely to be diagnosed with the condition. In DNA testing, if persons have one copy of CFTR gene mutation, they do not suffer from the condition, but they are carriers. However, if an individual has two copies of mutations, he or she is classified as having cystic fibrosis.

Prognostics

In cases where two carriers have a child, he or she will have a 25 percent chance of having cystic fibrosis and 50 percent probability of becoming a carrier (Massie, Robinson, & Cooper, 2016). However, there will also be a 25 percent chance that the child will not have the condition or be a carrier. If one of the partners has cystic fibrosis and the other is a carrier, there is a 50-50 chance that the child will have the condition or become a carrier (Massie et al., 2016). Finally, if one partner is a carrier and the other one is not, the probability of the child having the condition is minimal.

Selection of Treatment

Currently, there is no known cure for cystic fibrosis. Therefore, the available treatments are used to ease symptoms and reduce complications. Antibiotics can be used to prevent and treat different lung infections (Edmondson & Davies, 2016). Additionally, anti-inflammatory drugs may be used to reduce swellings in the lungs and airways. Mucus thinning drugs help to improve lung function. Bronchodilators relax bronchial tubes muscles to maintain open airways. Oral pancreatic enzymes may be used to assist in the absorption of nutrients in the digestive tract (Edmondson & Davies, 2016). Moreover, chest physical therapy can be used instead of medications. Ultimately, surgery may be used to remove nasal polyps, which affect breathing. The selected treatment depends on the diagnosis.

Monitoring of Treatment Effectiveness

The monitoring of the effectiveness of the chosen treatment plan occurs through the assessment of the outcomes observed at different stages of the procedure. If a certain treatment is not working or delivering desirable results, alternatives are considered under the instructions of a qualified medical practitioner.

Conclusion

Cystic fibrosis is a genetic condition, and people undergo genetic counseling to establish the risk of having the disorder. During the counseling session, issues like prevention, screening, diagnosis, prognosis, medical management, and treatment are addressed. This form of counseling is important as it can allow couples to make informed family planning decisions.

References

Cutting, G. R. (2015). Cystic fibrosis genetics: From molecular understanding to clinical application. Nature Reviews. Genetics, 16(1), 45-56.

Edmondson, C., & Davies, J. C. (2016). Current and future treatment options for cystic fibrosis lung disease: Latest evidence and clinical implications. Therapeutic Advances in Chronic Disease, 7(3), 170-183.

Massie, J., Robinson, P. J., & Cooper, P. J. (2016). The story of cystic fibrosis 1965-2015. Journal of Pediatrics and Child Health, 52(11), 991-994.

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