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a Institute
of Medical Genetics, University of Wales College of Medicine, Heath
Park, Cardiff CF4 4XN, UK, b Department of Medical Genetics, St Mary's
Hospital, Manchester, UK
Correspondence to: Professor Harper, HarperPS{at}Cardiff.ac.uk
Revised version received 20 February 2000;
Accepted for publication 7 April
2000
Data on all presymptomatic genetic tests for Huntington's
disease (HD) in the UK have been collected over the 10 year period since testing became available as a service. A total of 2937 completed tests have been performed up to the end of 1997, 2502 based on specific
mutation testing, feasible since late 1993.
A total of 93.1% of these were at 50% prior risk, with a significant
excess of females (58.3%); 41.4% of results were abnormal or high
risk, including 29.4% in subjects aged 60 or over. The trend in test
numbers has currently levelled out at around 500 per year.
Almost all presymptomatic tests are carried out in National Health
Service genetics centres, with a defined genetic counselling protocol
and with availability now in all regions of the UK. The introduction
and establishment of HD presymptomatic testing shows that this form of
predictive medicine for Mendelian disorders can be successfully
incorporated into National Health Service structures. The comprehensive
collection of simple data allows trends in demand and outcomes to be
monitored and has also been the foundation for more detailed specific
studies. A comparable approach to data collection in other genetic
disorders will be important as presymptomatic testing becomes more
generally feasible.
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