Genetic Disease Diagnosis, Screening and Treatment


Genetic technology is one of the fastest growing sectors in health care provision today. The emergence of genetic based diseases has prompted medical practitioners all over the world to put more focus on the diagnosis, screening and treatment of these conditions (Lapham & Kozma, 1996). This has been achieved through the examination of genetic products such as DNA molecules, ribonucleic acid molecules, enzymes and proteins.

Tay-Sachs disease (also called Hexosaminidase) is a rare genetic disorder characterized by progressive deterioration of mental and physical abilities of the patient as a result of the destruction of the neurons in the brain and in the spinal cord. Prognosis is vital in the management of genetic diseases as it facilitates early detection and treatment of such conditions (Grady, 1998). Prognosis also forms the basis for timely decision making increasing the victim’s chance of survival.

This paper focuses on the results of Chorionic Villus Sampling Test carried on Rita Trosack’s pre-born baby. The results from the fetus genetic indicated that it was inflicted with the Tay – Sachs disease (Fullerton & Motulsky, 1994). Mixed reactions arose from this revelation with both parents uncertain of the possible cause of their unborn child’s predicament. To help cope with such situations, possible causes of the condition as well as treatment procedures should be identified.

Information Sources

For one to gather enough information on genetic conditions, it is important that close attention be paid to the genetic trends exhibited by close relatives as well as the ancestral history and the victim’s lineage (Collins, 2000). This will assist in the collection of all the facts and establish the possible cause of the condition as well as preventive measures that should be put in place to avert the occurrence of such cases in the future. This is especially so among vulnerable individuals. Careful selection of sources of information is important to ensure a detailed survey of the situation.

Both parents are important candidates and they should be interviewed. More emphasis should be put on the medical background of each parent. Most genetic disorders are blamed on autosomal recessive patterns. Both parents must thus contribute a copy of the mutated gene for their offspring to suffer from Tay-sacks disorder (Feetham, 1999). Judging from the age of the two parents, it is evident that neither of them suffered from the condition despite the fact that both of them are carriers. Interviewing both parents will help establish the possible causes of the disorder.

The family doctor or a long serving medical officer attending to the family is also an important source of information. The physician is likely to be conversant with the family’s medical record having kept a record of the various medical reports on the family (Collins, 2000).

A medical specialist is also important in conducting the analysis. An individual with knowledge regarding Tay-Sachs will be resourceful to the study by interpreting the information gathered from the parents as well as from the doctor. Experience gained in the field by the specialist will be vital in tracing the possible cause and treatment for the disorder (Grady, 1998). The specialist is also in a position to give recommendations to mitigate the effects of the condition. The couple could also be advised on how to avoid a recurrence of the situation in future.

Teaching Plan

Early diagnosis of genetic diseases is vital in facilitating treatment and management of the condition. Early diagnosis ensures that a patient starts acquiring the necessary therapy in time (Feetham, 1999). Diagnosis involves a series of testing and screening activities. Technological advancement in the medical sector has made the process easier and has increased the ease which results can be obtained. Genetic diagnostic is aimed at detecting congenital malfunction and other chromosomal disorders.

Medical researchers are yet to establish a possible cure for the Tay – Sachs disease. Most of the victims end up succumbing to the disease by the age of four years. Only supportive health care has been devised to prolong the patient’s life such as the provision of feeding tubules. Some researchers have proposed gene therapy as a possible technique in the treatment of Tay-sachs disorder (Collins, 2000). However the process would require an entire replacement of the defective genes throughout the brain, a process that would not only be costly but rather dangerous for the patient. Substrate reduction would also help reduce the accumulation of the substrate responsible for the disorder. The Trosacks should acknowledge these facts in their decision making.

Prognosis involves predicting the outcomes of a disease. For the Tay-Sachs prognosis, a physician can predict the duration of the disease as well as the likelihood of complication in a patient (Lapham & Kozma, 1996). Death and survival rates can also be established from the results obtained from prognosis. Knowledge acquired from these findings will facilitate in Trosacks’ decision making. The survival rate and the prediction of complications can also help in the determination of the viability of the fetus. In some cases, the parents are likely to be faced with the possibility of undertaking an abortion if the case is predicted as fatal.

