Genetic Testing and The Diagnosis of Genetic Diseases

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Genetic testing is used to determine the risk of a patient or patient’s offspring developing genetic diseases. This is done with DNA sequencing in adults and preimplantation genetic diagnosis (PDG) on embryos. These methods of genetic testing are effective means of determining the likelihood of developing diseases such as Huntington’s disease, a disease resulting from trinucleotide repeat on chromosome 4p16.3 that causes uncontrollable muscle movement and decrease in cognitive function. However, they only determine probability, which isn’t an entirely reliable means of knowing whether or not symptoms will arise. It is patients’ right to opt for genetic testing on their own DNA, although they are accepting a great risk by doing so. DNA is unique to each individual, present in each individual since conception, and influences who each individual is, so the information contained within it belongs to each patient, despite the risks. Such risks include DNA testing services providing results to potential employers or insurers, who can make decisions at the disadvantage of the patients if high disease probabilities are discovered. The results can also cause patients to react emotionally poorly and make negative changes to their lifestyles. Although risky, patients deserve the rights to take these risks if they choose to do so. Genetic testing is the testing of DNA in a patient’s blood in order to detect genetic disorders. This can be used to predict the disease risk of an embryo, an unborn infant, or a fully grown patient, including the individual’s risk of passing on a genetic disorder to offspring (National Institute of Health [NIH], 2013). To test adult patients, a blood sample is first taken from the patient and the DNA ... ... middle of paper ... ...on series episode]. In P. Apsell (Executive producer), Nova. Arlington, VA: PBS Lyons, R.H. (2004). How do we Sequence DNA? In A Primer in DNA Structure and Function. Retrieved from http://seqcore.brcf.med.umich.edu/doc/educ/dnapr/sequencing.html Mahdieh, N. & Rabbani B. (2013). An Overview of Mutation Detection Methods in Genetic Disorders. Iranian Journal of Pediatrics, 23(4), 375-388. PMCID: PMC3883366 National Institute of Health. (2014). HTT huntingtin [ Homo sapiens (human) ]. Retrieved from U.S. National Library of Medicine, Genetics Home References website: http://www.ncbi.nlm.nih.gov/gene/3064 National Institute of Health. (2013). Genetic Testing. Retrieved from U.S. National Library of Medicine, Medline Plus website: http://www.nlm.nih.gov/medlineplus/genetictesting.html Online Mendelian Inheritance in Man. (2014). HUNTINGTON DISEASE; HD. MIM number: 143100

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