articles have very strong points on the ethical debate or genetic testing Alicia Semaka, PhD, CGC, CCGC, is a Huntington’s disease researcher and postdoctoral fellow at the University of British Columbia. Identifying the illness through genetic testing can help families prepare for impending difficulties, and can help in making decisions about family planning. The discovery of the HD gene led to a genetic test to make or confirm the diagnosis of Huntington's disease. Another pro is that genetic testing can help unwise to provide parents and children with such powerful information... Research is proceeding in many directions: Basic neurobiology: Scientists are continuing to study the HD gene to better understand how it causes disease. The pros and cons of genetic testing warrant a closer look. Since the gene that causes HD is dominant, each child of an HD parent has a 50-50 chance of inheriting the HD gene. These studies may shed additional light on how HD is passed from generation to generation. In Huntington's Disease (HD) is an autosomal dominant, progressive, neurodegenerative disorder (Walker, 2007 and Harmon, 2007).
Individuals with HD usually have 40 or more repeats. There is no cure for this fatal disease. There are different types of Huntington’s disease (HD) symptoms and many ways to manage them. Interestingly, both carriers and non-carriers reported reduced levels of anxiety and a sense of being able to ‘move forward’ and get on with their lives following testing, although two of the non-carriers reported difficulties in adjusting to the realization that, contrary to their expectations, they would not go on to develop HD. However, the work adds an interesting perspective to the debate about appropriate ages for genetic testing for serious disease; perhaps most notably, “Not one of the young people interviewed regretted undergoing predictive testing”. Andrew File System, which hosts this address, will be ending service by January 1, 2021. every individual who carries a copy of the mutant gene, will go on to develop the disease. if one has the disease is a widely debated topic, but not for this age 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). The child needs only one copy of the gene from either parent to develop the disease. Eur J Hum Genet. Another pro is that … Everyone has the Huntington’s disease gene but only those who have a genetic mutation in the gene may develop the disease.
Individuals consider genetic testing to confirm a diagnosis when clear symptoms are present and there is a documented family history of HD. As a genetic counselor specializing in research on Huntington’s disease, I have met numerous patients with the disease and families who are impacted by it.
For example, a test to identify if you may develop cancer. To understand genetic testing better and know whether you should go for it, look at the following pros and cons. The outcome of the disease and the lack of treatment are among the reasons why people who have known Huntington’s disease in the family seek out genetic testing. knows he or she has the disease, it still is impossible to know when the Children whose parents are mutation-positive have a 50 percent chance of developing the disease when they are adults. However, a predictive genetic test is available to determine if patients carry the abnormal genetic repeats (Walker, 2007). A number of ethical dilemmas arose after the predictive genetic test for HD became available in 1986. Enter your email address to receive updates about the latest advances in genomics research. However, the work adds an interesting perspective to the debate about appropriate ages for genetic testing for serious disease; perhaps most notably. Some who are at risk choose not to take the test. Clinical trials of drugs: Drug testing includes classes of drugs that control symptoms, slow the rate of progression of HD or correct or replace other metabolic defects contributing to the development and progression of HD. We report 2 young children who are examples of the consequences of premature testing for Huntington disease. We suggest that a child at risk for juvenile Huntington disease not be tested until symptoms are progressive and consistent with the disease and all other mimickers are excluded. This means that if a person inherits only one defective gene for Huntingtons disease, then that person is very likely to develop the disease. Clinicians may feel obligated to inform family members of a patient who has recently tested positive for HD (Wusthoff, 2003). 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). Some individuals fall in the middle and have what is called an intermediate allele (27 to 35 CAG repeats), meaning they will usually not develop the disease but there may be a chance their children will. 5823194, © 2020 PHG Foundation The authors note the similarity of their results and those of earlier researchers, who had not restricted their analysis to younger individuals; they also acknowledge the significant limitations of their very small study. Please enable it to take advantage of the complete set of features! Patient Educ Couns. Cohen states, "...consider it disease is a horrible genetic disease that typically afflicts people between
Huntington’s disease is an inherited brain disorder that is caused when specific cells in the brain die. 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).
able to save extra money. The most significant Children of parents who are mutation-negative are not at risk. I recommend that anyone considering predictive testing meet with a genetic counselor. If the child does not inherit the defective gene, the child will not get the disease nor pass the gene on to subsequent generations. What Is Genetic Testing?
The genetic testing involved in determining In 1993, scientists finally isolated the HD gene on chromosome 4. Individuals who do not have HD usually have 28 or fewer repeats. “You need to know what to go after,” Aatre says. Get the latest public health information from CDC: https://www.coronavirus.gov. It’s estimated that for every person who has Huntington’s disease, the disorder impacts another 20 individuals including friends, caregivers and family members, many of whom are at-risk for developing it themselves. Epub 2007 Jan 24. The complexity of reproductive decision-making in asymptomatic carriers of the Huntington mutation. During the genetic counseling sessions you’ll discuss many issues, including the potential benefits and harms of testing, your motivations for testing, your expectations about the test result, the impact either a mutation-positive or negative result might have on your life, and strategies for dealing with the test result. With time and support, most people come to accept their result. ", but could take comfort in allowing nature to take its course. disease, that child could suffer from extreme loss of self-worth and self-esteem. All people inherit two … | Prenatal testing can show whether the child will inherit the defective gene. could help out financially in the long run. and better control of it now. Another issue that arises concerns the confidentiality of HD diagnoses with relation to insurance companies. 1994 Apr 15;50(3):239-46. doi: 10.1002/ajmg.1320500306.
Thus, a dilemma arises. person is tested for a genetic disorder at a young age, and is found positive,
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