Pros and Cons of Presymptomatic Testing of Genetic Disease - Essay Example

4 May Pros and Cons of Pre - symptomatic Testing of Genetic Disease Introduction Advances in medical science have proved that genes play a vital role in determination of health of a person. They are important in hindering diseases as well as ensuring an individual is healthy. Medical practitioners and professionals are faced by issues involved in the application of techniques that have been developed in genetic testing. These issues constitute the debate around genetic testing. Genetic testing has become a vital tool for disease determination and management (Jenkins and Lea, 70).The field of genetic testing has grown to include many forms of testing such as diagnostic testing, newborn screening, prenatal testing, carrier testing, pre - implantation testing, forensic testing, pre – symptomatic and predictive testing. This paper looks at pre – symptomatic testing. In particular, its pros and cons. Pre – symptomatic testing is utilized to check for gene mutations that are connected with disorders that express themselves before birth and mainly in latter life. It helps in evaluating if a person will have a genetic disorder later in life even without the presence of symptoms. There are many issues surrounding genetic testing. These issues include psychosocial issues such as how persons can handle new genetic diagnosis, if to let family members know the outcomes of the test and confidentiality of the results. Cultural, religious, ethical, scientific, and family issues determine how genetic testing is utilized in a society. A case example is given by Lashley (93) of Brandi who is aged twenty two years old. She visits a clinic believing that Huntington disease led to the death of her paternal grandmother. She provided care for her grandmother until she could no longer do it and had to be transferred to a nursing care centre. As of now, she is about to get married and she wants to know if she carries the mutant gene for Huntington disease. Her forty year old father does not want to know if he carries the gene. As a result, her grandmother’s condition has to be verified to know if the gene runs in the family. From this case, an issue arises; this issue is the economic aspect of genetic testing. The technology involved in genetic testing does not come cheap. It has been the result of years of evolvement and development. The research input and investment has been massive especially in the so called developed countries such as USA. As a result, genetic testing procedures such as pre – symptomatic testing for Huntington disease is not affordable to everyone. Many of those who are not well endowed financially but face the risk of been victims of such genetic disorders cannot have the test; this brings about the issue of discrimination. Discrimination based on economic capability. If only those who are financially endowed can afford pre – symptomatic testing, isn’t it discriminative? Yes it is. It reached a point where Brandi could no longer take care of her grandmother, this showed that it is possible to undertake pre – symptomatic testing, however, if one does not have the financial capability to mitigate the effects of the genetic condition, then it results into financial stress. Pre – symptomatic testing avails a platform for discrimination which is against the very basic principles of the constitution. People cannot be discriminated against, whether directly or indirectly through whatever means or basis. This aspect is against the test (Lashley, 93). Another issue arising from the case is the family issue. Is it right for offspring to know their genetic status especially one that involves conditions that cannot be cured but only managed? The search for the cure and treatment of genetic conditions like Huntington disease has been ongoing for a long time. Up to now, only the gene associated with the Huntington disease has been discovered. This was done by Nancy Wexler and her colleagues in Venezuela. Wexler’s mother was diagnosed with the condition which led to Wexler’s interest in the disease. Wexler describes her family and their struggle with testing issues (Smith, 5). The issue here as in Brandi’s case is that of whether it is right for children to know of the condition they are suffering or may suffer from like Huntington disease. Brandi’s father refuses to be checked for the condition. This is a depiction of a family issue with Brandi wanting to know if she carries the mutant gene. The issue of children wanting to know their genetic status is vital because it prepares them for the future. It opens up the possibilities ahead of them and helps them prepare for future eventualities. In this case, Brandi is a child to a father from a family suspected of having Huntington disease among its generations. She is about to get married. If she knows her status regarding the genetic condition, then, several issues regarding her marriage and family can be resolved. Will she chose to have children or will she choose to remain without children? Will she go on with her planned marriage or not? If she gets married, will she have her partner undergo pre – symptomatic testing or not? If she does get married after diagnosis of Huntington disease, will she choose to utilize techniques that can prevent passage of the gene to her offspring? These are all family issues which pre – symptomatic testing can help resolve hence supports the test. If Brandi is tested and knows her status concerning the genetic