ORCID Profile
0000-0001-7282-9596
Current Organisations
University of Sydney
,
University of New South Wales
,
Invitae Corporation
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Publisher: Informa UK Limited
Date: 26-12-2016
DOI: 10.1080/10408363.2016.1250247
Abstract: Hemolysis is a leading cause of pre-analytical laboratory errors. The identification of contributing factors is an important step towards the development of effective practices to reduce and prevent hemolysis. We performed a review of PUBMED, Embase, Medline and CINAHL to identify articles published between January 2000 and August 2016 that identified factors influencing in vitro hemolysis rates. The 40 studies included in this review provide excellent evidence that hemolysis rates are higher in Emergency Departments (EDs), for non-antecubital draws, for specimens drawn using an intravenous catheter compared to venipuncture and for s les transported by pneumatic tube compared to by hand. There is also good evidence that hemolysis rates are higher when specimens are not collected by professional phlebotomists, larger volume specimen tubes are used, specimen tubes are filled less than halfway and tourniquet time is greater than one minute. The results of this review suggest that hospitals and clinical laboratories should consider deploying phlebotomists in EDs, drawing all blood through a venipuncture, using the antecubital region as the optimum blood collection site and transporting specimens by laboratory assistant/other personnel, or if this in not practical, ensuring that pneumatic transport systems are validated, maintained and monitored. Studies also recommend making hemolysis a hospital-wide issue and ensuring high-quality staff training and adherence to standard operating procedures to reduce hemolysis rates. Awareness of the factors that influence hemolysis rates, and adoption of strategies to mitigate these risk factors, is an important step towards creating quality practices to reduce hemolysis rates and improve the quality of patient care.
Publisher: Elsevier BV
Date: 2013
Publisher: Oxford University Press (OUP)
Date: 1985
DOI: 10.1093/BIOINFORMATICS/1.3.153
Abstract: A new computer search strategy has been devised for high-resolution nucleotide sequence analysis. The strategy differs from those used by earlier sequence analysing programs in that it is exhaustive and capable of detecting all possible homologies and other types of relationships between or within sequences irrespective of the pattern of matches and mismatches encountered. The implementation of this strategy into a working algorithm is described.
Publisher: Oxford University Press (OUP)
Date: 1986
DOI: 10.1093/NAR/14.1.425
Abstract: Most computer algorithms used for comparing or aligning nucleotide sequences rely on the premise that the best way to extend a homology between the two sequences is to select a match rather than a mismatch. We have tested this assumption and found that it is not always valid.
Publisher: Springer Science and Business Media LLC
Date: 30-11-2022
DOI: 10.1007/S12687-021-00567-8
Abstract: Programs offering reproductive genetic carrier screening (RGCS) to high school students within the Ashkenazi Jewish community in several countries including Canada and Australia have demonstrated high uptake and retention of educational messages over time. This study was undertaken to evaluate whether testing for an expanded number of conditions in a high school setting would impact the effectiveness of education. In this questionnaire-based study, genetic carrier testing for nine conditions was offered to 322 year 11 students from five high schools, with students attending a compulsory 1-h education session prior to voluntary testing. Comparison of pre- and post-education measures demonstrated a significant increase in knowledge, positive attitudes, and reduced concern immediately after the education session. Retention of knowledge, measures of positive attitude, and low concern over a 12-month period were significantly higher than baseline, although there was some reduction over time. In total, 77% of students exhibited informed choice regarding their intention to test. A significant increase in baseline knowledge scores and positive attitude was also demonstrated between our original 1995 evaluation (with testing for only one condition) and 2014 (testing for nine conditions) suggesting community awareness and attitudes to RGCS have increased. These findings validate the implementation of effective education programs as a key component of RGCS and are relevant as gene panels expand with the introduction of genomic technologies.
Publisher: Elsevier BV
Date: 06-2014
Publisher: Wiley
Date: 13-06-2015
DOI: 10.1111/JPC.12632
Abstract: Internationally, Tay-Sachs disease (TSD) preconception screening of Ashkenazi Jewish (AJ) in iduals and couples has led to effective primary prevention of TSD. In Australia, adolescent preconception genetic screening programs operate mainly in Jewish community high schools. These existing programs offer an effective means of primary prevention of TSD, are cost effective and safe. However, in the broader Australian community TSD screening is not systematically performed and cases still occur in unscreened AJ in iduals. In order to improve the effectiveness of Australian screening, there is a need for definitive guidelines for healthcare professionals to facilitate extension of the proven benefits of preconception TSD screening to all AJ in iduals at risk. We performed a systematic review of the relevant literature relating to AJ pre-conception and antenatal screening for TSD. The evidence was assessed using an established National Health and Medical Research Council evidence grading system. Evaluations of efficacy of TSD screening programs design and execution, cost-benefit and cost-utility health economic evaluation, and population outcomes were undertaken. The results have been used to propose a model for universal AJ TSD preconception and antenatal screening for the primary care setting.
