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Genetic Testing and The Diagnosis of Genetic Diseases Essay example

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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. …show more content…

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 disease, which causes involuntary spasms and contractions and a decline of coordination and cognitive ability (Online Mendelian Inheritance in Man [OMIM], 2014). These symptoms occur as a result of a trinucleotide repeat in the huntingtin gene on chromosome 4p16.3, also known as the HTT gene. The disease is autosomal dominant, with the completeness of its

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