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Genetic Testing

Genetic Testing

Cystic Fibrosis

Methods of Testing

There are two tests that are commonly used in the diagnosis of cystic fibrosis: a sweat test and a genetic test. A sweat test measures the amount of chloride sweat. A genetic test detects the chromosomal mutations linked with the disease. Genetic testing involves looking at the DNA (genetic material) of the individual taken from their cells that have been gently scraped from inside the mouth or from a blood sample (Alma, 2021). Due to the severity of cystic fibrosis as well as the need for proactive treatment, it is routine for newborns to be screened. There are also times when an amniocentesis is performed between 15 and 20 weeks of pregnancy, and cells from the amniotic fluid are studied to detect cystic fibrosis genes. Chorionic villus sampling can be conducted between 10 and 13 weeks of pregnancy. A medical geneticist, nurse practitioner, specialist or primary care doctor can order the test as part of a genetic consultation. The test can then be done by a lab technician.

Psychological Needs

Parents and children with cystic fibrosis are highly prone to experience clinical depression and anxiety (Pakhale et al., 2015). Clients are likely to experience anxiety and feelings of being different since patients tend to be skinnier and underweight. Those in school are likely to be bullied.  Clients may also experience chronic pain in the abdomen and chest and problems with sexuality, autonomy, and relationships, hence increasing chances of depression, low self-esteem, and helplessness (Pakhale et al., 2015). It is important to address such psychological issues with the help of teachers, family members and a therapist. Family therapy can be helpful for both the client and the family since feelings of confusion, frustration, sadness and blaming might occur. This will help them deal with the psychological issues that can arise from suffering from cystic fibrosis.

References

Alma, L. (2021, July 4). How Cystic Fibrosis Is Diagnosed. Verywellhealth. Retrieved from https://www.verywellhealth.com/cystic-fibrosis-diagnosis-998227

Pakhale, S., Baron, J., Armstrong, M., Tasca, G., Gaudet, E., Aaron, S., … & Balfour, L. (2015). A cross-sectional study of the psychological needs of adults living with cystic fibrosis. PloS one, 10(6), e0127944.

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Question 


Genetic Testing

The first client you see in your clinical rotation has cystic fibrosis. As you engage this client and his family, you ask how they were diagnosed with this problem. The client doesn’t want to talk about it, and the family said that the physician took care of this a long time ago. Now you are curious and look up the testing process for genetic health problems.

  • • Describe methods of testing to diagnose cystic fibrosis. Discuss who may perform these tests and when.
  • • Describe what you believe will be the psychological needs of the client and family. Justify your thoughts based on facts about cystic fibrosis.

    Genetic Testing

    Genetic Testing

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