Publisher: Elsevier BV
Date: 03-2019
Publisher: MDPI AG
Date: 28-10-2022
DOI: 10.3390/JPM12111781
Abstract: Reproductive genetic carrier screening (RGCS) provides people with information about their chance of having children with autosomal recessive or X-linked genetic conditions, enabling informed reproductive decision-making. RGCS is recommended to be offered to all couples during preconception or in early pregnancy. However, cost and a lack of awareness may prevent access. To address this, the Australian Government funded Mackenzie’s Mission—the Australian Reproductive Genetic Carrier Screening Project. Mackenzie’s Mission aims to assess the acceptability and feasibility of an easily accessible RGCS program, provided free of charge to the participant. In study Phase 1, implementation needs were mapped, and key study elements were developed. In Phase 2, RGCS is being offered by healthcare providers educated by the study team. Reproductive couples who provide consent are screened for over 1200 genes associated with serious, childhood-onset genetic conditions. Those with an increased chance result are provided comprehensive genetic counseling support. Reproductive couples, recruiting healthcare providers, and study team members are also invited to complete surveys and/or interviews. In Phase 3, a mixed-methods analysis will be undertaken to assess the program outcomes, psychosocial implications and implementation considerations alongside an ongoing bioethical analysis and a health economic evaluation. Findings will inform the implementation of an ethically robust RGCS program.
Publisher: Walter de Gruyter GmbH
Date: 15-09-2018
Abstract: The key incident monitoring and management systems (KIMMS) quality assurance program monitors incidents in the pre- and postanalytical phases of testing in medical laboratories. Haemolysed specimens have been found to be the most frequent preanalytical error and have major implications for patient care. The aims of this study were to assess the suitability of KIMMS for quality reporting of haemolysis and to devise a meaningful method for reporting and monitoring haemolysis. A structured survey of 68 Australian KIMMS laboratory participant organisations was undertaken. Quarterly haemolysis reports (2011–2014) were analysed. Among 110 million accessions reported, haemolysis rates varied according to the reporting methods that participants used for assigning accessions (16% of participants reported haemolysis by specimen and 83% reported by episode) and counting haemolysis rejections (61% by specimen, 35% by episode and 3% by test). More than half of the participants (56%) assigned accessions by episode and counted rejections by specimen. For this group, the average haemolysis rate per 100,000 episodes was 177 rejected specimens with the average rate varying from 100 to 233 over time. The majority of participants (91%) determined rejections using the haemolysis index. Two thirds of participants (66%) recorded the haemolysis manually in laboratory information systems. KIMMS maintains the largest longitudinal haemolysis database in the world. However, as a means of advancing improvements in the quality of the preanalytical laboratory process, there is a need to standardise reporting methods to enable robust comparison of haemolysis rejection rates across participant laboratories.
Publisher: Elsevier BV
Date: 10-1984
DOI: 10.1016/S0022-5193(84)80143-5
Abstract: Given that addiction has been characterized as a disorder of maladaptive learning and memory, one critical question is whether there are unique physical adaptations within neuronal ensembles that support addiction-related learned behavior. The search for the physical mechanisms of encoding these and other memories in the brain, often called the engram as a whole, continues despite decades of research. As we develop new technologies and tools that allow us to study cue- and behavior-activated Fos-expressing neuronal ensembles, the possibility of identifying the engrams of learning and memory is moving into the realm of reality rather than speculation. It has become clear from recent studies that there are specific functional, electrophysiological alterations unique to Fos-expressing ensemble neurons that may participate in encoding memories. The ultimate goal is to identify the addicted engram and reverse the physical changes that support this maladaptive form of learning.
