Huntingdons Disease and Ethical Issues Associated with It - Essay Example

?Huntingdon’s Disease and Ethical Issues Associated with It Introduction George Huntington described Huntington’s disease (HD) as an inherited neurological disorder which appears in midlife (40s and 50s). Quarrell (2008, p.2-4) notes that when one has HD, the nerve cells of the brain usually called basal ganglia die over time. The dead cells are usually involved in the coordination, cognitive and thought abilities. As a result, individuals with this disease develop complications associated with poor coordination, thought and cognitive abilities. Wright (2004) notes that individuals suffering from the disease usually have chorea (involuntary movements; usually called Huntington’s chorea), involuntary grimacing or twitching as well as involuntary jerking of legs and or arms. Write reveals that these movements start as minor and people may tend to ignore but progressively worsen to an incapacitating condition. In addition, individual’s suffering from HD also experience cognitive loss, problems with speech, judgment difficulties, and at times unusual mood or behavior disturbances such as emotional outbursts, changes in work performance and frequent depression according to Mitra and University of California (2007). Hansen and Durfy (2000) note that, for a majority suffering from the disease, the symptoms usually begins to appear in their 30s and 40s though this varies considerably from 2 to 75 years. Wright (2004) also found out that for most people, death usually occurs 20 to 20 years after the symptoms are noticed. What is worrying of the disease according to Hansen and Durfy (2000) is that the HD has no treatment that can be used to prevent the onset of the symptoms or to even change the course of the disease. Nevertheless, doctors have established that medications may help symptoms though not able to abate the progression of the disease. Genetic Hansen and Durfy (2000) note that Huntington’s Disease (HD) is a genetic disorder that affects close to one in every 10,000-20,000 individuals. The disease is not in any way linked to sex chromosome (autosomal condition) implying that the disease affects both male and female in equal numbers. The disease is also dominant implying that just a single gene alteration or mutation from one parent is enough for the disease to show its symptoms. Scientists have found out that an individual whose parents have HD has 50% probability of developing the condition themselves (Klitzman et al. 2009, p.661-671). Consequently, these people also have a 50-50 chance of passing on the condition to their children in case they have the disease mutation. What need to be understood here is that the 50-50 chance of developing the disease does not mean that all the children of a parent with the HD will also have HD; instead, the probability of each child inheriting the HD gene mutation is 50% with every child conceived (Folstein 1989, p.46-54). Based on the probability it is very possible that some families may have all the children inheriting the HD gene mutation, while in others, all the children may end up not inheriting the HD gene mutation. Lawrence (2009, p.16-149) points out that an HD gene was mapped in 1983 to the tip of the short arm of chromosome 4 and isolated in 1993. The gene transcript is 10,366 nucleotide bases long encoded with proteins, known as Huntington, which is 3,144 amino acids in length according to Folstein (1989, p.46-54). It reveals that the genes found in people with HD has a totally different structure than those carried by persons without HD. Close to the HD gene, Hanser and Durfy (2000) notes that there exist a DNA sequence containing several trinucleotide repeats (three nucleotide which are repeated several times). These bases are cytosine (C), adenine (A) and guanine (G) in the HD, normally repeated in the pattern CAGCAGCAGCAG and so on according to Aronin et al. (1995, p.12-16). Understanding the HD gene structure has been found to be useful as it allows a test to be developed to distinguish between genes that might cause symptoms of HD and those that may not. Hansen and Durfy (2000) notes that persons who have or may ultimately develop the HD in most cases have more than 39 copies of the trinucleotide repeat. On the other hand, individuals who dot have and have no chance of developing the HD have only 34 or less copies of the triplet sequence according to Aronin et al. (1995, p.14-22). Since it discovery and understanding of the trinucleotide repeat, it has become technically possible to determine if anyone have the HD mutation though testing. These is done using HD DNA test to test persons showing signs or those not showing symptoms but are highly at risk for inheriting the HD gene from their parents who already have the HD gene mutation. This test is usually termed presymptomatic or predictive since those who are not showing the symptoms are subjected to testing so as to be able to provide them with enough information about whether they may end up developing HD at some point in their life. Hansen and Durfy (2000) reveal that prenatal diagnosis can sometimes also be performed. HD gene test is usually performed to determine the number of copies of the trinucleotide repeat on both chromosomes of persons who request for testing. Once consent has been received from a patient, a blood sample is taken, and DNA isolated from the white blood cells. The physicians then use polymerase chain reaction (PCR) technique to synthesize numerous copies of the HD gene that may or may not have extra copies of the trinucleodide repeat. The PCR products are separated by gel electrophoresis and sizes of the fragments of DNA having been synthesized compared to a set of standards. It is here that physicians will know whether the individual tests positive to the HD mutation or negative and provide advice (Terrenoire 1992, p79-85). Clinical genetics Hansen and Durfy (2000) argue that the test for HD has both risks and benefits, just like other medical tests. Firstly, they note that the presymtomatic testing has no benefit at all to individuals being tested since the disease is neither curable nor has treatment to slow the cause of symptoms. They also observe that there are benefits and risks linked with the test for HD that