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Huntington's disease (HD) is a genetically transmitted neurodegenerative disorder characterised by symptoms like involuntary choreiform movements, cognitive impairment, mood disorders, and behavioral changes which are chronic and progressive over the course of the illness.
HD is a trinucleotide repeat disorder. The CAG repeats in the HD gene increases to more than 40 repeats in case of disease expression. Genetic testing identifies these gene alterations.
There are 3 types of genetic testing for HD.
- Diagnostic testing - to confirm disease
- Presymptomatic testing - to determine carrier status of an individual at genetic risk for inheriting the disease
- Prenatal testing - to determine carrier status of a fetus
The advantage of screening for the genetic disease is that it reduces the stress induced on family, health systems and resources when a child is born with Huntington's disease. When carrier status of a parent or fetus is identified, the birth of a diseased child could be prevented. In case of disease being diagnosed in an individual, the several treatment options that are available could be utilized.
There are several disadvantages too to the genetic testing for HD like anxienty, depression, stress, false security and concerns about discrimination. There are negative stigmas in the society associated to genetic disorders like Huntington's disease. People seem to isolate such patients which adds to the concerns.
The transition from a supposed normal healthy state to an abnormal diseased state that exhibits symptoms that could island them from the society, is the biggest stress that a person would undergo. The partners of identified carriers were also found to be undergoing deep psychological stress.
Since there is a wide array of psychological concerns to genetic testing of diseases like Huntington's disease, conselling sessions are always arranged before them, especially the presymptomatic screening test. Counseling should be provided to the patient as well as their partners.
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