Publisher: Elsevier BV
Date: 11-2003
Publisher: Springer Science and Business Media LLC
Date: 06-2002
Publisher: Ovid Technologies (Wolters Kluwer Health)
Date: 1985
Abstract: The correlation between serum and hepatic markers of hepatitis B virus (HBV) has been studied in 70 subjects with chronic active hepatitis of whom 18 were HBsAg+ and 52 were HBsAg-. In HBsAg+ subjects, sera were tested for HBeAg/anti-HBe status and for HBV DNA sequences using a DNA dot hybridization technique. Anti-HBs and anti-HBc were measured in serum in the HBsAg- group. Immunoperoxidase staining was used to detect HBsAg, HBcAg and delta antigen in liver tissue. Of the 18 HBsAg+ patients, 13 were HBeAg+ and 5 were anti-HBe+. A good correlation was shown between HBeAg and HBV DNA in serum and HBcAg expression in liver tissue. Neither HBV DNA in serum nor HBcAg in liver tissue was detected in any of the anti-HBe+ patients. HBsAg and/or HBcAg were detected in liver tissue in 17 of 18 HBsAg+ subjects (95%). However, neither HBsAg nor HBcAg were detected in liver tissue in 52 HBsAg- patients. This group included 11 patients with antibody markers in serum of past HBV infection. Thus, in contrast to previous studies, a good correlation was demonstrated between the serum and hepatic markers of viral replication, and no evidence was obtained to implicate the HBV as an etiological agent in HBsAg- chronic active hepatitis.
Publisher: Elsevier BV
Date: 08-1982
Publisher: Walter de Gruyter GmbH
Date: 2007
Publisher: Elsevier BV
Date: 03-1996
Publisher: Elsevier BV
Date: 09-2005
DOI: 10.1097/01.GIM.0000178496.91670.3B
Abstract: To explore the cost-effectiveness of school-based multi-disease genetic carrier screening. Decision analysis of the cost-effectiveness of a school-based Tay-Sachs disease and cystic fibrosis genetic carrier screening program, relative to no screening. Data relating to ethnicity profile, test-accepting behavior, and screening program cost were sourced from an existing program in Sydney, Australia. Compared to no screening, the incremental cost-effectiveness of the screening program is A dollar 5,834 per additional carrier detected. This cost-effectiveness ratio is most sensitive to changes in genetic test accuracy, and the cost of laboratory assays. The results imply a cost per affected birth avoided of approximately A dollar 530,000 (approximately US dollar 371,000). This preconceptional genetic carrier screening program offers comparable cost-effectiveness to prenatal screening programs for cystic fibrosis.
Publisher: Elsevier BV
Date: 09-1998
DOI: 10.1016/S0168-8227(98)00079-5
Abstract: To describe the prevalence of self-reported diabetes and undiagnosed diabetes using new fasting plasma glucose (FPG) criteria, and vascular associations with diabetes history in a representative s le of older Australians attending the population-based Blue Mountains Eye Study. 3654 people aged 49 years or older, representing 88% of permanent residents in two postcode areas west of Sydney, underwent a detailed medical and eye examination. This included history of diabetes, vascular events and vascular risk factors. Fasting pathology tests, including glucose, were obtained for 88% of these subjects. A diabetes history was given by 217 people (5.9%), including 7.0% of men and 5.2% of women. Elevated FPG (> or = 7.0 mmol/l) was found in a further 66 people (2.2% of persons who had FPG performed) and Impaired Fasting Glucose (FPG > or = 6.1 mmol/l and < 7.0 mmol/l) was found in a further 127 people (4.2%). History of diabetes was associated with an increased prevalence of obesity, elevated mean blood pressure and serum triglycerides, and lower mean serum cholesterol and HDL-cholesterol. Statistically significant associations were found between diabetes history and history of angina, acute myocardial infarction, stroke, gout and thyroid disease, after adjusting for age and sex using logistic regression. The vascular relationships with diabetes were stronger among people who currently smoked. This study has found similar diabetes prevalence to recently published Australian National Health Survey findings. Strong cross-sectional associations between diabetes history and vascular events and increased prevalence of vascular risk factors among older subjects with diabetes emphasise the need to address vascular risk factors in this group.
Publisher: Wiley
Date: 02-1990
DOI: 10.1111/J.1445-5994.1990.TB00362.X
Abstract: The efficacy of interferon treatment for Australian patients with chronic active hepatitis B (CAH-B) was assessed by a three-centre randomised controlled trial in Sydney and Brisbane. Thirty patients (29 with histologically-proven CAH-B with and without cirrhosis and one with chronic persistent hepatitis) were allocated to receive either thrice weekly intramuscular injections of recombinant human leucocyte interferon -alpha A (either 2.5, 5.0 or 10.0 million units/m2) for six months followed by 12 months of observation, or to be observed for 18 months without active treatment. Three of 23 treated patients but none of seven controls underwent clinical, biochemical and histological resolution of their disease with loss of HBsAg, HBeAg and HBV-DNA from serum. An additional six treated and two control patients underwent a sustained partial remission of their disease. This was characterised by resolution of symptoms and serum aminotransferase abnormalities in association with seroconversion from HBeAg positive to negative, loss of HBV-DNA from serum but persistent hepatitis B surface antigenaemia. In such patients, there was significant improvement in histological appearances but some necroinflammatory activity remained and fibrosis was unchanged. Although total response rates were similar in treated and control subjects, they appeared to occur earlier after interferon treatment. Treatment with interferon was associated with predictable but minor side effects that usually did not necessitate dose reduction and rarely compromised the patient's life style. Interferon is thus a feasible treatment for CAH-B. Complete responses occurred only in treated patients and partial responses appeared to occur earlier in treated than in untreated patients. However, differences in the partial response rate at 18 months were not significant and seroconversion from HBeAg positive to negative was not associated with complete histological resolution of disease activity. Hence, while interferon is a promising agent for treatment of CAH-B, efforts must continue to define more optimal treatment regimes and to identify those patients most likely to respond to this agent.
