Genetic testing is a scientific process in which an individual’s DNA can be screened for mutations or variations that may cause certain diseases or dysfunctions. It is my opinion that standard genetic testing for disease or the predisposition to disease is purely beneficial. Having clear answers as to whether or not a person may carry a higher risk for some diseases may in fact save their life, or the lives of their current or future children. However, over the years of development of the science, more and more controversial types of testing have developed. In this paper, the science of genetic testing will be introduced by going through a brief history, the different types of genetic testing available, as well as the controversies that surround them. History Genetic testing had a very positive and productive start. The first usage of Genetic Testing occurred over half a century ago, beginning with the testing of infants for PKU, or Phenylketonuria, “an inborn error of metabolism in which an amino acid buildup in the blood causes mental retardation.” (Lewis) To test infants, a drop of blood was taken from their heel while at the hospital after birth. If a child was found positive for PKU, dietary treatment was used to prevent loss of brain function. Testing was reliable and results were accurate. The disease being tested for was easily treatable, and every child that came through was tested without a problem. (Lewis) In the 1970’s, doctors began the process of testing individuals for sickle cell anemia and
Tay-Sachs disease. The testing for these two diseases became mandatory in twelve states. However, because of the small amount of information available to the general public, misunderstanding of test results became common. Another factor for disappointment at the time was the fact that these diseases could not be prevented, tested for before birth, or even treated once discovered. (Lewis) In 1972, Richard Nixon signed the National Sickle Cell Anemia Act, the chief provisions of which were to provide funds for screening and counseling programs, information and education activities, and research. After the act was signed, a significant amount of the prior issues faded. By the 1980’s, sickle cell anemia was treatable with antibiotics and bone marrow transplants. (Lewis) As for testing for Tay-Sachs, there were even worse results initially. Even though prenatal testing was available, the disease was so severe that no cure or treatment could be found, and all children diagnosed with Tay-Sachs died at a young age. At the time, Tay-Sachs was considered a “Jewish” disorder. And so, a group named Dor Yeshorim took matters into their own hands. “Today they test young people for several “Jewish” genetic disorders and help determine potential marital compatibility for couples, identifying carriers for the same diseases. The process is anonymous, using numbers to identify people tested, and carriers are not told what they carry. Call it eugenics or artificial selection, but the diseases have disappeared from this population” (Lewis). Since then, genetic testing has made significant improvement, and is now quite common in the field of science. Some tests and screens are now used regularly. Pregnant women are offered the option to screen their fetus for a higher risk of trisomy 21, or Down Syndrome. Cystic Fibrosis is also commonly screened for in pregnancy. Huntington’s disease is also testable for families with a history of the disease, but results are said to be “chilling in its accuracy” (Lewis) because of the implications that diagnosis carries. Today, there are these and many other forms of genetic testing available for personal health and information.
Types of Genetic Testing There are several different types, or purposes for genetic testing, a few of which will be further developed in the following paragraph. Some of these forms of testing are much more developed than others. In addition, some forms of testing are much more complicated than others in their process and what they testing for. Diagnostic testing is testing which confirms or refutes a diagnosis based on symptoms of a genetic or chromosomal condition. Persons of every age can be tested, but not all genes or diseases can be tested. This type of test commonly detects a specific gene alteration but is often not able to determine disease severity or age of onset. Newborn screening is a test performed just after birth to diagnose genetic diseases that areable to be treated at the earliest possible time. This is the most common type of testing in today’s age, since almost all infants are now screened. Now, all states test for PKU in infants as well as congenital hypothyroidism. Carrier testing identifies individuals who are carriers of diseases. This means the individual has a copy of a gene mutation that becomes a genetic disorder only when paired with another copy of the same mutation. This kind of testing lets couples as well as individuals know the likelihood that their child will be born with a genetic disease. It allows parents with the same genetic mutation (parents who are carriers) to decide if they will take the risk of having their own child, or possibly consider other options, such as adoption, if they do not want to take the chance. Predictive and pre-symptomatic testing detects genetic mutations in a person before any signs or symptoms are apparent. This kind of testing identifies a person’s chance of developing a genetic disorder. Results from this type of test are usually expressed in terms of probability and are therefore less definitive since disease susceptibility may also be influenced by other genetic factors or lifestyle choices. Forensic testing is used to identify an individual using DNA. Unlike other types of genetic testing, it is not used to determine mutations, but to find out the identity of a victim, suspect, or even a paternity test in legal cases. Paternity tests are a type of genetic testing in which DNA is used to identify the father of a child. Research testing is used to advance and expand the field of genetic testing and give us more information on genes, how they work, conditions that may arise, and previously unknown genes. Results of research testing are not usually available to patients tested or their doctors, and are instead used anonymously in a research study.
