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Advanced Diagnostic Procedures: Genetic Screening Pros and Cons Research Paper

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Updated: Jun 25th, 2020


In the past few decades, inventions and breakthrough scientific discoveries in the biological field have resulted in the prevalence of access to sophisticated equipment and advanced diagnostic procedures. One of these technological advancements has been in the form of genetic screening, which is the ability to determine the presence of a genetic marker for a specific disease or condition. This testing is especially significant in light of research estimates, which approximate that 1 in every 20 newborns in America is born with a severe disorder that is presumed to be genetic in origin (Pillitteri, 2009).

Genetic testing offers a way of forecasting some diseases and thereby equipping people with knowledge as to any genetic mishap and thereby affording them a chance to undertake some preventive measure in anticipation. Unlike most other medical technologies, genetic screening has an inescapable effect on not only an individual but also their families and the society at large. It is with these considerations that this paper shall set out to look at the merits and demerits of genetic screening so as to authoritatively state if the genetic screening is worthwhile to the individual.

Pros of Genetic Screening

The healthcare system is slowly moving towards the prevention of diseases rather than relying on the traditional fire-fighting habits of treating diseases once they occur. Genetic screening plays a preventive role in cases whereby a person tests positive for a disease gene e.g., cancer. Based on these findings, the person may take steps to avoid the diseases ever developing or mitigate their advancement. Bettina and Dunn (2001) state that the discovery of genetic markers for Huntington’s disease enabled doctors to use linkage analysis to identify currently unaffected carriers, thereby helping cope with the disease. As such, it can be contended that screening gives a person a better chance of survival than would be the case if the presence of a genetic defect was not known beforehand.

Genetic screening leads to the making of sound decisions by parties based on the findings presented by the tests. For example, decisions such as not to have babies, preventive care, or abortions can be made on screening results. Many couples envision starting up a family of their own, and they look forward to having healthy children who will be devoid of all but the common ailments. However, there is always the doubt as to whether their children may have some inheritable disease, which would render them disabled in some way.

Genetic testing (prenatal testing) can help ease the heart and mind of such people by giving them information as to the likelihood of their baby suffering from any gene disorder (Boskey, 2007). From the results, couples can decide to terminate a pregnancy or even not have babies at all. While the reaction that such findings can have on people is varied, it is commonly agreed that counseling is provided both before and after the test to help prepare one for what may be discovered as with dealing with the results.

In some cases, genetic testing may be necessitated by employers who dictate that their employees undertake genetic tests as part of the company policy. Initially, it was feared that this testing was aimed at giving results that would help in the screening for people who were genetically predisposed to certain occupational illnesses. However, it has been argued that employers may want to know the employees status so as to help with insurance policies and medical benefits. Susceptibility to some conditions can also be highlighted by these tests hence enabling the employer to place the employee properly. Furthermore, Brent (2000) observes that in states where genetic screening is allowed to employers, the law dictates that no employment decisions can be made on the basis of the results.

Cons of Genetic Screening

The major problem associated with genetic testing is that they rarely give a definitive answer, especially when one is seeking answers as to the likelihood of their children having some inheritable diseases (Boskey, 2007). In the case of couples who are expecting a baby, at best, the tests just let them know how likely they are to have a child with the disease. This notion is further reinforced by Jonsen, Veatch, and Leroy (1999), who argue that in some instances, the presence of markers showing genetic alteration might only indicate susceptibility for a certain disease and not the certainty of the disease. This means that the carrier to whom this knowledge has been given may end up making drastic decisions e.g., deciding not to have a baby, while in reality, he/she would have had a healthy baby had he chosen to. From this, it can be strongly suggested that genetic testing does more harm than good since it is probabilistic in nature.

The results from genetic screening have been known to result in increased anxiety levels as well as suicidal tendencies in some people. This is because some of the results of genetic testing can indicate the presence of incurable diseases that a person had no idea or beforehand. While research does indicate that patients have higher anxiety and depression levels before genetic testing, this does not discount the presence of a small number of patients who exhibit high levels of stress and disturbance after the results of the genetic testing. As such, Bettina and Dunn (2001) argue that genetic have less influence on emotional distress; however, the authors concede that suicidal tendencies spring from other social and economic issues and the presence of any disorder may just act as a trigger to an already volatile situation which would have boiled over at some other time in life.


This paper set out to discuss the pros and cons of genetic screening so as to provide a stand as to whether this practice should be encouraged. From the arguments presented in this paper, it is evident that genetic screening is hugely beneficial as it can lead to better decision making as well as preventive measures where genetic anomalies are discovered. While there exist risks associated with the practice e.g., psychological distress, measures such as pre and post-test counseling can reduce the negative effects that genetic screening can have. The increase in the perceived gains of genetic testing has resulted in it being considered as an essential part of the health care system, and future prospects are that it will be a fundamental component in medicine.


Bettina, M. & Dunn, S. (2001) Psychological effect of genetic testing for Huntington’s disease. American Journal of Medical Genetics, 48, 137–144.

Boskey, E. (2007). America Debates Genetic DNA Testing” New York: The Rosen Publishing Group.

Brent, N, J. (2000). Nurses and the Law: a Guide to Principles and Applications. 2nd ed. Elsevier Health Sciences.

Jonse, A, R., Veatch, R. M. & LeRoy, W. (1998). Sourcebook in Bioethics. Georgetown: Georgetown University Press.

Pillitteri, A. (2009). Maternal and Child Health Nursing: Care of the Childbearing and Childrearing Family. 6th edn. USA: Lippincott Williams & Wilkins.

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