are personal, social and psychological in nature. In this regard, Hansen and Durf argue that predictive testing for HD has the potential of impacting dramatically on the life of the individual being tested as well as their family members. Opponents of this kind of testing cite several risks associated with the testing such as depression, suicide, anxiety, hopelessness and feelings of despair according to Boot and Chaudhuri (1998). Other risks cited include the fact that it creates changes in self perception as well as altered family dynamics and relationships which is not good to the person and his family members. Despite these risks, proponents also see some benefits with the predicting testing. Nyrhinen and Leino-Kilpi (2000, p.54-60), for instance, cite relief of anxiety, improved psychological well being and decreased depression as some of the benefits associated with predictive testing. Other proponents of the predictive testing argue that it gives people the opportunity to reexamine themselves and/or alter some aspects of their lives. Wong and Lieh-Mak (2001, 393-397) argue that at societal level, persons at risk of HD normally experience stigmatization and discrimination. He noticed that at some point, this people were being subjected to employment and insurance discrimination as well as difficulties in adoption process. Moreover, HD gene detection in a person at risk may make it hard for the individual to acquire health care benefits, life and disability insurance coverage for themselves and their families. Due to these ethical issues associated with the risks and the impacts of predictive testing for HD, may psychologists and doctors place a great value on the individual’s right to decide for him/herself to be tested or not. Kennedy and Shelbourne (2000, p.2539-2544) note that HD testing is usually done to people above 18 years of age as a way of preserving an individual’s right to make independent decision due the impacts of testing on children and their family members. He also observed that prenatal testing is sometimes offered under exceptional circumstances. Hansen and Durf (2000) cite that due to the complex nature of risks and issues surrounding testing for HD, many tests are done within the context of a larger counseling and information exchange process. Hey note that counseling and information pertaining to predictive testing for HD is done by specially trained medical geneticists and or genetic counselors. This is to ensure that the patients who want to be tested are provided with perquisite information and advice to help them make the right decision on how to continue with their lives in case the results happen to be positive confirming they have the HD gene or may develop the symptoms mid way through their lives. Hansen and Durf (2000) define genetic counseling as a communication process dealing with problems facing human beings that are associated with risk of occurrence or occurrence of a genetic disorder within a family. They note that this counseling process help the person or members of his family to: appreciate the way hereditary factors contribute to the problem and risk of occurrence in specified relatives; understand the medical facts, such as diagnosis, available management and cause of the disorder; have a knowhow on alternatives for handling the risk of occurrence. Counseling also helps the person and his family members to be able to choose the right course of action appropriate with regard to the risks, their ethical, family mission and religious standards and be able to act in accordance with the decision. Lemier (2004, p.81-86) also argue that counseling help the person and the family make the best possible judgments with regard to the disorder and the affected family member as well as the risk of occurrence of that disorder. Lawrence (2009, p.16-23) notes that, individuals wishing to undergo predictive testing for HD undergo several counseling sessions at a genetic clinic before finding out their status regarding HD. Under normal circumstances, it is always advisable to people considering testing to have a support person during counseling sessions. In these counseling sessions, a medical geneticist and or genetic counselor provide information concerning the tests and its implications discussed. The blood sample of the individual is them taken which is transferred to the lab for testing. Under normal circumstances, those who consent to be tested are given are asked to append their signatures on an informed consent document, which reiterates all the risks associated with testing. The document also describes the testing process. After isolating the DNA from the patients blood and tested, the results are then provided during the subsequent counseling session. Lemiere (2004, p.89-91) points out that a follow up contact between the person tested and the genetics clinic occurs, which includes activities such as phone calls and additional appointments or other options depending on the need of each person. In most cases, the decision to be tested is highly viewed as personal matter, thus geneticists are not required to advice an individual as to whether or not they should be tested. This is termed as nondirective counseling approach, used mostly for counseling during genetic tests. Hansen and Durf (2000) note that individuals choosing to be tested are not compelled to do so and are at full liberty to change their mind at any stage during the counseling process. Report reveals that since the discovery of the HD gene, very few people have opted to be tested to determine their HD status (Knowles 2006, p.113-119). Nevertheless, the reasons why many people choose not to be tested still remain under examined. Some studies, however, show that many people avoid testing due to worries about risks to their children in case they discover that they have the HD gene; financial constraints to do the test; concerns about losing health insurance in case one discovers that he or she has HD gene and the fact that HD has no cure, so why test? Ethical Issues According to Harper (1996, p 205), there are several ethical issues that have arisen due to the availability of neurogenetic presymptomatic (predictive) tests to diagnose a disease prior to the onset of symptoms or signs. Presymptomatic genetic testing of Huntington’s