Genetic Disease Diagnosis, Screening and Treatment


The developments in the genetic technology has permeated the healthcare industry and affected the way nurses deliver healthcare services. Nurses have been able to integrate the genetic knowledge in the execution of their duties. The integration of genetic knowledge into the delivery of healthcare services has been widely accepted in the management and treatment of genetic disorders. This paper examines the case study provided that concerns a couple who are expecting a child that has been inflicted with Tay-Sachs disease. The paper provides a critical analysis of the case study provided, creates a teaching plan and elaborates on ethical issues in respect to the personal genetic information.

Analysis of the case study information

In the case study provided, it has been identified that the Trosacks are split between accepting and denying their condition. When they learnt about their child’s condition, the couple was shocked and could not easily accept the situation. It seems they have little knowledge about the Tay-Sachs disease. This is because Rita blames herself for the condition by asserting that it was triggered by her getting involved in excessive work. On the other hand, Peter is in denial and refuses to accept the results of the test. He holds that the test results are wrong.

As a case manager, it is advisable to formulate a team that will help the couple in the management of the situation. In this respect, several members of an interdisciplinary team must be formed to provide information that will assist the Trosacks in recovering from the situation. The team that will be formulated will include the physician, a counselor, a dietician, a church leader, and family members. This team will be critical in providing information that can assist the couple in accepting their situation and living positively.

The physician was included in the team to provide medical analysis of Tay-Sachs disease. This is critical in making the couple understand their situation. The physician was also important as he or she will offer the appropriate prescription of the medication in the management of the condition. A counselor was included in the team to talk to the couple and make them accept the situation and be able to live positively. A dietician was also necessary as he or she will advice on the best diet for Rita during and after pregnancy. This is because Tay-Sachs disease is not curable, but can be managed through proper diet. A religious leader was included in the team for moral and spiritual support to the couple. It is noted that the couple has a Catholic background and they are not regarding abortion as an option in resolving their situation. Therefore, a church leader will prove critical at this time of making hard decisions. Lastly, family members are included in the team to provide moral support. The couple seems to have been emotionally distracted from the realization that their child has been affected by the Tay-Sachs disease. Thus, they need a lot of support from the close family members.

Teaching plan for the Trosacks

In respect to genetic diagnosis, it can be noted that Tay-Sachs disease is a neurological, genetic disease. Tay-Sachs disease is a rare condition that is mainly prevalent among people from Eastern Europe. The Ashkenazi Jewish individuals have been identified as the most prone to the Tay-Sachs disease. People suffering from Tay-Sachs disease have a deficiency in hexosaminidase A (Hex A). This protein is critical in breaking down gangliosides which accumulates in nerve cells, particularly in the brain to cause the disease (Kustermann-Kuhn & Harzer, 1983).

The disease is triggered by a malformed gene found on chromosome 15. It has been noted that Tay-Sachs disease affects the children of recessive parents with the Tay-Sachs genes (Hansis & Grifo, 2001). The child from such couples has one out of four chance of developing the disease. In this case, the child has to inherit two strands of the defective genes from both parents. This disease is thus hereditary since individuals who are carriers do not show symptoms of the disease. Nonetheless, carriers are only able to pass the defective gene to their off springs. An inheritance of the deformed genes from both parents leads to the development of the disorder (Desnick & Kaback, 2001).

The Tay-Sachs disease does not have outright treatment. Nonetheless, the condition can be managed by making the patient comfortable. In this case, the treatment centers on having control over the symptoms of the disease. Treatments will thus include medication and lifestyle and care issues. There are various medications that are used in the treatment of the disease. Proper feeding and nutrition is important in treating the disease. Patients suffering from Tay-Sachs disease have difficulties in feeding. Necessary steps must be used to ensure that these individuals get the necessary nutrition. The other treatment for the disease involves proper hydration. This is because these patients are at a great risk of dehydration (O’Brien, Okada, Chen & Fillerup, 1970).

Tay-Sachs disease has no cure. Irrespective of the treatment that may be adopted, the patient will end up dying at an early age. In children, the disease causes death by the age of four years. This is facilitated by a series of recurring infections. Support groups play a critical role in the management of the disease. These groups are formed by individuals who are directly or indirectly affected by the disease. Here, members offer support and encouragement to each other through sharing of their experiences. Some of the support groups include the Genetics and Birth Defects Support Group, the national Tay-Sachs and Allied Diseases Association, Infant Health Group, and the National Organization for rare Disorder among others. There are also referrals that can play a critical role in the management of the disease. Such referrals include the Mayo Clinic that has vast experience in handling patients suffering from this condition (Johnston, 2007).

