Cracking Your Genetic Code: A Review Of Genetic Testing

1878 words - 8 pages

Cracking Your Genetic Code: A Review of Genetic Testing
In Gattaca, the plot focuses on the ethics, the risks, and the emotional impact of genetic testing in the nearby future. The film was released in the 90s; yet in the present, the film does not give the impression of science fiction. Today, genetic testing is prevalent in many aspects of the scientific community. This paper will describe genetic testing, its purpose, diagnostic techniques that use genetic testing, relating Huntington’s disease to genetic testing, and the pros and cons of genetic testing.
Genetic testing
Description of genetic testing
By using identified gene mutations that are known to cause diseases, asymptomatic individuals are able to discover if they are at risk for specific genetic conditions; this is known as genetic testing. Unfortunately, genetic testing can vary in its predictive ability. For example, Huntington disease, Duchenne Muscular Dystrophy, Fragile X syndrome and multiple endocrine neoplasia type 2 are conditions that can be determined by genetic testing (Samen, 1996). In contrast, for multifaceted diseases like Alzheimer’s, breast and ovarian cancer and colorectal cancer, predisposition can be determined with genetic testing. However, an absolute diagnosis of those diseases cannot be made (Heshka et al., 2008).
Examples of genetic testing in “Cracking Your Genetic Code”
In the film, two contrasting examples of genetic testing are shown. The first example is of the twins Noah and Alexis Beery, who are stricken with a rare disease that mimics cerebral palsy. Through genetic testing, doctors discovered that the twins could be treated with dopamine. By sequencing their entire genome, the twin’s lives were saved. The second example is Andrew Schmitz, a five-year-old with an undiagnosed condition that causes high fevers, joint pain, and strokes. Dr. Howard Jacob, a geneticist sequenced Andrew’s genome; nevertheless, they were no closer to a diagnosis (Holt, 2012).
Genetic testing techniques used on adults
Confirmation of Mutated genes. When performed on adults, genetic tests can confirm or deny the presence of mutated genes in the patient’s genome. As previously mentioned, certain gene mutations are associated with diseases. Once the adult is tested and has a diagnosis, treatment may be administered. Before genetic testing was readily available, these patients would have to wait for the symptoms to develop in order to be diagnosed. Specifically, the technique of using recombinant DNA technology is used to identify various genetic abnormalities (Samen, 1996). Testing methods that examine genetic abnormalities can be at the protein or chromosomal level. Tay-Sachs disease is tested at the protein level using studies of enzymatic activity. In the biochemical assay test for Tay-Sachs, an artificial substrate that will fluoresce when converted to product is covalently linked to the normal substrate. If individuals are affected with Tay-Sachs, the product will not...

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