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Presymptomatic Testing for Huntington's Disease in Wales 1987–90

Published online by Cambridge University Press:  02 January 2018

Audrey Tyler ,
Michael Morris ,
Lazarus Lazarou ,
Linda Meredith ,
Jennifer Myring  and
Peter Harper
Audrey Tyler*
Affiliation:
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF4 4XW
Michael Morris
Affiliation:
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF4 4XW
Lazarus Lazarou
Affiliation:
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF4 4XW
Linda Meredith
Affiliation:
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF4 4XW
Jennifer Myring
Affiliation:
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF4 4XW
Peter Harper
Affiliation:
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF4 4XW
*
∗Correspondence
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Abstract

Between 1987 and 1990 a large series of at-risk individuals has been referred to our Huntington's disease (HD) presymptomatic testing programme. A detailed protocol for assessment and counselling has been followed. Out of 238 serious inquiries, 36% were potentially suitable for the testing programme, but 19% chose not to continue. Reasons for exclusion included the presence of clinical features of HD and being under the age of 18 years. Out of 40 final results given to 38 individuals, 23 indicated a lowered risk, 11 an increased risk, while five results were uninformative, two of these becoming informative on repeat testing. This series contained more women than men, and was disproportionately from the higher socio-economic groups. Motives for requesting a test principally related to child-bearing, informing existing children, and planning for the future. No significant psychiatric symptoms have been reported in the short term, but difficult counselling problems were presented by the high proportion of applicants who already showed clinical signs of HD. It is concluded that a detailed counselling protocol is essential in testing for HD, as many applicants are ill-prepared; this will assume even greater importance when the HD gene is identified and a test for specific mutations is available. The experience of presymptomatic testing for HD provides important general lessons which are likely to be applicable to other inherited neurological and psychiatric disorders.

Type
Papers
Information
The British Journal of Psychiatry , Volume 161 , Issue 4 , October 1992 , pp. 481 - 488
Copyright
Copyright © 1992 The Royal College of Psychiatrists 

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