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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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References

Bell, J. & Haldane, J. B. S. (1937) The linkage between the genes for colour-blindness and haemophilia in man. Proceedings of the Royal Society, 123B, 119–150.Google Scholar
Bloch, M., Fahy, M., Fox, S., et al (1989) Predictive testing for Huntington's disease. II. Demographic characteristics, life style patterns, attitudes and psychosocial assessments of the first fifty-one test candidates. American Journal of Medical Genetics, 32, 217–224.Google Scholar
Bloch, M., Adam, S., Wiggins, S., et al (1992) Predictive testing for Huntington disease in Canada: the experience of those receiving an increased risk. American Journal of Medical Genetics, 42, 499–507.CrossRefGoogle ScholarPubMed
Brandt, J., Quaid, K. A., Folstein, S. E., et al (1989) Presymptomatic diagnosis of delayed onset disease with linked DNA markers. The experience in Huntington's disease. Journal of the American Medical Association, 261, 3108–3114.CrossRefGoogle ScholarPubMed
Brock, D. J. H., Mennie, M., Curtis, A., et al (1989) Predictive testing for Huntington's disease with linked DNA markers. Lancet, 2, 463–466.CrossRefGoogle ScholarPubMed
Conneally, P. M., Haines, J. L., Tanzi, R. E., et al (1989) Huntington disease: no evidence for locus heterogeneity. Genomics, 5, 304–308.CrossRefGoogle ScholarPubMed
Craufurd, D., Dodge, A., Kerzin-Storrar, L., et al (1989) Uptake of presymptomatic predictive testing for Huntington's disease. Lancet, 2, 603–605.Google Scholar
Farrer, L. A. (1986) Suicide and attempted suicide in Huntington's disease. Implications for preclinical testing of persons at risk. American Journal of Medical Genetics, 24, 305–311.Google Scholar
Fox, S., Bloch, M., Fahy, M., et al (1989) Predictive testing for Huntington's disease. I. Description of a pilot project in British Colombia. American Journal of Medical Genetics, 32, 211–216.CrossRefGoogle Scholar
Gusella, J. F., Wexler, N. S., Conneally, P. M., et al (1983) A polymorphic DNA marker genetically linked to Huntington's disease. Nature, 306, 234–238.CrossRefGoogle ScholarPubMed
Harper, P. S. (1986) The prevention of Huntington's chorea. (The Milroy Lecture, 1985.) Journal of the Royal College of Physicians, 20, 7–14.Google ScholarPubMed
Harper, P. S., Walker, D. A., Tyler, A., et al (1979) Huntington's chorea. The basis of long-term prevention. Lancet, 2, 346–349.CrossRefGoogle ScholarPubMed
Harper, P. S., Tyler, A., Smith, S., et al (1982) A genetic register for Huntington's chorea in South Wales. Journal of Medical Genetics, 19, 241–245.CrossRefGoogle ScholarPubMed
Hayden, MR., Robbins, C., Allard, D., et al (1988) Improved predictive testing for Huntington disease by using three linked DNA markers. American Journal of Human Genetics, 43, 689–694.Google ScholarPubMed
Huggins, M., Bloch, M., Kanani, S., et al (1990) Ethical and legal dilemmas arising during predictive testing for adult onset disease: the experience of Huntington disease. American Journal of Human Genetics, 47, 4–12.Google ScholarPubMed
Huggins, M., Bloch, M., Wiggins, S., et al (1992) Predictive testing for Huntington disease in Canada: adverse effects and unexpected results in those receiving a decreased risk. American Journal of Medical Genetics, 42, 508–515.Google Scholar
Kessler, S., Field, T., Worth, L., et al (1987) Attitudes of persons at risk for Huntington disease toward predictive testing. American Journal of Medical Genetics, 26, 259–270.Google Scholar
Lam, R. W., Bloch, M., Jones, B. D., et al (1988) Psychiatric morbidity associated with early clinical diagnosis of Huntington disease in a predictive testing program. Journal of Clinical Psychiatry, 49, 444–447.Google Scholar
Mastromauro, C., Myers, R. H. & Berkman, B. (1987) Attitudes towards presymptomatic testing in Huntington disease. American Journal of Human Genetics, 26, 271–282.Google Scholar
Meissen, G. J., Myers, R. H., Mastromauro, C. A., et al (1988) Predictive testing for Huntington's disease with use of a linked DNA marker. New England Journal of Medicine, 318, 535–542.CrossRefGoogle ScholarPubMed
Morris, M. J., Tyler, A., Lazarou, L., et al (1989) Problems in genetic prediction for Huntington's disease. Lancet, 2, 601–603.CrossRefGoogle ScholarPubMed
Office Of Population Censuses And Surveys (1981) National Report, Part II. London: HMSO.Google Scholar
Quaid, K. A., Brandt, J. & Folstein, S. E. (1987) The decision to be tested for Huntington's disease (letter). Journal of the American Medical Association, 257, 3362.CrossRefGoogle Scholar
Quarrell, O. W. J., Meredith, A. L., Tyler, A., et al (1987) Exclusion testing in pregnancy with a closely linked DNA marker. Lancet, i, 1281–1283.CrossRefGoogle Scholar
Quarrell, O. W. J., Tyler, A., Jones, M. P., et al (1988) Population studies of Huntington's disease in Wales. Journal of Clinical Genetics, 33, 189–195.CrossRefGoogle ScholarPubMed
Sandkuyl, L. & Ott, J. (1989) Determining informativity of marker typing for genetic counselling in a pedigree. American Journal of Human Genetics, 82, 159–162.CrossRefGoogle Scholar
Sarfarazi, M., Quarrell, O. W. J., Wolak, G., et al (1987) An integrated microcomputer system to maintain a genetic register for Huntington's disease. American Journal of Medical Genetics, 28, 999–1006.CrossRefGoogle Scholar
Schoenfield, M., Myers, R. H., Berman, B., et al (1984) Potential impact of a predictive test on the gene frequency of Huntington disease. American Journal of Medical Genetics, 18, 423–429.CrossRefGoogle Scholar
Stern, R. & Eldridge, R. (1975) Attitudes of patients and their relatives to Huntington's disease. Journal of Medical Genetics, 12, 221–223.CrossRefGoogle ScholarPubMed
Tyler, A. & Harper, P. S. (1983) Attitudes of subjects at risk and their relatives towards genetic counselling in Huntington's chorea. Journal of Medical Genetics, 20, 179–188.CrossRefGoogle ScholarPubMed
Tyler, A., Quarrell, O. W. J., Lazarou, L., et al (1990) Exclusion testing in pregnancy for Huntington's disease. Journal of Medical Genetics, 27, 488–495.CrossRefGoogle ScholarPubMed
Tyler, A., Ball, D., Craufurd, D., On Behalf Of The United Kingdom Huntington's Disease Prediction Consortium (1992) Presymptomatic testing for Huntington's disease in the United Kingdom. British Medical Journal, 384, 1593–1596.Google Scholar
Walker, D. A., Harper, P. S., Wells, C. E. C., et al (1981) Huntington's chorea in South Wales. A genetic and epidemiological study. Journal of Clinical Genetics, 19, 213–221.CrossRefGoogle Scholar
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