The Ethical Dilemmas Of Genetic Testing For Huntington's Disease

The Ethical Dilemmas of Genetic Testing for Huntington's Disease

INTRODUCTION

Huntington's 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 patient's genetic code (Harmon, 2007). Huntington's 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 patient's 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 DEFINITION

With 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 REVIEW

Genetic 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. Huntington's Disease testing in one patient may be considered to be testing in all of that patient's 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 patient's 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 genetic testing for HD if one family member develops the disease (Ethical issues of genetic diagnosis, 2007).

Another ethical debate reigns in the choice for HD patients to have children and in prenatal screening for HD. Since HD is generally not diagnosed until later in life, many patients have children before their HD diagnosis (Ethical issues of genetic diagnosis, 2007). The children of one parent with HD have a 50% chance of developing the disease themselves. However, if a patient tests positive for the gene that causes Huntington's disease before having children, conflicts could arise between partners about whether or not to even have children (Ethical issues of genetic diagnosis, 2007 and Tassicker, Savulescu, Skene, Marshall, Fitzgerald & Delatycki, 2003). The predictive genetic test for HD can also be performed before a baby is born. If parents differ in their opinions regarding the results, clinicians must choose how to act in everyone's best interest (Tassicker, et al, 2003). Some clinicians have argued that identifying prenatal genetic defects could prejudice the child's upbringing and will not provide any medical benefit (Ball and Harper, 1992).

PROBLEM ANALYSIS

Autonomy

Autonomy includes an individual's right to self rule and individual decision making without undue influence from others (Gillon, 1995 and Levine, 2008, p. 14-15). To respect patients' autonomy, clinicians and health care workers must communicate well with their patients. This includes both active listening and providing adequate information to facilitate patients' decision-making (Gillon, 1995). Clinicians must understand what information a patient wants and, perhaps more importantly, what information a patient does not want to know. The clinician must respect the patient's decision and not deviate from that decision based on personal reasons,