As a result of improved medical technology and health care services, a number of support groups and referral centers have been established to help victims cope with genetic disorders. Universities and other learning institutions have been on the forefront in the provision of these services as well as the facilitation of research. Such centers include Duke Children’s Hospital and Health Center based at Duke University Medical Center and the Rush University Medical Center based at the university (Feetham, 1999). The two institutions are known to provide a wide range of diagnostic, counseling and treatment services. Such organizations would help the Trosacks gain access to quality health care as well as provide them with the chance to meet other families suffering from the same predicament.

The use of sophisticated technology has facilitated early diagnosis of genetic disorders. The Trosacks are able to diagnose their unborn child and realize that it is infected with the Toy-Sachs disease. The disease is considered fatal and the victims die at a tender age. This raises the question as to whether they should carry on with the pregnancy or conduct an abortion (Collins, 2000). This is however a tough decision to make since the family has a religious background that discourages abortion. Social factors are also likely to play a critical role in their decision making.

Ethical Implications Regarding the Availability of Personal Genetic Information

Genetics has become an area of concern in the economy. Schools, employers and insurers have in the recent past used genetic information to help in the determination and making of key financial decisions (Lapham & Kozma, 1996). This has been the case especially in the insurance industry to determine the risk associated with insuring an individual. Persons suffering from genetic disorders tend to be disadvantaged as they attract hefty premiums.

The flow of individual genetic information has also generated debate as to who should be able to access genetic information belonging to an individual. Privacy is paramount and an individual is entitled to secrecy regarding their personal health conditions. Some organizations demand medical reports from their employees and clients raising the question as to why and when an individual’s genetic information should be accessed by third parties (Grady, 1998). It should however be noted that availing genetic information is likely to help the organizations acquire full knowledge on the individual thus putting into place measures ensuring the comfort of such an individual.

Clinical issues have also been raised regarding the acquisition of genetic information. Parents have in the past assumed the responsibility of decision making without considering the rights of the fetus being tested. In some cases, parents have gone to the extent of carrying out an abortion (Collins, 2000). Health centers have also come under sharp criticism regarding the diagnosis of incurable diseases. Diagnosis of incurable diseases such as Tay-sachs cause anxiety among individuals thus complicating the decision making process.

Issues Arising From Genetic Information

There were mixed reactions following the discovery by the Trosacks of the condition of their unborn child. Both parents are in a state of denial. This situation may be as a result of lack of insight among the couple. Refusal to perform an abortion is justified. Religious and social belief may compel the couple to disregard the possibility of an abortion as a remedy for the situation (Lapham & Kozma, 1996). The Trosacks are also entitled to the decision since they are responsible for the safety of their fetus. The couple must however understand that the disease is as a result of genetic disorder rather than their personal mistakes.

The decision made by the parents is not favorable. The disease being incurable, chances of their fetus dying at a tender age are high. Despite the many legal and religious hurdles facing the couple, the decision as to the next course of action depends entirely on them and the society is bound to respect it (Feetham, 1999). The couple however has the right to maintain their position since they are responsible for making decisions touching on the safety of the fetus. The nurse’s values and attitude towards the situation is vital. A nurse should device ways to try and explain the situation to the clients as well as leaving the responsibility of decision making to the clients as long as they possess all the relevant knowledge and skills necessary for decision making.

Human kind is defined by a set of rules and traditions. Individual decision making should put into consideration the expectations of the society (Grady, 1998). Some ethics discourage abortion with some considering the act as murder. Many nations also prohibit abortion but with the exception of genuine cases such as sickness. The Trosacks may as a result feel obliged to conform to some of these pressures thus affecting their decision making.


Genetics have become a common phenomenon in our day to day lives. Improvements made in medical technology have facilitated the detection and early treatment of many genetic disorders. Genetic information is also of great social importance especially in choosing mates. However these developments also have some negative effects. Individuals have been faced with tough decisions to make such as prospecting for divorce.


Collins, F. (2000). PCRS hosts genetics workshop. Research News & Opportunities in Science and Theology, 1(2), 5.

Feetham, S. (1999). Families and the genetic revolution: Implications for primary healthcare, education, and research. Families, Systems, & Health, 17(1), 27-43.

Fullerton, J., & Motulsky, A. (1994). Assessing genetic risks: Implications for health and social policy. Washington, DC: Institute of Medicine National Academy Press.

Grady, C. (1998). Ethics, genetics and nursing practice: Genetics in clinical practice. New Directions for Nursing and Health Care, 4(1), 221-252.

Lapham, E., & Kozma, (1996). Genetic discrimination: Perspectives of consumers. Science, 274, 621-624.

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