Identifying Dna Abnormalities Through Genetic Testing

1578 words - 6 pages

Genetic testing involves examining an individual’s DNA and identifying abnormalities within the chemical makeup of specific structures. It, essentially, maps the person’s genome and can be interpreted to predict future issues. By analyzing the chromosome, genes, and even certain proteins, physicians and researchers can find changes that lead to inheritable disorders. These changes can lead to possible diagnosis or cure for the disorder in question. In most cases, genetic testing is used to determine the probability that an individual will develop a certain disorder. It is not used to specifically diagnose a disorder, as there are no techniques that are 100% accurate. Genetic testing techniques do give good evidence to confirm a physician’s findings, but it is not the first act a physician takes to diagnose a disorder. It can narrow a search or rule out a specific disorder very confidently, but making a diagnosis based solely on genetic testing is not an action that a qualified medical professional would consider.
There are many types of genetic tests that are administered to the adult population. The more commonly used genetic tests are paternity tests, genealogical tests, and forensic testing. They are quite self-explanatory; paternity tests are to determine relatedness of 2 subjects, genealogical tests are used to formulate a heritage or ancestry, and forensic testing is used to identify or rule out a person that has been charged with a crime. Other genetic tests include presymptomatic testing, used to determine the risk someone has to developing a genetic disorder, diagnostic screening, used to rule out or identify a suspected condition, and carrier screening, used to determine if an individual carries one copy of a gene mutation. In carrier screening, they want to know only about having a single defective gene because, if it is paired with another defective gene from the partner, it could lead to passing down a genetic disorder (NLM types, 2014).
Two specific techniques that the movie talked about were genotyping and actionable genes. Genotyping reveals the alleles of an individual that have been inherited (NOVA, 2012). This technique is very useful in situations that involve having more than one genotype that can be expressed, phenotypically, the same. Genotyping is usually used to study small, important fragments of the genome, like Single Nucleotide Polymorphism’s (SNPs). SNPs are minor changes in a nucleotide (A, T, G, and C) of the DNA that is not homologous to other individuals. The presence or absence of these SNPs can affect how an individual develops a disorder or responds to pathogens. They are critical, yet subtle differences within DNA that can have a major affect on the individual. Very similar to SNPs, actionable genes are disease causing variants that predispose an individual to a certain disease or disorder. These are beneficial to study because an individual can take steps to decrease their risk of having that issue. The...

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