Advanced Pathophysiology: Genetic Technology Essay

Advancement in genetic technology is almost becoming inevitable while at the same time it is re-defining the traditional roles of nurses. Major development are being realized in nursing practice specifically in clinical genetics where nurses are required to have adequate information about genetic disorders so as to appropriately participate in assisting individuals and families in decision making and adjustment to the new genetic information. Therefore, this essay will discuss each of the sub-topics related to Pathophysiology.

An appropriate interdisciplinary team in addressing Trosacks issue

In order to gain insightful information prior to Trosacks initial visit, there is a need to have an appropriate interdisciplinary team from which relevant information can be obtained. Members of the team should be experts and specialists from different fields but whose knowledge of genetic disorders can be reliable. Hence, the following types of members will be appropriate in providing the necessary information: pediatric neurologists, biochemists, genetic counselor or the medical geneticist, epidemiologist and a lawyer.

Genetic knowledge and technology especially when condensed in the perspectives of nursing practice constitute an area that cannot have a single approach and subsequent understanding. In order to internalize the issue for effective informed decision-making appropriately, nurses need the help of pediatric neurologists who have to detect the presence of the disorder in the individual. Others include biochemists who have to identify the mutation and prognosis of the disorder in the population, and genetic counselor who has to carry out risk assessment of the disorder to the family and provide the necessary supportive information and advice.

In addition, epidemiologist will be needed in conducting and investigating the history of the genetic disorder in the family or the particular population, while a lawyer who will be essential in giving the legal and ethical implications of any particular decision a victim may decide to adopt.

Information expected from the specialists in relation to the identified disorder

Pediatric neurologists mostly work with children specifically in identifying and proposing the appropriate treatment for various disorders discovered. In accordance to Tay-Sachs disorder, the specialist is likely to provide the following information: the origin of the disorder, what factors contribute to the occurrence of the disorder, characteristics of the disorder, treatment if available for the disorder and the overall nature of the disorder. On his part, biochemist specialist will be an asset in providing information related to DNA mutations that are likely to result in a disorder, the receptor regulation and how they facilitate a disorder occurrence.

This is in addition to information of molecular “aspects of genetic variation and evolution, mutation, gene action and regulation, immunogenetics, somatic cell genetics and the nuclei acid function in hereditary and development of genetic disorders and lastly biochemical aspects of genetic defects” (Forrest, 2009). Genetic counselor will provide information such as: how the victim can cope with the disorder; what are the implications of the disorder to the lives of the victims and their family members; how the victims should approach the testing and treatment options; how families at risk due to a particular disorder can be helped and counseling information on inheritance and the risk of recurrence of the disorder to a family.

For an epidemiologist, his or her information to the board will largely involve: patterns of health, in this case disorders and their associative factors in a specific population, prevalence of gene variants and gene-disease associations, historical analysis of the possibility of a genetic disorder occurring and estimation of the heritability of a disorder. Lastly, a lawyer will be useful in providing guidance as to the manner in which information related to genetic disorder can be utilized, as well as the legal limitation of issues to do with information disclosure to the victim. This is in addition to legal measure appropriate to the family in relation to the unborn baby and the overall legal ethical consequences of any action likely to be embraced by the family or medical specialist.

A Teaching Plan for the Trosacks’ initial visit

Genetic diagnosis

Diagnosis starts as the first step towards identifying the presence of a genetic disorder in an individual. It also constitutes the first process upon which services to support the family affected emanate. Diagnosis start with a complete physical examination that involves identifying and analyzing symptoms related to a family hereditary disorder. In diagnosing Tay-Sachs disease (TSD), prenatal testing is done where chorionic villus sampling (CVS) or amniocentesis is employed to screen for the presence of a genetic disorder. In some cases, a blood test may be undertaken where the couples’ blood is tested to find out if they are genetic carriers of Tay-Sachs.

When diagnosed, the disorder is found to be characterized by a deficiency of the enzyme hexosaminidase A, that later causes developmental retardation, paralysis, dementia, and blindness among infants up to the age of 5 years.

Treatment

First TSD is an inherited condition and the early symptoms of the disease among infants appear at the age of six months when a healthy child abruptly stops “smiling, crawling or turning over, loses the ability to grasp or reach out, and in a gradual way becomes blind and paralyzed” (USA TODAY, N.d). The disease cannot be transmitted since it is only acquired through hereditary means, and there is no possibility of it occurring in the future unless one is born with it.

Currently, there exists no treatment for TSD, which can be used to prevent the disease, and most programs in place largely address the ways of making infected children more comfortable (USA TODAY, N.d). Some of the treatment options with regard to this include “respiratory care, assistive devices, medication, physical therapy, support for the family, coordination with primary care physician” (MAYO CLINIC, N.d).

