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Brisbane, Australia

Scuffham T.M.,Genetic Health Queensland | McInerny-Leo A.,University of Queensland | Ng S.-K.,Griffith University | Mellick G.,Princess Alexandra Hospital | Mellick G.,Griffith University
Journal of Community Genetics | Year: 2014

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 disease-modifying 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. © 2013 Springer-Verlag. Source


Mallett A.,Royal Brisbane and Womens Hospital | Mallett A.,University of Queensland | Patel C.,Genetic Health Queensland | Salisbury A.,University of Queensland | And 4 more authors.
Orphanet Journal of Rare Diseases | Year: 2014

Background: There are an established and growing number of Mendelian genetic causes for chronic kidney disease (CKD) in adults, though estimates of prevalence have been speculative. The CKD Queensland (CKD.QLD) registry enables partial clarification of this through the study of adults with CKD receiving nephrology care throughout Queensland, Australia. Methods. Data from the first 2,935 patients consented to the CKD.QLD registry across five sites was analysed, with a comparison between those with and without Genetic Renal Disease (GRD). Prevalence of GRD amongst those with diagnosed CKD, the general population, and commencing renal replacement therapy (RRT) was calculated using the CKD.QLD registry, national census data and extracted Australian and New Zealand Dialysis and Transplantation (ANZDATA) registry report data respectively. Results: Patients with GRD constituted 9.8% of this Australian adult CKD cohort (287/2935). This was lower than in local incident RRT cohorts (2006-2011: 9.8% vs 11.3%, x2 = 0.014). Cases of adult CKD GRD were more likely to be female (54.0% vs 45.6%; x2 = 0.007), younger (mean 52.6 yrs vs 69.3 yrs, p < 0.001), have a higher eGFR (mean 49.7 ml/min/1.73 m2 vs 40.4 ml/min/1.73 m2, p < 0.001), and have earlier stage renal disease (CKD Stage 1: 15.7% vs 5.1%, x2 < 0.0005) than those without GRD. Conclusions: The proportion of GRD amongst an Australian adult CKD population in specialty renal practice is similar to past estimations. GRD is a significant cause for CKD and for RRT commencement, presenting opportunities for ongoing longitudinal study, directed therapeutics and clinical service redesign. © 2014 Mallett et al.; licensee BioMed Central Ltd. Source


Ingles J.,Centenary Institute | Ingles J.,University of Sydney | McGaughran J.,Genetic Health Queensland | McGaughran J.,University of Queensland | And 4 more authors.
Heart | Year: 2012

Background: Traditional management of families with hypertrophic cardiomyopathy (HCM) involves periodic lifetime clinical screening of family members, an approach that does not identify all gene carriers owing to incomplete penetrance and significant clinical heterogeneity. Limitations in availability and cost have meant genetic testing is not part of routine clinical management for many HCM families. Objective: To determine the cost-effectiveness of the addition of genetic testing to HCM family management, compared with clinical screening alone. Methods: A probabilistic Markov decision model was used to determine cost per quality-adjusted life-year and cost for each life-year gained when genetic testing is included in the management of Australian families with HCM, compared with the conventional approach of periodic clinical screening alone. Results: The incremental cost-effectiveness ratio (ICER) was $A785 (£510 or €587) per quality-adjusted life-year gained, and $A12 720 (£8261 or €9509) per additional life-year gained making genetic testing a very costeffective strategy. Sensitivity analyses showed that the cost of proband genetic testing was an important variable. As the cost of proband genetic testing decreased, the ICER decreased and was cost saving when the cost fell below $A248 (£161 or €185). In addition, the mutation identification rate was also important in reducing the overall ICER, although even at the upper limits, the ICER still fell well within accepted willingness to pay bounds. Conclusions: The addition of genetic testing to the management of HCM families is cost-effective in comparison with the conventional approach of regular clinical screening. This has important implications for the evaluation of families with HCM, and suggests that all should have access to specialised cardiac genetic clinics that can offer genetic testing. Source


Poke G.,Genetic Health Queensland | Doody M.,Materials Pathology | Prado J.,Materials Mothers and Materials Childrens Hospital | Gattas M.,Genetic Health Queensland
Molecular Syndromology | Year: 2012

We report a child with segmental maternal uniparental isodisomy of chromosome 6, involving most of the long arm distal to 6q16, detected by SNP microarray. Clinical features include prenatal growth restriction, global developmental delay, and severe gastro-esophageal reflux disease. Maternal uniparental disomy (UPD) of chromosome 6 has previously been reported to cause intrauterine growth restriction. Paternal UPD of this chromosome is well known to cause transient neonatal diabetes mellitus. We discuss reported cases of maternal UPD of chromosome 6 and consider whether our patient's features may be due to disordered imprinting or unmasking of an autosomal recessive condition. Copyright © 2012 S. Karger AG, Basel. Source


Scuffham T.M.,Genetic Health Queensland | Macmillan J.C.,Genetic Health Queensland | Macmillan J.C.,University of Queensland
Journal of Genetic Counseling | Year: 2014

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 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 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. © National Society of Genetic Counselors, Inc. 2014. Source

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