Genetic testing entails probing a patients DNA.DNA is the chemical profile that contains genetics instruction for the functioning of body cells. Genetic testing can give fundamental information for diagnosing, treating, avoiding illness and also screening. One of such conditions that can be evaluated through genetic testing is cystic fibrosis, which seems to be affecting my patient.
The patient seems to be suffering from cystic fibrosis since he has signs such as a persistent cough that come along with thick mucus, wheezing and severe constipation. These are symptoms of a malady that might have been caused by genetic changes. It is recommended that the patient undergoes diagnostic testing for verification purposes since the signs available indicate he has the suspected disorder. The best candidates for genetic testing are people who have relatives that have been diagnosed with Cystic Fibrosis
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Genetic testing cystic fibrosis looks for mutations of the CFTR gene. The testing helps determine if a client hast the mutation and hence the chances of developing Cystic Fibrosis. The testing uses genetic material taken from the patient's cell collected from a blood sample or cell gently scraped from the inside of patients mouth (Cystic Fibrosis Foundation, n.d.). A panel test screen for common CF causing mutation while genetic sequencing helps identify rare CF causing mutations (WebMed). A positive CF test results is an indication the tested individual has the mutation of CFTR gene responsible for Cystic Fibrosis. Once the results are out, there will be a scheduled phone call conference with the patient to deliver the results to him (Woodcock, 2019).
Since the treatment options for adults suffering from cystic fibrosis is not a one-time thing, the patient will have to undergo daily treatment. The treatment includes supplements, airway clearance systems to relax mucus and clear it from the airways, nutrition therapy and exercises (Cystic Fibrosis, 2019).
The ethical dilemma that might arise here includes moral issues which involve veracity, the obligation to reveal information, and respect for the patient's privacy. Genetic counseling, on most occasions, raises unique ethical issues in relation to discretion and privacy protection (Muthuswamy, 2011).
Genetic counselors ought to notify their patients and assist them in dealing with their results. The counselor helps patients’ handle decisions such as revelling their sickness to biologic family or keeping their illness silent. More so, the counselor should help the patients find the best way to notify the family should he choose to reveal his condition. The genetic information could help family members; for instance, permit them to pick up their own prognosis.
References
Cystic Fibrosis (Adults). (2019). Michigan Medicine . Retrieved from https://www.uofmhealth.org/conditions-treatments/pulmonary/cystic-fibrosis
Cystic Fibrosis Foundation. (n.d). Carrier Testing for Cystic Fibrosis. Retrieved from https://www.cff.org/What-is-CF/Testing/Carrier-Testing-for-Cystic-Fibrosis/
Muthuswamy, V. (2011). Ethical issues in genetic counseling with special reference to haemoglobinopathies. Indian Journal of Medical Research . 134 (4): 547–551
WebMD. (n.d.).Is There a Gene Test for Cystic Fibrosis? Retrieved from https://www.webmd.com/children/gene-test-cystic-fibrosis#1
Woodcock, E. (2019, December 3). Best Ways to Deliver Test Results. Medscape. Retrieved from https://www.medscape.com/viewarticle/779151#vp_2
