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Genetic Tests Case Study

3 pages
707 words
Boston College
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Dai is a 42-year-old female of Asian origin who is quite healthy. She is expecting her first child. All her information taken such as temperature, pulse was okay. Her blood pressure was also found to be normal. In Dai's case, there is no probable genetic cause or connection. She has explained that she has never suffered from any illness such as cancer or heart disease that might warrant testing. She just wants to ensure that her baby's health in the future will be okay and to eradicate any worries regarding her baby's health.

Genetic testing is a medical test that detects changes in genes, chromosomes or proteins. The gene tests are used to find used to search for any abnormality that might be found in a person's tissues, body fluids or blood. The genetic tests can search for huge mistakes, for example, a gene that has a section added or missing. Other tests can be used to find any marginal change in one's DNA. Other mistakes that can be recognized are genes which are not turned on, those that are entirely lost and those who are too active. Genetic tests look at a person's DNA in various ways. The tests are all made in a way that they can identify any differences between normal versions of that same gene which is being tested. The different types of gene testing are listed in the essay(Tidy, 2016).

One type of gene testing is called gene tests or molecular genetic tests. These look at the short lengths or simple genes of DNA which is taken from the blood of a person or other body fluids such as saliva. This helps in the identification of large changes, for example, a gene which may have a section added or a missing part of its gene. It can also help to identify small changes, for example, an altered, added or missing the part in the DNA strand.

Another type of test is a biochemical test. It focuses on the activities or amounts of key proteins. An abnormal activity or amount of proteins may be an indication of genes not working well because genes contain the code (DNA) for making proteins. Biochemical tests are used on newborns screening. Biochemical screening helps to detect newborns who have conditions that may affect one of the many important metabolic conditions (chemical reactions) in the body for example phenylketonuria.

Lastly, chromosomal genetic tests can be carried out. These look at the characteristics of a person's chromosomes. It includes their arrangement, number, and structure. Some parts of a chromosome may be extra, missing or may have moved to another chromosome on a different part. The test can be carried out by Karyotyping which involves taking a picture of all the chromosomes of a person. There is also Fluorescent in situ hybridization (FISH) analysis which looks at specific parts of a chromosome that are either extra or missing.

The genetic risk for Dia's child may be very minimal. This is because recent studies have shown that Asians are 25 times more unlikely to develop prostate cancer(Anand, et al., 2008). They are also ten times more unlikely to develop breast cancer than people of Western countries. These rates increase substantially when they go to live in Western countries.

Environmental or lifestyle factors may hinder the prognosis of a patient. The lifestyle factors may include physical activity if the family has a history of diabetes, obesity and smoking status. The environmental factors may include age at which she got her first child or the age at which she got her first period. I would recommend that the family sticks to a healthy lifestyle. It will help avoid any diseases that may occur due to not eating healthy(Park, 2012).



Anand, P., Kunnumakara, A. B., Sundaram, C., Harikumar, K. B., Tharakan, S. T., Lai, O. S., . . . Aggarwal, B. B. (2008, September). Cancer is a Preventable Disease that Requires Major Lifestyle Changes. Retrieved November 22, 2017, from

Park, A. (2012, May 25). Why Genetic Tests Dont Help Doctors Predict Your Risk of Disease. Retrieved November 22, 2017, from

Tidy, D. C. (2016, November 30). Genetic Testing. Prenatal diagnosis and screening. Retrieved November 22, 2017, from


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