disease (HD) is an example of an area where there have been serious ethical issues. In other Neurogenetic disorders, ethical dilemmas arise in the use of presymptomatic testing in disorders such as hereditary ataxia and neuromuscular disorders as well as hereditary epilepsies. It is recommended that presymptomatic testing in HD be done to serve as a model of early diagnostic testing protocols for other late-onset neurodegenerative diseases (Bernat, 2008 p 412). Human beings at risk for developing HD fear its clinical features, after previously witnessing affected family members who underwent progressive dementia, chorea and inanition, with eventual death. Individuals at risk have demanded for testing services to determine whether they are at risk or whether they are destined to develop the disease later in life. Information obtained from testing results are useful for young people at risk so that they are able to make important decisions concerning their marriage, childbearing, education, and employment before the signs of HD start to appear. The decisions are often made differently depending on whether patients will or will not develop HD. The urge to answer these essential questions led to the development of presymptomatic tests for HD and the ethical contentions (Borbas and Hegyesi , 2002 p 134). There are some neurologists who have held the idea that it is ethically wrong to develop and apply predictive tests for HD. Their arguments are based on the severe psychological torture and burden a patient must endure after being diagnosed with HD as well as having the fear that he or she will develop an untreatable, fatal disease later in life. Consequently, there are some neurologists who have held the opinion that just knowing for certain (even if the testing result is positive) relieves much anxiety in patients than those who have not gone for diagnosis tests. Thus, individuals at risk of HD require presymptomatic testing primarily to relieve the anxiety of not knowing the future (Hayden, 2000 p 194). Ethical issues have also arisen in prenatal screening of fetuses for the HD gene. In particular, there are parents who have requested for selective abortion if the fetus is found to be affected by the HD gene. Prenatal screening is carried out with the genetic linkage tests as well. However, exclusion testing permits a fetus to be tested without necessarily disclosing the genetic status of the parents. Screening for selective abortion has presented ethical issues that are different from infant screening for other diseases such as Tay-sachs. In HD, patients can live for several decades before symptoms begin to appear. Physicians have refused to perform requested prenatal HD testing because they argue that it raises the same consent objections in the process of testing a minor (Hayden, 2000 p 194). Ethical decisions must be made by prospective parents having a fetus with HD gene. The parents must make the difficult decision whether such lives should be lived or aborted. There are some HD centers who believe that the only way to stop HD gene transmission is to prenatally discover the gene. For instance, Marjorie Guthrie, the widow of famous American folksong writer Woody Guthrie, objected to prenatal abortion. Informed consent is another area that has presented ethical arguments to physicians. Informed consent refers to the appropriate provision and comprehension of opinion, followed by willingness to participate. The issue of how much information should be provided to patients has affected treatments in medicine. In addition, consent issues have become difficult to resolve and has become the subject of litigation by aggrieved patients. Physicians must know that consent is based upon knowledge of alternatives associated with the proposed procedure. The first issue that physicians must address involves the content of information to be provided to the HD patients. Patients should never be exposed to risks of harm unless they have agreed to the consequences of that risk (Quarrell and Harper, 1996 p 45). In conclusion, presymptomatic testing for HD is ethically acceptable if the following conditions are met. First, physicians must ensure that the test is safe and have positive and negative predictive values approaching 1. Secondly, the test should be carried out on adults with their full voluntary consent; performing HD test on infants and children is considered to be unethical. In addition, HD tests should not be performed at the request or as the result of coercion by third parties. Further, measures should be instituted to assure patients of confidentiality and privacy while conducting HD tests. It would be unethical for HD teats to be carried out without a comprehensive program of pre-test and post-test counseling for patients and their families (Chapman, 2002 p 356). Social Effects Huntington’s disease has major social implications to patients, their family members and friends. In particular, families that are affected tend to form the lower socio-economic groups in the society. Men suffering from HD attain lower socio-economic status in the society that men who do not have the disease, consequently, women with the disease tend to marry men from lower social classes due to neglect from men in the higher social class (Clarke, 1994, p 78). Social effects such as high infant and childhood mortality rates also arise due to the prevalence of HD. Alcoholism, suicide, and criminal behavior have also been reported on individuals diagnosed with Huntington’s disease; these social effects have markedly increased in frequency (Harperand, 1996 p 248). While some of these social problems may arise due to early or preclinical effects of the HD disease, psychological effects resulting from abnormal parenting or sibling behavior and disrupted family life also play a part, affecting both healthy individuals and those who have inherited the abnormal gene. Huntington’s disease also has profound social effects on the normal spouse. The positive results of HD lead to real or imagined threats of the disease to marriage. Further, there are also considerable financial implications for affected families and the community because of the loss of productivity and consumption of medical services. To some extent, the immediate social needs of patients