Uptake of Huntington disease predictive testing in a complete population
Article first published online: 29 SEP 2010
© 2010 John Wiley & Sons A/S
Volume 80, Issue 3, pages 281–286, September 2011
How to Cite
Morrison, P., Harding-Lester, S. and Bradley, A. (2011), Uptake of Huntington disease predictive testing in a complete population. Clinical Genetics, 80: 281–286. doi: 10.1111/j.1399-0004.2010.01538.x
- Issue published online: 5 AUG 2011
- Article first published online: 29 SEP 2010
- Accepted manuscript online: 6 SEP 2010 12:09AM EST
- Received 1 June 2010, revised and accepted for publication 31 August 2010
- Huntington disease;
- predictive testing;
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.