Uptake of Huntington disease predictive testing in a complete population.
Using the Northern Ireland Huntington disease (HD) register, the number of prospectively recorded predictive tests was analysed over a 20-year period. Two hundred and twelve patients completed predictive testing. Ninety-two (43%) received mutation-positive results and 119 (56%) mutation negative. There was one intermediate allele result. There was no significant gender difference. One hundred and eighty affected cases confirmed by molecular genetic testing were alive on 1 January 2001. The uptake of predictive testing in the entire HD 50% at-risk population in 2001 was calculated by three methods giving a range of 12.3-14.6%. Uptake after 20 years was estimated to be 14.7%. The minimum prevalence of affected HD cases was calculated as 10.6/100,000 in 2001. The total uptake of predictive testing was calculated and it suggests that a substantial number of at-risk patients do not come forward for testing until symptomatic. Pre-symptomatic testing for this late-onset condition with no present treatment, and limited management options, still presents challenges for families.
Morrison
P J
PJ
Regional Medical Genetics Centre, Belfast City Hospital, Belfast, UK. patrick.morrison@belfasttrust.hscni.net
Harding-Lester
S
S
Bradley
A
A
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D058070:Asymptomatic Diseases; D005260:Female; D005820:Genetic Testing / Q000706:statistics & numerical data*; D005828:Genetics, Population; D006801:Humans; D000071058:Huntingtin Protein; D006816:Huntington Disease / Q000453:epidemiology / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009660:Northern Ireland / Q000453:epidemiology; D009687:Nuclear Proteins / Q000235:genetics*; D011159:Population Surveillance / Q000379:methods*; D011237:Predictive Value of Tests; D015995:Prevalence
C086055:HTT protein, human; D000071058:Huntingtin Protein; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins