Presymptomatic testing for Huntington's disease in the United Kingdom. The United Kingdom Huntington's Disease Prediction Consortium.
OBJECTIVE
To evaluate the United Kingdom Huntington's disease presymptomatic testing programme.


METHODS
Postal questionnaire survey to collect data on all tests performed by clinical genetics centres between 1987 and 1990.


METHODS
Genetic centres providing presymptomatic testing in the United Kingdom.


METHODS
248 subjects at risk of Huntington's disease who had presymptomatic testing at their request.


METHODS
Sex, age, prior risk, and risk after testing.


RESULTS
The risk of carrying the Huntington disease gene was reduced for 151 (61%) of the applicants and raised for 97 (39%). 158 (64%) of the subjects were female and 90 (36%) male. The median age at which the results were given was 32.5 years.


CONCLUSIONS
The demand for testing was lower than expected and may have reached its peak in 1990. The excess of low risk results was not fully explained by the age effect. All the genetics centres concerned have agreed a common service protocol which requires extensive pre-test counselling and post-test follow up. The worth of the procedure remains to be decided. The availability of a large body of pooled data from all the United Kingdom testing centres, which individually are likely to have only a few results, will form a valuable resource for monitoring the long term psychosocial impact of testing.
Tyler
A
A
Institute of Medical Genetics, University of Wales College of Medicine, Cardiff.
Ball
D
D
Craufurd
D
D
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D005260:Female; D005820:Genetic Testing / Q000523:psychology; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis*; D008297:Male; D008875:Middle Aged; D010342:Patient Acceptance of Health Care; D012307:Risk Factors; D012737:Sex Factors; D006113:United Kingdom