Publisher: Wiley
Date: 03-2004
DOI: 10.1023/B:BOLI.0000028837.63607.F0
Abstract: This study reports, for the first time, the carrier frequency of Canavan disease in the Ashkenazi Jewish population in Australia, and the identification of a novel mutation in the ASPA gene.
Publisher: Wiley
Date: 04-2026
DOI: 10.2981/WLB.00027
Abstract: Urban environments support high concentrations of humans, domestic pets and introduced animals, creating conditions conducive to the transmission of parasites. This study compared patterns of ectoparasite infestation of the common brushtail possum Trichosurus vulpecula in urbanised Sydney (n = 161) to those from a remote woodland site (n = 18) from February 2005 – November 2006. We found diff erences in ectoparasite species prevalence between the two groups: the flea Echidnophaga myrmecobii was only found on urban possums and the tick Ixodes trichosuri was much more prevalent in the urban habitat, while the mite Atellana papilio was more prevalent on woodland possums. E. myrmecobii and I. trichosuri diff ered from other ectoparasites by showing an association with host sex and host age. Potential physiological costs of ectoparasitism to urban‐dwelling possums were determined using multivariate analysis of haematology, serum biochemistry and body condition. Changes in serum iron levels were seen in the presence of both the tick Ixodes trichosuri and the flea E. myrmecobii , and E. myrmecobii was associated with elevated serum levels of the liver enzyme ALT. However, ectoparasite‐related changes in haematology and serum biochemistry were not indicative of long‐term pathology. In this urban possum population, the costs of ectoparasitism appear to be limited and unlikely to pose a major threat to the health of the population.
Publisher: Springer Science and Business Media LLC
Date: 12-01-2021
Publisher: SAGE Publications
Date: 2004
DOI: 10.1258/000456304322664708
Abstract: Background: We have investigated the causes of incomplete pathology request forms received at our clinical chemistry laboratory. Based on a request form audit we found that the data most frequently missing from a pathology request form was the doctor's name, unique identification provider number, or signature. Methods: We examined the effect of issuing the requesting doctors with self-inking st s personalized with their name and a unique provider number. Results: The intervention led to an immediate and sustained improvement in compliance, with the proportion of incomplete forms falling from 43% to 2%. In contrast, distribution of a memorandum alone made no significant change to the number of pathology request forms with incomplete data arriving at the laboratory. Conclusion: This study describes a simple and low-cost solution to one of the causes of incomplete pathology request forms. It also demonstrates the effectiveness of systems improvement in health care.
Publisher: Springer Science and Business Media LLC
Date: 15-07-2011
Publisher: Cambridge University Press (CUP)
Date: 09-1995
DOI: 10.1086/647168
Abstract: To reduce the risk of needlestick injuries to laboratory workers. Continuous Quality Improvement (CQI) tools were applied to data collected on the number of blood gas syringes that arrived in the laboratory with needles still attached and to the reasons for these occurrences. A clinical chemistry department within a 900-bed tertiary referral university teaching hospital. Clinical chemistry laboratory staff and medical staff responsible for sending syringes with needles still attached. Changing to a preheparinized blood gas syringe that included a syringe cap within the packaging. Fivefold reduction in the number of syringes arriving in the laboratory with needles still attached. The risk of needlestick injury to laboratory workers can be reduced by provision to clinical staff of preheparinized blood gas syringes that include a syringe cap within the packaging. The techniques to CQI provide powerful tools for the identification, solving, and monitoring of safety-related issues within the healthcare environment.
