St John of God HealthCare
St John of God HealthCare
Johns A.L.,Garvan Institute of Medical Research |
McKay S.H.,Garvan Institute of Medical Research |
Humphris J.L.,Garvan Institute of Medical Research |
Pinese M.,Garvan Institute of Medical Research |
And 132 more authors.
Genome Medicine | Year: 2017
Background: The return of research results (RoR) remains a complex and well-debated issue. Despite the debate, actual data related to the experience of giving individual results back, and the impact these results may have on clinical care and health outcomes, is sorely lacking. Through the work of the Australian Pancreatic Cancer Genome Initiative (APGI) we: (1) delineate the pathway back to the patient where actionable research data were identified; and (2) report the clinical utilisation of individual results returned. Using this experience, we discuss barriers and opportunities associated with a comprehensive process of RoR in large-scale genomic research that may be useful for others developing their own policies. Methods: We performed whole-genome (n = 184) and exome (n = 208) sequencing of matched tumour-normal DNA pairs from 392 patients with sporadic pancreatic cancer (PC) as part of the APGI. We identified pathogenic germline mutations in candidate genes (n = 130) with established predisposition to PC or medium-high penetrance genes with well-defined cancer associated syndromes or phenotypes. Variants from candidate genes were annotated and classified according to international guidelines. Variants were considered actionable if clinical utility was established, with regard to prevention, diagnosis, prognostication and/or therapy. Results: A total of 48,904 germline variants were identified, with 2356 unique variants undergoing annotation and in silico classification. Twenty cases were deemed actionable and were returned via previously described RoR framework, representing an actionable finding rate of 5.1%. Overall, 1.78% of our cohort experienced clinical benefit from RoR. Conclusion: Returning research results within the context of large-scale genomics research is a labour-intensive, highly variable, complex operation. Results that warrant action are not infrequent, but the prevalence of those who experience a clinical difference as a result of returning individual results is currently low. © 2017 The Author(s).
Grizzle W.E.,University of Alabama at Birmingham |
Clark B.J.,Qatar Foundation |
Zeps N.,St John Of God Healthcare |
Zeps N.,University of Western Australia
Genetics in Medicine | Year: 2012
Whether or not to give research results back to individuals whose specimens are used for biomedical research is a subject of considerable controversy. Much of the debate has been focused around the ethical and legal concerns with some consideration of broader social issues such as whether or not people will be affected by such information for employment or health care. Much less attention has been paid to biobanks that collect the specimens used to generate the research findings and the issues and operational requirements for implementing return of individual research results. In this article, we give the biobanks' perspective and highlight that given the diversity among the types of biobanks, it may be difficult to design and implement a blanket policy in this complex area. We discuss the variability in the types of biobanks and some important issues that should be considered in determining whether or not research results should be provided to individuals whose specimens are used in biomedical research. We also discuss challenges that should be considered in implementing any approaches to the return of research results. ©American College of Medical Genetics and Genomics.
Ecker J.,St John of God Healthcare |
Ecker J.,Hand and Upper Limb Center |
Ebert J.R.,University of Western Australia |
Taheri A.,Joondalup Orthopaedic Group |
And 3 more authors.
Journal of Shoulder and Elbow Surgery | Year: 2015
Background: The purpose of this study was to document the existence of transverse cords in olecranon bursae in patients undergoing excision of the bursa and to describe the unique clinical presentation of patients with these cords. Methods: A retrospective study was performed on 24 patients who had surgery to excise an olecranon bursa between 2006 and 2011. The patient's history, preoperative radiographs, ultrasound images, intraoperative photographs, and findings on histologic analysis were reviewed in all cases. Results: Nine olecranon bursae had cords (cord group) and 15 did not have cords (noncord group). All patients in the cord group were male manual laborers, and nearly all had olecranon enthesophytes (n = 8). Patients in the noncord group had associated medical conditions or an infection. A higher level of satisfaction was reported in the noncord group after surgical excision. Conclusion: This study documents the existence of transverse cords oriented at right angles to the long axis of the olecranon. Olecranon bursae with cords have a unique presentation and are found in male manual workers, are nearly always associated with an olecranon enthesophyte, and do not present with infections. © 2015 Journal of Shoulder and Elbow Surgery Board of Trustees.
McLaren S.,University of Western Australia |
Arfuso F.,Curtin University Australia |
Zeps N.,University of Western Australia |
Zeps N.,St John of God HealthCare |
Dharmarajan A.,Curtin University Australia
Journal of Analytical Oncology | Year: 2014
The Wnt signalling pathway is involved in regulating cellular proliferation and differentiation, and aberrant activation has been described in several cancers including breast. Oestradiol up regulates Wnt pathway gene expression, and thereby activates the Wnt signalling pathway. We used the oestrogen-responsive breast cancer cell line MCF-7 to examine the effects of secreted frizzled related protein 4 (sFRP-4) on oestradiol-induced growth, including gene expression of the Wnt signalling pathway genes Frizzled Receptor, Wnt-10b, and β-catenin. We demonstrate here that sFRP-4 inhibits oestradiol-induced cell growth in the MCF-7 cell line and also down regulates oestradiol-induced expression of selected Wnt signalling genes including β-catenin. We propose that sFRP-4 is a potent inhibitor of the Wnt signalling pathway and may negatively regulate oestradiol-mediated proliferation in human breast cancer cells. © 2014 Lifescience Global.
Watson P.H.,University of British Columbia |
Watson P.H.,British Columbia BC Cancer Agency |
Watson P.H.,British Columbia Cancer Agency Deeley Research Center |
Watson P.H.,BC Cancer Agency |
And 18 more authors.
Biopreservation and Biobanking | Year: 2014
Each year funding agencies and academic institutions spend millions of dollars and euros on biobanking. All funding providers assume that after initial investments biobanks should be able to operate sustainably. However the topic of sustainability is challenging for the discipline of biobanking for several major reasons: the diversity in the biobanking landscape, the different purposes of biobanks, the fact that biobanks are dissimilar to other research infrastructures and the absence of universally understood or applicable value metrics for funders and other stakeholders. In this article our aim is to delineate a framework to allow more effective discussion and action around approaches for improving biobank sustainability. The term sustainability is often used to mean fiscally self-sustaining, but this restricted definition is not sufficient for biobanking. Instead we propose that biobank sustainability should be considered within a framework of three dimensions - financial, operational, and social. In each dimension, areas of focus or elements are identified that may allow different types of biobanks to distinguish and evaluate the relevance, likelihood, and impact of each element, as well as the risks to the biobank of failure to address them. Examples of practical solutions, tools and strategies to address biobank sustainability are also discussed. © Mary Ann Liebert, Inc.