Genetic testing refers to lab tests done on blood or tissue samples, which provides information about chromosomes, genes, and proteins and indicates if there are abnormalities in the individual being tested. These types of tests are conducted to elicit information for a multitude of issues including: genetic disorders in unborn fetuses, presence of a gene for a hereditary disorder in adults thereby making that individual a carrier of the disorder, and confirmation that symptoms are a result of a genetic disease. Perhaps the most ethically controversial area of genetic testing is pre-natal testing, and therefore will be the area explored in this blog entry. The controversy: as genetic testing becomes more widely used and more precise (thus providing more detailed information about the genome being assessed), there are ethical concerns that pertain to pre-natal testing. The concern is that as more information becomes available, fetuses will be aborted for minor defects and this fuels the fear of another eugenics period occurring. Eugenics referring to the early 1900’s when force sterilization occurred to prevent undesirable traits from being passed down in the population gene pool. However, on the other hand, with correct application of pre-natal genetic testing, there is the possibility of avoiding a eugenics movement and contributing greatly to society.
Since genetic testing encompasses a wide spectrum of tests at various stages of life, this blog entry will focus specifically on pre-natal, microarray testing. The DNA microarray test places thousands of gene sequences in known locations on a gene chip, then the DNA sample is placed on the gene chip and complimentary base pairing between the sample DNA and sequenced DNA on the chip produces light that can be measured by the lab technician and thus identify genes expressed in the sample (National Human Genome Research Institute). Using this technology, patients can be diagnosed as carriers of genetic diseases.
When considering genetic testing it is important to recognize both positive and negative aspects of the argument. First, I will present opposition to the widespread use of pre-natal microarray testing. Perhaps the most compelling argument against pre-natal testing is fear of another eugenics movement. This fear stems from the idea that if taken too far, parents will begin to view the fetus as undesirable if it carries certain genes and the fetus will then be aborted, leading to elimination of certain “types” of people from society. Some argue that in deciding to test a fetus early in pregnancy and then deciding to abort it if it has a genetic disease is somewhat like playing God and placing the degree of value on various human lives. The argument follows that if we begin testing for genetic diseases we will eventually be testing for more desirable traits, like a specific hair color, or level of intelligence, and therefore eliminate certain characteristics from our society. I argue that this is a slippery slope fallacy in which we assume that there will be no checks and balances to prevent such a disastrous outcome, and that the purpose now for the testing is to be able to inform parents so that they will be able to make a responsible decision. With the information they can prepare for a baby that may have a genetic disease or choose to terminate the pregnancy if they are unable to commit to that responsibility.
Another valid concern is that the information provided by genetic testing is too complicated, misinterpreted by doctors, and not accurately conveyed to the parents. To this argument I acknowledge that detailed explanations to the parents are necessary so as to avoid unnecessary stress and anxiety. However, genetic counselors are present to translate the information from the test to the patients and to ensure that the information is understood; both prior to administering any test and once the results are available. The microarray test is quite detailed and provides information for over 200 genetic disorders, but its design provides results that are easier to read and interpret than most other genetic tests available, so this test would provide more information and less misinterpretation of results.
Some of the arguments against genetic testing are eliminated in using the DNA microarray test. This test detects more submicroscopic abnormalities that other genetic tests are unable to detect, thus being more thorough and eliminating the need for multiple tests to be run. This test is also safer, faster and more accurate than amniocentesis, which is a concern for many mothers. Microarray is non-invasive, so there is no concern with harming the baby or the mother. Also, this test can be performed earlier in the pregnancy than many other tests, so the parents can prepare for the child with the disorder or decide to terminate the pregnancy earlier. Although this test is somewhat costly because it is relatively new, as it becomes more commonly administered the cost should decrease and if genetic testing becomes more widespread it is likely that it will be covered by insurance. Therefore, while cost of the test is a present concern, it should be less of an issue in the future.
The concerns and fears presented here are not unreasonable, but I would argue that the benefits of pre-natal genetic testing outweigh the cons. And, as mentioned earlier, the DNA microarray test is particularly useful in genetic investigations because it does test for so many disorders in a short amount of time. The most obvious benefit to being tested is to be able to plan. If a fetus is diagnosed with a genetic disorder the parent can plan how to best care for the child once it is born and not be shocked in the delivery room (or perhaps later in the child’s life if it is not diagnosed for a few years). Genetic testing also provides peace of mind for some parents who know a hereditary disease runs in his/her family; to be able to determine if his/her child has the disease earlier provides some comfort. Again, it is important for the parents to know their choice in taking the test or not, because some would prefer to not know prior to birth. With the knowledge early in the pregnancy parents can make responsible choices if they are not able to care for a child that will have the limitations caused by the genetic disease. This means that the parents could choose to find alternate care for the child when it is born, change their lifestyles so they can provide the best care for the child when it is born, or choose to terminate the pregnancy if necessary. While termination of the pregnancy may seem cruel, it is the right of the parents to make that decision and if they know the child will not receive adequate care or the child will suffer terribly from the disease, it may be in their best interest to consider the option. Ultimately, the value in pre-natal genetic testing is to provide information to parents and allow them to make decisions prior to birth, which may have a significant impact on the lives of that family. Microarray testing provides a safer, more accurate, faster method for pre-natal genetic testing and is a valuable option if genetic testing is going to continue to be utilized.
References
Collier, R. (March 31, 2009). Prenatal DNA test raises both hopes and worries. Canadian Medical Association Journal. 180 (7): 705-706. PubMed.
Guay-Woodford, LM, Knoers, NV. (July 2009). Genetic testing: considerations for pediatric nephrologists. Semin. Nephrol. 29(4): 338-348.
U.S. National Library of Medicine and National Institute of Health. MedlinePlus: Genetic Testing. (April 2010). Retrieved from: http://www.nlm.nih.gov/medlineplus/genetictesting.html
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