Genetic testing is the field of science whereby genetic disorders, or diseases, are diagnosed by examining a patients DNA. The field emerged in earnest during the early 1990’s, when advances in science allowed researchers to understand how certain abnormalities in genetic sequences were associated with certain genetic disorders. In this article, the writer examines the field of genetic testing and questions the extent of its effectiveness in not only identifying potential genetic disorders but also in its ability to actually give patients and their children a better chance at a normal and healthy life.
Medical advances in the field of genetics has led to a greater number of genetic testing options for parents over the past few decades. Starting in the early nineties, the average age that women carry children has risen, leading to greater chances of complications and risks with pregnancy. As scientists have learned more about genetic disorders and the gene sequences that are associated with them, genetic testing has become more commonplace. However, there are questions as to whether or not genetic testing is actually worth the price and effort. While the costs of genetic tests has gone down, the number of specific tests performed at birth has risen. Diseases tested for are relatively rare, and despite advances in testing methods and interpretation, results can still be inconclusive or negative, even when a disorder is present. In addition, when tested babies are found to have genes indicative of a genetic disorder, there is the issue of how to 1) explain the issues to the parent and 2) assist both the child and parents with the challenges they may face later in life.
Pollock brings up many important points in his article – the limitations of genetic tests, the probability of error, and the costs of the tests versus the benefit to the patients. The medical field is constantly attempting to diagnose illness and disorders more effectively and at a younger age, with the idea being the sooner a disorder is diagnosed the sooner treatment can begin. However, the chasm that exists between diagnosis and treatment is fairly large when it comes to genetic disorders. This is especially true when infants are diagnosed with an illness that manifests many years later in life, and whose physical symptoms could be anywhere from mild to severe.
One point that Pollock mentions but fails to go into in depth is the effects of genetic testing on a persons health record and their ability to procure such services as health insurance later in life. If an unfavorable genetic marker is found at birth and the result goes on their medical record, this could prevent them from receiving health insurance due to a pre-existing condition, whether or not the actual disorder ever manifests in a severe or debilitating form. Genetic testing at birth is done without the patients consent, yet it could affect them later on in life. There is a great question of privacy and patient privileges here that is not addressed within the scope of this article.
THis article does an excellent job of presenting the basic issues surrounding genetic testing and calling into question its real value, especially when administered to newborn children. While the field of genetic testing offers great potential for identifying underlying genetic disorders, it fails, at this level, to offer any real benefits to many patients whose tests may indicate a potential disorder that has yet to manifest. Genetic disorders – their causes, manifestations, and epidemiology – are still poorly understood by the medical field. In the future, as our understanding of genes and DNA continues to increase, genetic testing may become a more viable and important field. At this point, however, its effectiveness and benefits for society at large are still questionable.
- Pollock, Harold. (2010) Is genetic tesing right for your family? The American Prospect 21(9), 21-24.