Genetics Case Study

Pages: 9 (2558 words)  ·  Bibliography Sources: 9  ·  File: .docx  ·  Level: Master's  ·  Topic: Genetics


Whereas genetic testing performed in a clinical diagnostic laboratory is subject to strict quality control criteria including results that are available in a timely fashion, this often is different for research gene testing, and reports of results may be obtained after months to years or even never. Details of these differences need to be thoroughly explained to the patient before any testing is requested.

Any research protocol on new diagnostic or therapeutic strategies involving human subjects needs approval by the Institutional Review Board (IRB) to assess the benefits and risks associated with the study. These reviews address the ethical principles of human research.


The principle of justice relates to whether an individual is treated fairly and equitably in the context of society.

Discrimination. The term Discrimination used in the context of genetic testing refers to the persistent public concern of potential loss of privacy and resulting insurance or employment discrimination. This is mainly based on a fear of losing insurance, specifically with regards to health, life, and disability insurance, and/or fear of unemployment, although there is not much evidence of its dimension. This view has strongly influenced people's decisions toward avoiding genetic testing, in particular in individuals who fear being labeled with a "preexisting condition" that potentially could place them at an increased risk of being denied health care coverage.Download full Download Microsoft Word File
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TOPIC: Case Study on Genetics Case Study Genetic Case Assignment

Following a few reported cases of employers and insurers using genetic information to discriminate, an increasing number of states have implemented laws to restrict health insurers' and employers' misuse of genetic information. The Health Insurance Portability and Accountability Act of 1996 was one of the first steps toward implementation of federal policy recommendations on health insurance and provided some protection from discrimination. Similarly, protection from employment discrimination has been addressed by the Equal Employment Opportunities Commission based on the Americans with Disabilities Act, although additional federal legislation is required for better protection. In October 2003, the U.S. Senate passed the Genetic Information Nondiscrimination Act of 2003. It is now hoped that the U.S. House of Representatives will approve this act as soon as possible.

Interestingly, the implementation of laws does not appear to have significantly reduced the fear of discrimination among patients and physicians, and a great deal of uncertainty still remains. This is despite reports that underscore that fears of insurance discrimination seem to be greater than reality.

Equitable Access to Resources. With the availability of an increasing number of genetic tests, additional concerns have arisen regarding equitable access to these tests. Although many insurance companies are covering all or a portion of genetic testing when determined to be medically indicated, "genetic testing exclusions" and denial of coverage for genetic testing because it is perceived as being "investigative or research" are still common. This, in addition to the significant number of individuals who have no health insurance whatsoever, leads to many people feeling as though genetic testing is out of their reach. With an increasing awareness of the utility of genetic testing, it is hoped that health insurers will more readily provide coverage for such testing. Furthermore, it is hoped that with additional legislation, fewer individuals will be without adequate health insurance, thus increasing the number of people with access to genetic testing.


In the context of Trosack's case and genetic testing, the first thing I would suggest is to exhort them not to blame themselves for the outcome of the prenatal testing. A positive genetic test is not anybody's fault and is a matter of genetic inheritance. The geneticist and genetic counselor should emphasize this. The genetic counselor should also make them aware that since they had grandparents who had sons and daughters die of unknown causes, the possibility of Tay-Sachs is present. The studies suggest that patients with Irish and Polish ancestry are at risk for Tay-Sach disease: 1/25 for Irish-Americans and 3.27% for Polish-Americans.

In terms of their decision not to terminate the pregnancy and have the child for religious reasons, the Trosacks should realize the implications and consequences of their decision. I do not necessarily agree with it. Once the child is born, it will be afflicted with a deadly neurological disease. They should also realize that insurance companies might discriminate against them and not cover their expenses prenatally and postnatally. They should also realize that there are confidentiality and privacy issues. While they are entitled to keep their diagnosis from genetic testing private, they should also be aware that other pertinent family members are entitled to know about the risk of passing Tay-Sachs in the family. Cousins, brothers, sisters, nieces and nephews may want to know this information resulting from the genetic testing. They may even have a legal right to know and it is incumbent upon the health care team to stress this to the Trosacks and quite possibly intervene. However since it was a challenge to conceive, I understand the Trosack's decision.

As the nurse in the clinic responsible for handling the case, I would strongly suggest pre-implantation genetic diagnosis for subsequent pregnancies. Pre-implantation genetic diagnosis involves a procedure in which in vitro fertilization takes place, and the embryos resulting from in vitro fertilizaton are genetically diagnosed (through polymerase chain reaction) for the mutant allele (in this case the recessive allele that causes Tay Sachs disease). The embryos with the allele are discarded and those that do not harbor the gene are implanted back into the women's utero. This would prevent the Tay Sachs gene from being present in subsequent embryos, and hence the fetus would not test positive for the disease upon prenatal testing. The Trosacks should be made aware that this procedure is possible, however with its attendant risks.

Works Cited

Branda, K.J., Tomczak, J. And Natowicz, M.(2004) "Heterozygosity for Tay-Sachs and Sandhoff Diseases in Non-Jewish-Americans with Ancestry from Ireland, Great Britain, or Italy." Genetic Testing 8: 174-180.

Ensenauer, R, Michels, V and Reinke S. (2005) "Genetic Testing: Practical, Ethical, and Counseling Considerations." Mayo Clin Proc. 80(1):63-73.

Gravel, R.A., Kabak, M.M., Proia, R.L., Sandhoff, K., and Suzuki, K. (2001). "The GM2 gangliosidoses." In The Metabolic and Molecular Bases of Inherited Disease, 8th ed.

C.R. Scriver, A.L. Beaudet, W.S. Sly, and D. Valle (eds.). McGraw- Hill, New York, vol. 1, pp. 3827-3876.

Petersen GM, Rotter JI, Cantor RM, Field LL, Greenwald S, Lim JS, Roy C, Schoenfeld… [END OF PREVIEW] . . . READ MORE

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APA Style

Genetics.  (2011, March 8).  Retrieved September 18, 2021, from

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"Genetics."  8 March 2011.  Web.  18 September 2021. <>.

Chicago Style

"Genetics."  March 8, 2011.  Accessed September 18, 2021.