Identifying DNA Abnormalities Through Genetic Testing

explanatory Essay
1281 words
1281 words

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 mutati...

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...sts? Genetics Home Reference. Retrieved April 24, 2014, from
2. NOVA. (2012). Cracking Your Genetic Code USA: Public Broadcasting Service.
3. Heart, Lung, and Blood Institute. (2012, September 28). What Are the Signs and Symptoms of Sickle Cell Anemia? NHLBI, NIH. Retrieved April 30, 2014, from
4. Hamosh, A. (1999, June 13). OMIM Entry - # 603903 - SICKLE CELL ANEMIA. OMIM Entry - # 603903 - SICKLE CELL ANEMIA. Retrieved April 26, 2014, from
5. National Library of Medicine. (2014, April 28). What are the risks and limitations of genetic testing? Genetics Home Reference. Retrieved April 24, 2014,

In this essay, the author

  • Explains that the movie talked about genotyping and actionable genes. genotyping reveals the alleles of an individual that have been inherited.
  • Opines that prenatal screening and preimplantation genetic diagnosis are more beneficial than harmful and can help parents plan for possible eventualities.
  • Explains that sickle cell anemia is a well-researched disorder of the red blood cells.
  • Explains that genetic testing can determine whether a couple is carriers of disease, and if they will possibly pass it on to the next generation.
  • Describes the types of genetic tests available at the national library of medicine.
  • Describes the signs and symptoms of sickle cell anemia from the heart, lung, and blood institute.
  • Explains omim entry # 603903 - sickle cell anemia.
  • Explains the risks and limitations of genetic testing from the national library of medicine's genetics home reference.
  • Explains that genetic testing involves examining an individual's dna and identifying abnormalities within the chemical makeup of specific structures.
  • Explains the signs and symptoms of sickle cell anemia, including fatigue, shortness of breath, dizziness, headaches, and jaundice. the mutant beta globin (hbs) mutation is associated with many other genetic precursors.
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