The aims of this study were to: 1) quantify the characteristics of those seeking presymptomatic testing for HD, 2) identify their motivations for testing, 3) quantify the waiting times between the various steps within the testing process, and 4) quantify the outcomes of testing at a large state-wide genetic testing center in Australia. A review of medical charts for all referrals for presymptomatic testing of Huntington disease received over a 4 year period (2006-2010) was undertaken. A total of 152 cases met the study inclusion criteria; the mean age was 39 years, 46 % were male and 61 % underwent genetic testing. Of the males who were tested there was a non-significant trend towards having an affected mother vs father (62 %, p = 0.09), whereas females tested were just as likely to have an affected mother or father. The most frequently cited reasons for seeking testing were "family planning", "plan future", and "need to know". Some 11 % deferred testing following the psychological assessment. Of those at 50 % prior risk, 57.5 % tested positive; this was higher than expected and much higher than reported in other studies. The median times from referral to initial appointment, and then to results was 69 days and 144 days respectively. Overall, this review of medical charts shows the depth of information obtainable from routinely collected data and revealed that a high proportion of patients tested positive for HD at this centre.

Advances in genetic tests provide valuable information for clinicians and patients around risks and inheritance of Parkinson's Disease (PD); however, questions arise whether those affected or at risk of PD will want genetic testing, particularly given that there are no preventive or diseasemodifying therapies currently available. This study sought to determine knowledge and attitudes toward genetic testing for those affected with PD. A cross-sectional study was undertaken using a standardized questionnaire with six multi-choice genetic knowledge and 17 multi-choice attitude items. Participants were selected from a registry of people affected with PD living in Queensland, Australia. Half of the selected index cases had a family history of PD. Ordinal regression was used to evaluate the association between support for genetic testing and demographic, knowledge, and other attitudinal factors. The level of genetic knowledge was relatively low (37 % correct responses). The vast majority supported diagnostic testing (97 %) and 90 % would undertake a genetic test themselves. Support for predictive was lower (78 %) and prenatal genetic testing had the least support (58 %). Benefits of testing were identified as the ability to know the child's risk, seek therapies, and helping science with finding a cure. Concerns about genetic testing included potential emotional reactions and test accuracy. Genetic knowledge was not significantly associated with attitudes towards genetic testing. Patients with PD have strong interest in genetic testing for themselves with support for diagnostic testing but less support for predictive and prenatal testing. Genetic knowledge was unrelated to testing attitudes.