Prognosis as it applies to Tay-Sachs

In general prognosis of Tay-Sachs refers to the existing potential outcomes of the disorder and the prognosis for the disorder include: “duration of Tay Sachs, chances of complications of Tay Sachs, probable outcomes, prospects for recovery, recovery period for TSD, survival rates, deaths rates and other possibilities in the overall prognosis” (Anon, 2010). TSD resulting from mutation occurs in three types: infantile TSD, Juvenile TSD and Adult or Late Onset TSD. The disease classified as an autosomal recessive genetic disorder has 25 per cent chance of occurring when both parents are carriers.

The disease results from mutations that take place on chromosome 15, and when these mutations occur, they change the protein product thereby interfering with the normal functionality of the enzyme. In many epidemiologic studies and research, it has been found out that specific communities have prevalence cases of TSD; they include Ashkenazi Jews, Cajun, and French Canadians. Diagnosis of the disease has been done with the aim of formulating strategies to prevent it. Strategies may involve: prenatal diagnosis with the possibility of terminating the pregnancy; mate selection with the aim of discouraging carrier of the disease partners from marrying each other; and preimplantation genetic diagnosis where the mother’s egg can undergo vitro fertilization to prevent the child from inheriting the disease.

Support groups and appropriate referrals

Various groups and referrals provide help to TSD families. For instance, there is the National Tay-Sachs and Allied Disease Association that provide support to the affected families and individuals in order for them to lead a stress-free life. In addition, there is the National Foundation for Jewish Genetic Diseases, Tay-Sachs Prevention Program, and Late-Onset Tay-Sachs Foundations, Center for the Study and Treatment of Jewish Genetic Diseases and Genetic Alliance Inc. Further services of Genetic counselors have been common and which many families continue to use.

Pregnancy information

Pregnancy Information with regard to TSD is important for appropriate actions to be instituted. Generally, many will avoid the screening procedure only to come and find later about TSD in their children. Once screened, the couples are presented with an opportunity to make an informed decision usually with the help of genetic counselors.

Ethical implications with regard to personal genetic information

The first ethical implication has to do with who owns and controls the genetic information. In most cases, the relevant specialists are the custodians of the information but the issue here is when the genetic information becomes part of the individual’s medical record he or she is likely to be denied insurance coverage, employment and any other beneficial opportunity available. Second issue is the way disclosure of the genetic information affects the family.

The issue here is on the likely effect the information will have on the victim and how the larger society will perceive the individual, hence are mechanisms in place to ensure the individual or the family is not stigmatized? Thirdly, are the patients undergoing the genetic testing properly provided with information on the risks and shortcomings of the genetic technology? In most cases, this has not been adhered to.

Trosacks Choice

Providing guidance to the possible and appropriate actions for Trosacks family presents a case in dilemma to any specialist, considering the fact that the family has refused to consider the possibility of abortion due to their religious and personal belief. First, the truth needs to be told to the couples that TSD is a hereditary disorder that happens when the two parents are both carriers. Its manifestation in children starts at the age of six months and due to lack of treatment the child dies latest at the age of five. Therefore, the disorder totally denies the child a chance to live. The agony of having to bore a child with full knowledge that this child’s survival chance is almost zero is painful and scathing. The guilty becomes heavy when the child finally dies and as the parents realizes that this could have been avoided.

Therefore, as much as abortion may appear unethical and contrary to the beliefs of the couples, in this situation it may appear to be the most ‘appropriate’ to the couples since the agony, pain, guilty and scars associated to it will be less detrimental to the psychological and emotional stability of the couples. In advocating for the couples decision, it will be necessary to summarize the conclusions of the board to them about the disorder, take them through the legal and moral aspects concerning the genetic disorder, the different decision proposals available about the disorder, and the best way they can reach a compromised decision.

How ethical and legal considerations affect the couple’s decision

The couples are confronted with a dilemma; first, their religious background makes it ‘unethical’ for them to abort the child but on the other hand law provides a window for the termination of a pregnancy especially the one with a case such of TSD. The ethical dilemma is further severe given the fact that knowing their status, can they forego their relationship, can they have a childless marriage, and how comfortable will they be? What if they opt to separate, will the law accept their situation as a genuine reason to warrant separation without any further legal implications? What if they opt for viro fertilization in future, will the law adequately identify their situation and guarantee them full protection concerning ownership of the child? In addition, how will this be ethical in accordance to their religion and their beliefs?

Conclusion

TSD has assumed a contradictory position in legal and ethical spheres. The disorder has no treatment and its chances of occurrence are estimated at 25 per cent. When couples discover that they are carriers of the disease, they are confronted with dilemma specifically in making decision, as they agonize about the various legal and ethical implications. What is important in all the situations is for effective genetic counseling to be promoted since this will enable the couples to arrive at the best option to pursue.

References

Anon. (2010). Prognosis of Tay Sachs. Web.

Forrest, H. (2009). Biochemical Genetics. Journal of Human Genetics. Web.

MAYO CLINIC. (N.d). Tay-Sachs Disease: Treatment. Web.

USA TODAY. (N.d). Health Encyclopedia-Diseases and Conditions: Tay-Sachs Disease. Web.