Publisher: Elsevier BV
Date: 12-2012
Publisher: Springer Science and Business Media LLC
Date: 06-2020
Publisher: SAGE Publications
Date: 03-2002
Abstract: Background: We describe a general strategy for optimizing the availability of 'stat' out-of-hours laboratory tests to the particular clinical needs of health care institutions. Methods: We initially introduced a consensus menu of 'stat' tests and prospectively monitored for 5 years all additional requests for 'stat' clinical biochemistry tests in a metropolitan tertiary referral university teaching hospital. Laboratory staff triaged 'stat' requests, and clinical biochemistry consultants reviewed requests not already performed routinely. The frequency of these requests was monitored on a Shewhart 'c' control chart. A quality system certified to ISO 9001 was used to assure laboratory compliance with procedures. Various interventions were tested using the Shewhart 'c' control chart to monitor their effectiveness. Results: Matching the timing of analytical assays with the time of s le collection had no significant effect on the number of 'stat' requests. Implementation of a hospital-wide laboratory information system also had no significant effect on the number of 'stat' requests. The most effective strategy consisted of optimization of the test menu to match request patterns, combined with the introduction of a laboratory quality system. Conclusions: Within our institution, this strategy resulted in a sevenfold reduction in 'stat' requests, from one per 2200 specimens to fewer than one per 32 000 specimens.
Publisher: Oxford University Press (OUP)
Date: 1985
DOI: 10.1093/BIOINFORMATICS/1.4.241
Abstract: A new method of access has been devised for biologists requiring the use of computer programs offering high-resolution analysis and comparison of nucleotide sequence data. The strategy involves the development of a pair of computer programs, called SEQANAL and SEQTALK, designed to operate in tandem. SEQANAL is a large and complex program intended to be used to discover regions of internal repeats and dyad symmetries within one sequence, or regions of homology, complementarity or optimal alignment between two sequences. Three algorithms are supported: those of Staden (1977, 1978) of Korn et al. (1977) Queen and Korn (1980) and the newly-described exhaustive tree-searching algorithm of Burnett et al. (1985, 1986). The SEQTALK program is a small, portable, interactive, front-end program with which the user can specify the instructions to control the SEQANAL program. Together, the SEQANAL and SEQTALK programs permit analyses to be performed at a remote facility on a mainframe computer under the complete control of a distant user equipped with minimal computing facilities, and without needing networking facilities.
Publisher: Elsevier BV
Date: 07-2004
Publisher: Elsevier BV
Date: 09-1986
DOI: 10.1016/S0022-2828(86)80013-X
Abstract: Human cardiac muscle has been studied to determine whether the ratio of cardiac alpha-actin to skeletal alpha-actin varies between the different chambers of the human heart taken from a single in idual. Using mRNA dot-blots, and DNA probes specific for the cardiac and skeletal alpha-actin isotypes, we have found that both cardiac and skeletal alpha-actin mRNAs are present and co-expressed throughout the human heart. The pattern of alpha-actin co-expression in the left and right ventricles and in the interventricular septum is approximately the same, with cardiac alpha-actin being the dominant isotype (approx. 80% of total). However, the left atrium has a different relative composition of the two actins, with an even higher level of cardiac alpha-actin expression (95% of total).
Publisher: Springer Science and Business Media LLC
Date: 11-01-2023
DOI: 10.1038/S41431-022-01251-2
Abstract: A Community Genetics carrier screening program for the Jewish community has operated on-site in high schools in Sydney (Australia) for 25 years. During 2020, in response to the COVID-19 pandemic, government-mandated social-distancing, ‘lock-down’ public health orders, and laboratory supply-chain shortages prevented the usual operation and delivery of the annual testing program. We describe development of three responses to overcome these challenges: (1) pivoting to online education sufficient to ensure informed consent for both genetic and genomic testing (2) development of contactless telehealth with remote training and supervision for collecting genetic s les using buccal swabs and (3) a novel patient and specimen identification ‘GeneTrustee’ protocol enabling fully identified clinical-grade specimens to be collected and DNA extracted by a research laboratory while maintaining full participant confidentiality and privacy. These telehealth strategies for education, consent, specimen collection and s le processing enabled uninterrupted delivery and operation of complex genetic testing and screening programs even amid pandemic restrictions. These tools remain available for future operation and can be adapted to other programs.
Publisher: Springer Science and Business Media LLC
Date: 10-2002
Publisher: Oxford University Press (OUP)
Date: 1986
DOI: 10.1093/NAR/14.1.47
Abstract: A new strategy for high-resolution nucleotide sequence analysis has been developed. The strategy involves an exhaustive tree-searching algorithm which examines all possible combinations of short regions of sequence alignments, followed by culling of unsuitable sequence relationships. The new algorithm can detect sequence homologies invisible to existing algorithms, and is capable of detecting all possible sequence relationships.
Publisher: Elsevier BV
Date: 03-2015
DOI: 10.1038/GIM.2014.94
No related grants have been discovered for Leslie Burnett.