March 13, 2016  Thasneem Syed

Genetic Testing: Why Is It So Important?

“Alzheimer’s is a bad disease. We should cure it.” My first exposure to the heartbreaking implications of Alzheimer’s Disease came from countless hours of binge-watching Grey’s Anatomy, and for the first time, this rampant disease became more than just another name in a textbook. I watched the main character, Meredith Grey, experience her brilliant surgeon of a mother spiral deeper and deeper into the different stages of early onset Alzheimer’s. As she lost her memory, she also lost major parts of her identity, until she could no longer recognize herself or her loved ones, her daughter included. After seeing Meredith struggle with the fear of developing this debilitating condition herself, I realized that this is a battle thousands of people fight every day, a battle that stretches far beyond Alzheimer’s Disease into the vast world of genetic diseases.


Since the discovery of DNA and the role it plays in determining genetic inheritance, scientists have been trying to map out the human genetic code to see how it affects the lives of humans around the world. According to the National Human Genome Research Institute, the Human Genome Project was completed in 2003, and approximately 20,000-25,000 human genes were sequenced. As a result, genetic tests and technology have integrated themselves into many aspects of society, particularly healthcare. Genetic testing has become commonplace in the medical world, yet many people are not aware of its benefits, and many of those who are still have reservations.


Genetic testing is a generalized term for any test that recognizes alterations in an individual’s genetic sequence. This form of testing is used for everything from paternity tests to determining the likelihood of developing a genetic disorder. Various types of medical tests exist, including diagnostic testing – which is used to diagnose a genetic condition, carrier testing to identify any copies of a recessive mutations that cause genetic disorders –, and prenatal testing, which allows parents to determine the likelihood of their child developing a certain genetic disorder.

Tests like these are important in the medical world for numerous reasons. The use of genetic testing allows physicians to provide information to their patients in order to make informed decisions about their future – financially, physically, and emotionally. As with almost anything in the medical field, genetic testing has its limitations, particularly since it only provides limited information about a condition, and cannot determine symptoms or a course of treatment. The results can also be ambiguous and uncertain, posing another challenge. Many people choose not to get tested in order to avoid the potential mental and emotional consequences of a positive test result. However, the benefits of genetic testing far outweigh the costs. Genetic testing helps individuals plan for the future by eliminating doubt about whether they are at risk for a particular genetic condition. If a test result is negative, meaning an individual does not carry the gene that codes for a particular disorder, he or she no longer has to worry about developing the condition, which may have affected close family members. Although a positive test result does not necessitate that a person will acquire a certain disease, it does help one better prepare for the future and ensure a potential course of treatment before it is too late. The cost of treatment is often very expensive as well, and having this prior knowledge would enable individuals to begin saving and preparing before the disease actually develops. One of the major problems patients face is that by the time they are diagnosed, it is often too late because the disease has progressed so far that it is untreatable. Genetic screening allows an individual to plan for a life-altering disease and allows he or she to take any necessary preventative measures before the disease sets in. It also allows for a more personalized form of medicine, in which treatments, interventions, and products are tailored to a person’s specific needs before and after the condition manifests itself.

Genetic testing not only benefits people on an individual scale, but also on a global one. The results that come from tests provide valuable data about the prevalence and severity of many diseases. Researchers can also use this data to find new treatments for genetic diseases and improve existing ones, as well as make advancements in the accuracy and technology of genetic testing. While there are limitations surrounding most forms of testing, there may not be in the near future if genetic testing was more common.


Ultimately, genetic testing is meant to provide people with knowledge about their individual genetic codes, as well as that of the human race collectively. The more awareness people have of its benefits, which would encourage more people to get tested, the better our understanding of genetics and the active role it plays in each and every one of our lives will be. Even if not for personal gain, it is incredibly important to get tested for the sake of science and posterity. The world of science has progressed this far; who’s to say we won’t be able to find ways to eradicate disease altogether in the near future?

 

©2020 by UCSD Medical Literature Society.

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