Editor who approved publication:
The reality is that it has no benefit in terms of treatment. We take a look at what the process of predictive genetic testing entails. In the western world, the prevalence of HD is estimated to be in the range of 4 — 10 perpeople.
In Australia, about 1, people have HD, while approximately 6, are at risk. This means that the condition is the result of a single mutated gene — an expanded CAG repeat in the HTT gene, which is located in the short arm of chromosome 4. What is predictive genetic testing?
Predictive genetic testing is done to predict future risk of developing a genetic condition in a person who does not display any disease symptoms. In the case of HD, it gives the person a chance to find out whether he or she has the specific gene mutation linked to the condition.
Predictive genetic testing cannot determine exactly when someone will become symptomatic.
However, if a high level of CAG repeats of the HD gene is detected during testing, it might mean that a person will get the disease earlier, but this is not an exact science — the environment and other modifying genes could play a role.
Some people will develop HD in the prime of life; others may only become symptomatic in their senior years. However, the mean age of onset is 40, with death occurring 15 — 20 years from onset.
A difficult decision Getting tested for HD is a major life decision that should be made with the assistance of a skilled genetic counselling team.
What complicates the decision is the fact that there is no known treatment or cure for HD. A positive test result will mean that the person will get this progressive, fatal disorder at some point in their life. A negative test result gives a person the all-clear, but often goes hand in hand with significant psychosocial distress and feelings of regret and guilt as other family members may be affected.
Predictive genetic testing is not recommended for people under the age of The protocol differs from country to country, and clinic to clinic, but sessions will usually involve: This helps the person to make an informed decision about getting tested or not. These sessions should be spaced out to give the person enough time to process the information.
A month between sessions is advisable, and the person should be encouraged to bring a trusted friend or family member along to each session for support.
Involving a family physician is also advised. This is important, even if the genetic test indicates that the person is not at risk for HD. The at-risk person should realise that they can halt this process at any point. After the blood sample was sent to the testing lab, it might take a couple of weeks before the results are available.
During this time, it may be necessary to continue counselling. A positive result means the person will get HD, with all its associated neurologic and psychiatric symptoms, at some point in their life; a negative result means he or she will not be affected.
Testing is, however, becoming more and more accurate and newer tests exclude large gene expansions, providing better results.
If the test result is positive, several important life decisions will have to be made. Should the person tell his or her employer and risk discrimination? Should they tell family members, some of whom may not want to know their HD risk? Which financial, life and health insurance measures should be taken?
How does the test result affect family planning? Note that test results are treated as strictly confidential. Division of Neuropathology, http: Annals of Indian Academy of Neurology, 14 Suppl1:Start studying Biological Psych.
|Welcome to Reddit,||Symptoms include mood and behavior disturbancesincluding depression, apathy, irritability, anxiety, and obsessions; cognitive declinesuch as loss of memory and inability to focus, plan, recall or make decisions; and physical deterioration due to large involuntary movements, which cause loss of coordination and difficulty walking, talking, and swallowing.|
|NSGC > Genetic Conditions > Huntington's Disease and Predictive Genetic Testing||Self-awareness Initiating and ending activities While the caudate nucleus connects with many parts of the brain, it has the most connections with the frontal lobes. The caudate nucleuslocated within the basal gangliaincurs the greatest number of destroyed neurons as a result of HD.|
|Huntingtons Disease Essay : Huntingtons||This article provides an overview of the literature and draws implications for clinical practice.|
|Predictive Testing Since the marker gene for HD was discovered in it has been possible for an "at risk" person 18 years or over to have a predictive test.|
|The Behavioral Symptoms of Huntington's Disease - HOPES Huntington's Disease Information||The prompt for this essay was: Predictive Testing for Huntington's in Teenagers Imagine being unable to control your body, swallow your food, or speak to your loved ones.|
Learn vocabulary, terms, and more with flashcards, games, and other study tools. The mirror test is used to see if an individual human or animal is: The _____ of amyloid plaques and neurofibrillary tangles determines the kind of deficit seen in Alzheimer's disease.
Huntington's disease (HD) is an Autosomal Dominant Disease having a varying age at onset. There is no epidemiologic data on the prevalence of HD in India. Perspectives towards predictive testing in Huntington disease. Neurol India. ; – Articles from Annals of Indian Academy of Neurology are provided here courtesy of .
From papers initially identified, eight articles were eligible for inclusion. Psychological impact of predictive genetic testing was not found to be associated with test result. No detrimental effect of predictive genetic testing on non-carriers was found, although the process was not found to be psychologically neutral.
Huntington's disease was the first disease for which predictive testing was offered. People over 18 years old who have a family member affected with Huntington's disease but do not yet have symptoms of the disease are eligible for testing. Predictive testing for Huntington's disease has potential benefits for the psychological health of persons who receive results that indicate either an increase or a decrease in the risk of.
Studies, in addition to Richards and Williams , that found few negative effects of predictive testing on couple relationships: Codori AM, et al. Psychological costs and benefits of predictive testing for Huntington’s disease.
Am J Med Genet