G01 Huntington disease predictive testing protocol: a 5 year review of practice

Abstract

Background The protocol for HD predictive testing at our Centre includes a psychosocial assessment as step 2 of a 3-step process. In future, this resource may not be available. Aims To review our experience with our HD predictive testing protocol. Methods We performed a 5-year review of patients referred for pre-symptomatic testing for HD and solicited feedback from 10 recent patients. Results/outcome A total of 104 individuals at 50% risk requested predictive testing for HD. The majority (87; 84%) completed the protocol and received results. Almost all agreed to meet a neuropsychiatrist and none were flagged as poor candidates for predictive testing. Of the 17 that did not complete the protocol, 13 (76.5%) discontinued after the first session with the genetic counsellor, 2 never returned for results, 1 stopped after blood test, and 1 saw neuropsychiatrist but never had blood drawn. Conversations with the 10 most recent patients revealed that most felt the process worked well. Wait-time for results was the only complaint. Opinions differed regarding the helpfulness of neuropsychiatric consultation and few patients opted to access neuropsychiatry after the protocol was complete. Conclusions Assessing readiness is essential to HD predictive testing, as is psychological support after testing. Feedback from our patients was mixed with regard to usefulness of meeting with neuropsychiatrist. The significant number of patients (12.5%) who did not continue with the protocol after first session with the genetic counsellor vs the small number (3%) who did so after the neuropsychiatric evaluation, suggests the majority of patients are making decisions very early on in the protocol.