During pregnancy, the expectant mothers should have tests regarding the condition of their babies. If the test reveals the absence of Hex A, the child is likely to have the disease. When the pregnancy is about 10-12 weeks, the pregnant mother can undergo the chorionic villus sampling (CVS) to determine the diagnosis of the condition. When the pregnancy gets to 15-18 weeks, the expectant mother can undergo the amniocentesis aimed at testing the presence of the Tay-Sachs gene. Therefore, it is possible for a pregnant mother to test for the presence of the Tay-Sachs disease of the child while still in the womb. The child can only get the disease if both parents are carriers of the disease. Therefore, it can be noted that children from such couples have a one out of four chance to get the disease (Appleton, Gaffney, McGeary & Nicolaides, 1975).

Ethical implications

There are various ethical issues related to genetic aspects involving human beings. One of the ethical issues raised is in respect to the privacy of an individual. People have a right to privacy and thus making an inquiry into their genetic background can be seen as an invasion of privacy. The concept of privacy and confidentiality is very dear to individuals. This brings out the question of the one responsible for controlling the genetic information. This information should be handled with great care to avoid ethical issues arising due to breach of privacy and confidentiality of the patient. There is also the issue of stigmatization and psychological impact that stems from the variations in the genetic compositions of individuals. Individuals have different genetic compositions that can be used to categorize them differently. Such information can lead to isolation of the individual by the society. For instance, the carriers of a certain disease can be isolated from the mainstream society due to their genetic composition. Such individuals may find it difficult to form social relationships with other members of the society when their genetic make up is exposed.

The other ethical issue related to the exposure of an individual’s genetic make up will touch on reproductive issues. This is especially when the genetic information is used in making critical decisions on reproduction. Genetic information can be used to make critical decisions such as the need to have an abortion. This raises a lot of controversy especially when the reproductive rights are invoked. In the first place, there should be informed consent from the individual before genetic tests are taken. Nonetheless, a controversy arises when the tests are carried out on the fetus (Jenkins, 2001).

A short reflection paper

In regard to the case provided, the Trosacks were not willing to have an abortion. Therefore, Rita was ready to carry the pregnancy to full term. I think the decision was informed by their religious background where life is highly valued. Nonetheless, I do not agree with their decision as the infection means that the child will not be able to live beyond four to five years. In this case, the couple could have opted for an abortion so that they try conceiving another child. In advocating for the decision taken by the couple, I can argue that they are pro-lifers. In this regard, they were not willing to do anything that would lead to termination of a life. Therefore, they opted to continue with the pregnancy. The couple has a religious background where they subscribe to the Catholic faith. The Catholics are known on their hard line stance on abortion, and that could be one of the reasons as to why it was not an option in their case.

Notably, ethical and legal considerations affected the decision that was made by the couple. In regard to ethical consideration, the couple decided to continue with the pregnancy to avoid terminating a life. Life is often considered sacred and only God has the power to end it. In this respect, abortion would have amounted to murder. On the legal front, abortion has been prohibited unless it endangers the life of the mother. In this case, the mother’s life was not at risk. Thus, executing an abortion would have amounted to a crime. Therefore, the couple was obliged to abide to the legal provisions.


Appleton, D.B., Gaffney, T.J., McGeary, H., & Nicolaides, N.J. (1975). Tay Sachs disease in a child and management of a subsequent pregnancy. Proc Aust Assoc Neurol, 12: 129-33.

Desnick, R. & Kaback, M.M. (2001). Tay-Sachs Disease. San Diego, CA: Academic.

Hansis, C. & Grifo, J. (2001). Tay-Sachs disease and preimplantation genetic diagnosis. Adv Genet. 44: 311-5.

Jenkins, J., (2001). Ethics: Ethical Implications of Genetic Information. Web.

Johnston, M.V. (2007). Neurodegenerative Disorders of Childhood. In R.M. Kliegman, R.E. Behrman, H.B. Jenson, & B.F. Stanton. Nelson Textbook of Pediatrics. 18th Ed. Philadelphia, Pa: Saunders Elsevier.

Kustermann-Kuhn, B. & Harzer, K. (1983). Prenatal diagnosis of Tay-Sachs disease. Reflectometry of hexosaminidase A, B, and C/S bands on zymograms. Human Genetics, 65(2): 172-5.

O’Brien, J.S., Okada, S., Chen, A., & Fillerup, D.L. (1970). Tay–Sachs disease: Detection of heterozygotes and homozygotes by serum hexaminidase assay. New England Journal of Medicine, 283(1): 15–20.

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