Genetic Testing And The Diagnosis Of Genetic Diseases

1389 words - 6 pages

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 is separated from the other components of the blood (Holt, 2012). This DNA is sequenced by separating and amplifying DNA strands in the presence of dideoxynucleotides, which shortens strands by one nucleotide at a time. These strands are separated by length using electrophoresis and detected automatically by computers to be analyzed (Lyons, 2004). Another method of genetic testing is extracting one cell from an 8-cell embryo and using preimplantation genetic diagnosis (PDG) to determine the presence of disorder-causing genes (Holt, 2012).
These methods of genetic testing are accurate, as long as the genetic origin of the tested disease is known (Mahdieh & Rabbani, 2013), but their reliability is harmed by the fact that the results determine probability of diseases occurring (Holt, 2012). Even though a test accurately determines the presence of a given mutation, that mutation may only indicate a patient’s predisposition to developing symptoms. Since other genes or environmental factors may play a part in the tested disease, the results of testing aren’t entirely reliable for a conclusion of whether or not a patient will develop the disease.
One disease that can be tested for using these methods is Huntington’s...

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