condition, she will be able to manage her family issues in the way she deems it right. This is an important aspect of pre – symptomatic testing which should not be disregarded (King, Rotter and Motulsky, 94). Looking at Brandi’s case, her father did not want to have the test. The issue here is that it is necessary to test a family member in tandem with testing her for Huntington disease. The family member available is her father who has refused to undergo the test. It remains with her grandmother who passed on. This raises an ethical aspect to the testing. Is it ethical for pre –symptomatic testing to be undertaken on a dead individual so as to confirming a genetic condition? Brandi suspects the condition runs in her family and wishes to have pre – symptomatic testing to evaluate her genetic status without even showing symptoms. The benefits are there while there are also risks. The risks include guilt and stress. It may be that her father refuses to undertake the test as he is weary of been guilty of been the cause of her daughters condition if she is diagnosed with the genetic mutation. As a result, there is an ethical dilemma on how to mitigate the risks of pre –symptomatic testing. If her late grandmother is tested and found to have or not to have the genetic mutation responsible for Huntington disease, shall it serve justice? Shall it be beneficial? Shall it be moral to undertake the test on a dead individual? Is it autonomous? (Coustasse, Pekar, Sikula and Lurie, 130). These ethical issues have to be considered and evaluated if the test can or cannot be carried out. The issue of justice stated in the ethical aspect of pre – symptomatic diagnosis gives rise to another aspect of this test that is the religious aspect. This aspect is highly debatable and raises more questions rather than answers. As such, it is mainly against the test. Smith and Cohen (48), state that pre – symptomatic testing is criticized as it allows to “play God.” Based on our case study, if Brandi is diagnosed with Huntington disease causing gene, she may then make a decision to go on with the marriage, but then undergo genetic testing to select for a child without the gene. Is this a form of manmade creation? Taking a broader perspective where couples are diagnosed with the mutant gene chooses to have genetic testing in order to select for offspring without the mutant gene, it can lead to a society where children are no longer regarded as God’s gift but modified beings similar to any material thing. This is the negative result of pre – symptomatic testing. However, it is a religious responsibility to procreate. Not only procreate, but procreate responsibly. Pre – symptomatic testing allows for responsible procreation. These are religious aspects that pre – symptomatic testing leads to. Religion is highly connected to culture. Pre – symptomatic testing has cultural aspects associated to it. Various cultures may not permit for such testing that dwells into the status of a child to be. If the society in which Brandi resides in has a culture that does not allow for the test. Undertaking the test in such a test in that cultural aspect will be considered as morally wrong. Many cultures around the world have their beliefs which are deeply rooted into their practices. Some beliefs are prohibitive. This raises issues when it comes to genetic tests such as pre – symptomatic testing. What is needed in such cultures is the incorporation of counseling (Westman, 81). Genetic counseling is vital to inform them on the benefits and risks of the tests. It may be that the culture is inadequately informed which results in issues when it comes to genetic tests. Genetic testing is a valuable tool as well as a risky one. For one, from the information garnered and discussed, it shows that it provides vital information which has the capability to help individuals make life changing decisions as depicted in Brandi’s case, helping an individual in decision making results in an overall effect on the society. It can alter cultural beliefs as well as reproductive choices connected to religious ideas of procreation. However, it is not all about benefits that support the testing as there are other aspects that are against pre – symptomatic testing. These aspects as described include ethical aspects and religious aspects based on godliness. The aspects for and against pre – symptomatic testing are there in equal measure. Hence, it is up to the individual and health professional to weigh the best option. Works Cited Coustasse, Alberto, Alicia Pekar, Andrew Sikula and Sue Lurie. Ethical considerations of genetic pre - symptomatic testing for Huntington’s disease. Journal of Hospital Marketing & Public Relations, 19.2 (2009): 129 – 141. Web. 4 May 2014. Jenkins, Jean and Dale Lea. Nursing Care in the Genomic Era: A Case based Approach. Jones & Bartlett Learning, 2005. Print. King, Richard, Jerome Rotter and Arno Motulsky. The Genetic Basis of Common Diseases. 2nd ed. Oxford University Press, 2002. Print. Lashley, Felissa. Essentials of Clinical Genetics in Nursing Practice. Springer Publishing Company, 2006. Print. Smith, David & Cynthia Cohen. A Christian Response to the New Genetics: Religious, Ethical, and Social Issues. Rowman & Littlefield, 2003. Print. Smith, David. Early Warning: Cases and Ethical Guidance for Presymptomatic Testing in Genetic Diseases. Indiana University Press, 1998. Print. Westman, Judith. Medical Genetics for the Modern Clinician. Lippincott Williams & Wilkins, 2006. Print. . Read More