are directly related to their stage of the HD disease and financial limitations (Baum et al, 1997 p 467). The diagnosis of HD, however, has implications which go far beyond the affected individual alone. Living with an individual affected with HD has serious effects to family members, for their roles and for the family as a system. In particular, the caregiver may bear the burden of caring for the affected person while at the same time maintaining previous roles at the same time providing care for the affected person. In the case of HD, the care giver must live with the fact that another family member may have inherited the gene and go on to develop the disease (Donaldson, Marsden, Schneider and Bhatia, 2012 p 764). Being diagnosed with HD is a source of shame for several patients and their families as well as friends. Clinicians have reported several instances where individuals with overt signs and positive family histories of HD denied their clinical condition claiming that they have Parkinson’s disease or some other disease. This shame leads to different opinions about being tested. Family members should never be allowed to coerce each other into having tests performed. In addition, family members have no right to know the test results of other members (Morris, 1995 p 188). Test results of HD may have a serious effect on self image and lifestyle. In addition, test results can also place a great burden on partner and children. Symptoms of depression and anxiety can be developed and some patients may experience a prolonged period of significant distress. However, there are cases whereby patients at high risk results have adjusted to their new status within few months. These patients live in high awareness of the present but often experience difficulty in planning for the future. Further, a high risk status may lead to the use of denial as a defense mechanism when the first symptoms of Huntington’s disease develop, which may lead to increased distress and the risk of suicide (Burgess, Adam and Bloch, 1997 p 199). Other social effects of HD include stigmatization in the areas of employment, insurance and social relationships. Possible benefits of a high risk result may involve the ability of patients to make informed decisions concerning their marriage and child bearing plans, not only for the person tested but for their partner and children. Consequently, the time prior to the onset of HD symptoms can be used for preparation, both practical and emotional, for the coming infirmity and hardship (Chapman, 2002 p 351). Insurance companies and employers have had particular interests in the results of HD testing and other genetic tests. In particular, direct questions seeking to determine the results of genetic testing could feature on insurance application forms in the near future, as has occurred in the case of HIV status. Presently, problems have been encountered in cases whereby insurance companies seek a medical report and are informed of a previously undisclosed family history of Huntington’s disease. Following predictive testing, patients should not be obliged to indicate that HD testing has taken place and go ahead in disclosing that information in medical report. Due to the extensive and expensive training done in some occupations, it is likely that employers may ask much medical information as is available, including information of genetic profiles (Chapman, 2002 p 355). Prenatal diagnosis of Huntingdon’s disease Physicians continue to receive requests from women who need prenatal diagnosis of the HD. This is due to the denial of their male counterparts despite being at risk as well as their refusal to know their gene tic status concerning HD. Legal and ethical concerns have been noted in such cases because women who go for such tests have been able to determine their husband’s genetic mutation for the HD. Legal challenges can arise when the male counterpart does not want any information concerning their genetic mutation or they may be unprepared for such information (Quarrell and Harper, 1996 p 45). According to MacMillan and Quarrell (1996 p 36), prenatal diagnosis of HD is also done by women to determine whether the fetus will be able to survive. Women have requested for abortion services from physicians after learning the genetic information of the fetus. Abortion is often sought after because the parents do not want any other social implication associated with the HD. Prenatal testing always occur after a woman has discovered that her partner has a 50 % chance of developing the Huntington’s disease. In addition, the partner may also not be interested in predictive testing that is offered in the hospital (Nance et al, 1999 p 393). Due to such situations, women become adamant that they cannot afford to give birth to children who will develop the HD late in life. If prenatal tests are positive, there is a chance that the husband will also be having the HD gene. Ethical considerations on who has the right to know have been contested in the society. There are legal experts who have argued that the woman has the right to seek prenatal diagnosis while others have argued that the husband has the right not to know such information. Prenatal test that involve third parties must seek for informed consent from them because they can be affected y the outcome of the test. In the united kingdom, the woman’s request to have prenatal testing can be granted without involving the husband at risk, as long as consent has been granted by the woman (Hersch, Jones & Koroshetz, 1994 p.1369). Conclusion Presymptomatic testing in Huntington’s disease provides a model for genetic testing in other disorders, particularly those of late onset. Ethical issues that have been encountered and examined during the testing procedure provide a general framework by which other testing programs can be examined and established. Important lessons can be learnt from the Huntington’s disease experience in areas which include informed consent, prenatal testing, testing of children, confidentiality and obligations. There is need to guarantee expert counseling, this need is expected to increase as more patients continue to seek for HD testing. References Baum, A., Newman,S., Weinman, J., West, R. & Macmanus, C. 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