The Ethical Dilemmas of Genetic Testing for Huntington’s DiseaseJoin now to read essay The Ethical Dilemmas of Genetic Testing for Huntington’s DiseaseThe Ethical Dilemmas of Genetic Testing for Huntingtons DiseaseINTRODUCTIONHuntingtons Disease (HD) is an autosomal dominant, progressive, neurodegenerative disorder (Walker, 2007 and Harmon, 2007). The gene that causes the disease is located on the fourth chromosome and causes an abnormal number of repeats in the patients genetic code (Harmon, 2007). Huntingtons Disease can have devastating effects on patients quality of life. The first symptoms of HD generally start between the ages of 30 and 45 and patients are typically asymptomatic prior to this time (Terrenoire, 1992 and Walker, 2007). However, the disease progresses with subtle changes in motor control, personality, and cognition. Patients eventually develop distinct un-coordination, loss of voluntary muscle contraction, and cognitive deficits, leaving them unable to walk, talk, move, or think independently (Walker, 2007 and Harmon, 2007). In general, more abnormal genetic repeats on the patients chromosome correlate to an earlier onset and faster progression of HD symptoms (Harmon, 2007).
There is no cure at this time for HD; rather, care for its symptoms is purely supportive. However, a predictive genetic test is available to determine if patients carry the abnormal genetic repeats (Walker, 2007). To date, only approximately five percent of patients who are potentially at risk for HD choose to pursue this test (Harmon, 2007).
PROBLEM DEFINITIONWith the advent of genetic testing and predictive screening exams, scientific technology has made it possible for patients to peer into their futures. These advances place physicians and researchers in a tough position. Disclosure of this genetic information places patients at risk for discrimination and loss of healthcare benefits. However, this information may also help patients plan future relationships and goals. Each child of a patient with HD has a 50% chance of inheriting the abnormal gene and thus developing HD (Terrenoire, 1992). Patients who do not know the results of their genetic screening exams risk living a life of fear and “what ifs?”, but could take comfort in allowing nature to take its course. Thus, a dilemma arises. Is it ethical to perform predictive genetic testing for HD, an ultimately fatal disease?
LITERATURE REVIEWGenetic testing programs for HD emerged during the 1980s as patients, national organizations, and the medical community debated their benefits (Terrenoire, 1992). Scientific trials and publications in the United States, Canada, and Great Britain at this time touted the usefulness of predictive testing for HD, while also admitting the results could do more harm than good (Terrenoire, 1992). At the same time, health care professionals in France argued that predictive screening of HD should not be performed until a cure or effective preventive therapy were available (Terrenoire, 1992).
A number of ethical dilemmas arose after the predictive genetic test for HD became available in 1986. The issue of who should participate in this testing and the family issues that could ensue were some of the first ethical issues to develop (Terrenoire, 1992 and Ethical issues of genetic diagnosis, 2007). While other predictive genetic tests allow patients to seek life-saving treatment before symptoms develop, no such alternative is available for patients with HD (Ethical issues of genetic diagnosis, 2007). Even with the results of the test in hand, the only recourse patients currently have to wait for the onset of symptoms. Huntingtons Disease testing in one patient may be considered to be testing in all of that patients family members (Ethical issues of genetic diagnosis, 2007). Siblings may vary in their desire to know the results of genetic testing if one parent is diagnosed with HD. Genetic counselors and other clinicians may hesitate to disclose results if not all family members are in agreement (Ethical issues of genetic diagnosis, 2007).
Similarly, genetic testing for HD brings an ethical dilemma regarding confidentiality of the results to light. Clinicians may feel obligated to inform family members of a patient who has recently tested positive for HD (Wusthoff, 2003). However, confidentiality rights also protect the patients health information and right to privacy. Another issue that arises concerns the confidentiality of HD diagnoses with relation to insurance companies. Many patients fear that they will be denied or will no longer be able to afford insurance coverage if the insurance company learns that they will one day have HD (Ethical issues of genetic diagnosis, 2007). Insurance companies may also begin to mandate that genetically-related individuals undergo predictive
of their HD diagnoses, and perhaps other non-disease diagnostic tests. However, as discussed above and described above, the lack of genetic-related patients with HD also means that those with HD may face more of an economic hardship than the general population and may need to be kept informed when their needs change. Unfortunately, the lack of these rights was not lost on patients who may now be affected by genetic testing and may have a future with insurance. It has also been shown that DNA screening, genetic counseling, or other genetic procedures can influence HD in certain populations (Rosen, 1987, 1993). Future research in the area of genetic identification should investigate what can be done to eliminate HD from the population and help provide additional information regarding HD disorders.
Conclusion. Genetic research has found important and useful results in a host of epidemiologic areas, including the link of genetic testing and diagnostic tests to increased susceptibility to HD (Lan, 2008). However, there were limitations. First, genetic testing and genetic counseling may be needed to better identify HD in patients who are at a higher risk for HD. Second, genetic counseling is not required by law. Patients being tested may be not a representative sample, or at the very least not representative at all of the general population. Genetic counseling may not fully reflect the genetic information associated with HD if the screening or clinical setting is not followed in accordance with a specific genetic diagnosis. In some regions, genetic testing may be needed to identify and investigate diseases for which results differ from normal, and to compare patients in the same geographical region in general and of a different ethnic or class from a group or group of patients with or without HD. Also, some diagnostic tests may simply provide information on a person’s normal genetic risk for HD (O’Neill et al., 2007), but not others (Kobes et al., 2007). It should be noted that results from genetic testing in patients with HD are often incomplete or do not take into consideration certain aspects of the patient’s genetics. These complications and possible other factors have been implicated in some cases, including high rates of HD in African-Americans (Izzo et al., 2004), hypertension and diabetes in patients with diabetes or other related conditions (O’Neill et al., 2004). Also, genetic counseling in patients with HD could be highly biased. In an effort to reduce risk, genetic counseling may not be available on prescription in some regions for reasons well known to clinicians and is not available in the United States (Takanaka, 1997). This is particularly true in Africa, where a variety of interventions or services exist to help patients with HD. For instance, in Somalia, genetic testing programs have been successfully used (Takanaka, 1997); as well as in some countries, clinical evidence has demonstrated that such tests significantly reduce the risk for HD (Eriksson et al., 2003; Wusthoff, 2003). However, there is good scientific evidence that genetic tests do not provide adequate information about the presence or status of HD in people with HD. In the United States, genetic counseling services have only limited