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Whole-brain Segmentation and Change-point Analysis of Anatomical Brain MRI—Application in Premanifest Huntington's Disease
Published on: June 9, 2018
Perspectives towards predictive testing in Huntington disease.
S M Nagaraja1, Sanjeev Jain, Uday B Muthane
1Department of Neurology, National Institute of Mental Health and Neurosciences, Hosur Road, Bangalore - 560 029, India.
Neurology India
|November 23, 2006
Summary
Genetic counseling for Huntington's disease (HD) presymptomatic testing is scarce in India. While most groups agreed to testing, HD family members showed distinct preferences regarding result disclosure and reproductive decisions.
Area of Science:
- Genetics
- Medical Ethics
- Public Health
Background:
- Huntington's disease (HD) is an autosomal dominant disorder with variable age of symptom onset.
- Presymptomatic genetic testing for HD is available in India, but genetic counseling services are limited.
- This gap impacts families affected by HD.
Purpose of the Study:
- To assess attitudes towards presymptomatic testing for Huntington's disease (HD).
- To compare opinions among HD family members, physicians, and the general public (laypersons).
Main Methods:
- A modified questionnaire was used to gather opinions on personal, familial, social, and healthcare aspects of HD presymptomatic testing.
- Responses were collected from unaffected HD family members (n=25), laypersons (n=50), and medical doctors (n=50).
- Physicians provided brief explanations of HD and testing to participants.
Main Results:
- All groups (HD family members, physicians, laypersons) showed similar willingness to undergo presymptomatic testing.
- HD family members were less inclined to share test results with friends (60%) and employers (80%).
- Physicians and HD family members expressed greater concern about the certainty of disease development post-positive test results, influencing reproductive decisions.
Conclusions:
- Knowledgeable individuals, including those with HD family history and medical professionals, exhibit differing views on sharing test results and making reproductive choices.
- The study highlights the need for tailored genetic counseling in India for HD presymptomatic testing.
