PREDICTIVE TESTING FOR HUNTINGTONS-DISEASE - 10 YEARS EXPERIENCE IN 2ITALIAN CENTERS

Pre-symptomatic testing for Huntington's disease (HD) has been availab le as a clinical service in the medical centres of Rome and Genoa sinc e December 1987, initially by DNA-linkage and since mid-1993 by direct mutation analysis. A multidisciplinary approach and a protocol which follows the Ethical Issue Policy Statement on Huntington's Disease Mol ecular Genetics Predictive Test has been used. In the period under stu dy, 332 subjects requested the test, 288 were enrolled in the protocol and nearly half of these completed it. One hundred and forty-eight pe ople withdrew from the testing procedure for various reasons but most frequently due to a more realistic evaluation of all possible conseque nces of rest results, induced by psychological counselling. Therefore, 140 people completed the test. The overall gene-carrier/non-carrier r atio was 0.46:1. None of the identified gene carriers had catastrophic reactions such as suicide, suicide attempts or major psychiatric diso rders. All appear to have had a similar pattern of reactions to an adv erse result and none el;pressed regret for undergoing the test. lu con clusion, presymptomatic testing for HD can be considered a safe proced ure without adverse consequences when framed in an integrated protocol at qualified genetic centres.