Uptake of Huntington disease predictive testing in a complete population - Morrison - 2010 - Clinical Genetics - Wiley Online Library

Clin Genet. 2010 Sep 6. doi: 10.1111/j.1399-0004.2010.01538.x. [Epub ahead of print]
Uptake of Huntington disease predictive testing in a complete population.

Morrison P, Harding-Lester S, Bradley A.

Regional Medical Genetics Centre, Belfast City Hospital, Belfast, UK School of Biomedical Sciences, University of Ulster, Coleraine, UK.

Abstract

Morrison PJ, Harding-Lester S, Bradley A. 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.

PMID: 20880124 [PubMed - as supplied by publisher
Uptake of Huntington disease predictive testing in a complete population - Morrison - 2010 - Clinical Genetics - Wiley Online Library