Controversy
The types of genetic testing with the most ethical and moral issues surrounding them are prenatal and pre-implantation: Prenatal testing tests a fetus before birth for changes in chromosomes or genes and is available to those with a higher risk of having a baby with a disorder. Prenatal testing results are not completely reliable, and do not identify all possible inherited disorders. Pre-implantation genetic diagnosis involves in vitro fertilization. This process fertilizes eggs from the mother with sperm from the father in a laboratory, so that multiple eggs are fertilized. Once fertilized, scientists remove a few cells and test them for genetic diseases, similar to those of prenatal testing. These tests are not harmful to the growth and development of the baby or the mother, it is the decisions to be made after results return that are harmful. Pre-implantation genetic diagnosis, for example, raises the questions about whether life is formed at fertilization, and the debate as to whether or not there is a baby, a human life, at stake. Parents who participate in this type of testing must choose which of the fertilized eggs they choose to implant into the mother’s uterine wall, meaning that the others are either thrown away or frozen. Prenatal testing also raises concerns because of the rising rate of abortions based on fear. Parents who receive news that their child may very well have a life-altering or even life-threatening disease must face the decision between continuing with pregnancy or abortion. Abortion, however, is not the only ethical dispute with genetic testing. Personality genes have recently stuck themselves into the picture of science. Previously thought of as preposterous, scientists are finding evidence that certain genes are related to behavioral traits, such as happiness, longevity, and the ever-debated “cheating gene” (Walum et. al.). In the study, “Genetic Variation in the Vasopressin Receptor…” it is suggested that the Vasopressin Receptor 1a Gene is associated with pair-bonding behavior, that is, relationships. It isn’t the first, or the last, of these types of studies to be done with interesting results. Testing people for such, in my opinion ridiculous, things is dangerous. If a doctor hands a patient a diagnosis of, "Tested positive for the cheating gene," that person will not only believe this diagnosis, but may even use it as an excuse to behave a certain way. Because of the struggle that many Americans face with identity, telling them who they are based on supposed results on gene testing would absolutely cause problems with ethics as well as the general health of the public. A predisposition toward something need not be acted upon. Unfortunately, not everyone understands that actions and characteristics are a choice. It is also my opinion that a test should never influence a parent’s decision as to whether or not they will keep their child. A life of one person should never be taken simply for the ease of another. Former governor of Alaska and Vice-president candidate Sarah Palin is a prime example of this. Palin discovered early in her pregnancy that her son, Trig, would be born with Down syndrome. An article in Newsweek magazine takes a look into the life of Sarah Palin with her son. Yes, raising a child with special needs is a unique challenge, and there’s still fear about my son Trig’s future because of health and social challenges; and certainly some days are much more difficult than if I had a “normal” child. Many everyday activities like doctor’s appointments and social gatherings and travel accommodations and even mealtimes and a solid night of sleep are that much more difficult, but at the end of the day I wouldn’t trade the relative difficulties for any convenience or absence of fear. God knew what he was doing when he blessed us with Trig. (Palin). The result of a genetic test does not always fulfill the expectations that are assumed by those whom are affected. As for the genetic testing of adults for predisposition to diseases, there are fewer debates over ethical issues, but just as much concern over the patients well-being and decision-making. Robert Klitzman interviewed 64 people who have or are at risk for four different diseases with the purpose of considering the complexities of facing genetic risk and disease. Klitzman details how people confront, understand and deal with the issues that accompany the results of the tests. Genetic testing creates concerns and the need to make several decisions such as whether to hear the results and with whom. Decisions as to how, when and what to tell. There are also decisions to be made as to what, if any, treatment to take, whether or not to have children after testing, and whether or not to have unborn children tested. A person hearing the results of genetic testing runs the risk of changing how he or she views himself/herself, and can change his or her belief system. People without education on the vast variances in genetic testing and without comprehensive counseling can be overwhelmed by the information, emotion, and decisions to be made. How people react to the results varies based on individual beliefs, spirituality, personal circumstances and characteristics. Genetic testing and the range of reactions it creates is complicated, contradictory and impossible to generalize or predict. It is extremely important to understand and prepare to respond to pressures brought by family members, friends, doctors and others involved in the process. All these issues demonstrate the importance of education, counseling, and knowledge of the range of emotions, pressures, reactions and decisions prior to embarking on genetic testing. There are genetic communities that people can join, and with the increase in genetic testing, more opportunities to learn from what others have gone through. Genetic testing isn’t something to be taken lightly. The article, "Screening Screenings" by Craig Klugman deals with screening for mutated genes that can cause breast and ovarian cancer. They also indicate a higher risk for pancreatic, prostrate, laryngeal, stomach, and skin cancer. There are concerns about the reasons doctors refer patients for screening, especially when there is no family history of the disease Again, counseling must be sought out in order to make an informed decision. Genetic testing doesn’t just affect the one being tested; it concerns the entire family. If a mutated gene is detected, which parent passed it on? Should they now be tested? Have any siblings inherited the gene? Do the patient’s children need to be tested? Aunts, uncles, cousins – extended family – all need to decide whether or not to be tested. Prior to testing, a person needs to evaluate what they plan to do with the results – this is where counseling becomes so important. A patient needs to ask themselves if a test is positive, do they plan to seek treatment, change their lifestyle, or share the results with family members? In addition to these issues, the cost of testing can be prohibitive. Another concern to be considered is whether the test is worth the risk. Colonoscopies can puncture the intestines, increased radiation from mammograms can have harmful effects, and other screenings can cause adverse reactions. Education, information, counseling, discussion with family and ensuring that a person is working with an ethical doctor are of the utmost importance.
Conclusion
It is my opinion that genetic testing is a good thing for the sake of finding diseases, curing them, and knowing whether you should be careful about your lifestyle or aware of your symptoms. I find it extremely important for patients to go through proper counseling with doctors and others as to what actions must be taken before and after the results of a genetic test. Genetic testing should not be the determining factor of your survival or the survival of others, and it should never influence your ambitions. Life is meant to be lived to its fullest, not hindered by fear.