Melbourne Law School - Research Publications
Permanent URI for this collection
Search Results
1 - 10 of 36
-
ItemTrends and Challenges in Biobanking(Federation Press, 2017)The last twenty years have seen the emergence of the phenomena of biobanks, which are now regarded as essential research infrastructure in most countries around the world. However, the very nature of biobanks, as long-term repositories of sample and data that are used for many different research purposes continues to challenge many of the legal requirements for medical research, both in the UK and Australia. This chapter will provide an overview of biobanking and discuss some of the legal challenges that these activities raise by discussing and comparing the UK and Australian legal landscapes.
-
ItemConsent for Data Processing under the General Data Protection Regulation: Could ‘Dynamic Consent’ be a Useful Tool for Researchers?(Henry Stewart Publishing, 2019)The General Data Protection Regulation (GDPR) sets the bar high for consent for the processing of personal data. In the UK, researchers have been directed to rely on legal bases other than consent for processing personal data for research purposes. Informed consent, nonetheless, and despite certain shortcomings, holds a central position in ethical research practice, as well as at common law, and in a range of other legislation dealing with research involving humans. This paper evaluates the place of informed consent in research following the GDPR’s implementation, arguing that a fresh approach to consent — specifically the concept known as ‘dynamic consent’ — could provide a way for researchers to meet the new European regulatory requirements for data processing while adhering to the highest ethical standards for research conduct. It analyses dynamic consent according to specific GDPR requirements and reflects on practical examples that could inform future implementation of the approach, while remaining aware of the need for further empirical research.
-
ItemNo Preview AvailableDynamic Consent and Biobanking: A Means of Fostering Sustainability(Edward Elgar Publishing Ltd, 2019)Biobanks are rich repositories of biological materials (such as DNA) and other health and demographic data, often collected over a long period, that can be used for a variety of research purposes to improve the health of individuals and populations. It is important that the value of biobanks is maximized, but at this point in time there are a number of challenges to achieving this. There is continued debate over the most appropriate mode of gaining consent from people who contribute tissue samples and data to biobanks, which will uphold high ethical standards and enable autonomous decisionmaking.
-
ItemHealth Data Linkage for UK Public Interest Research: Key Obstacles and Solutions.(Swansea University, 2019-04-02)INTRODUCTION: Analysis of linked health data can generate important, even life-saving, insights into population health. Yet obstacles both legal and organisational in nature can impede this work. APPROACH: We focus on three UK infrastructures set up to link and share data for research: the Administrative Data Research Network, NHS Digital, and the Secure Anonymised Information Linkage Databank. Bringing an interdisciplinary perspective, we identify key issues underpinning their challenges and successes in linking health data for research. RESULTS: We identify examples of uncertainty surrounding legal powers to share and link data, and around data protection obligations, as well as systemic delays and historic public backlash. These issues require updated official guidance on the relevant law, approaches to linkage which are planned for impact and ongoing utility, greater transparency between data providers and researchers, and engagement with the patient population which is both high-profile and carefully considered. CONCLUSIONS: Health data linkage for research presents varied challenges, to which there can be no single solution. Our recommendations would require action from a number of data providers and regulators to be meaningfully advanced. This illustrates the scale and complexity of the challenge of health data linkage, in the UK and beyond: a challenge which our case studies suggest no single organisation can combat alone. Planned programmes of linkage are critical because they allow time for organisations to address these challenges without adversely affecting the feasibility of individual research projects.
-
ItemThe Governance Structure for Data Access in the DIRECT Consortium: An Innovative Medicines Initiative (IMI) Project(Springer, 2018)Biomedical research projects involving multiple partners from public and private sectors require coherent internal governance mechanisms to engender good working relationships. The DIRECT project is an example of such a venture, funded by the Innovative Medicines Initiative Joint Undertaking (IMI JU). This paper describes the data access policy that was developed within DIRECT to support data access and sharing, via the establishment of a 3-tiered Data Access Committee. The process was intended to allow quick access to data, whilst enabling strong oversight of how data were being accessed and by whom, and any subsequent analyses, to contribute to the overall objectives of the consortium.
-
ItemDirect-to-consumer genetic testing for predicting sports performance and talent identification: Consensus statement(BMJ PUBLISHING GROUP, 2015-12)The general consensus among sport and exercise genetics researchers is that genetic tests have no role to play in talent identification or the individualised prescription of training to maximise performance. Despite the lack of evidence, recent years have witnessed the rise of an emerging market of direct-to-consumer marketing (DTC) tests that claim to be able to identify children's athletic talents. Targeted consumers include mainly coaches and parents. There is concern among the scientific community that the current level of knowledge is being misrepresented for commercial purposes. There remains a lack of universally accepted guidelines and legislation for DTC testing in relation to all forms of genetic testing and not just for talent identification. There is concern over the lack of clarity of information over which specific genes or variants are being tested and the almost universal lack of appropriate genetic counselling for the interpretation of the genetic data to consumers. Furthermore independent studies have identified issues relating to quality control by DTC laboratories with different results being reported from samples from the same individual. Consequently, in the current state of knowledge, no child or young athlete should be exposed to DTC genetic testing to define or alter training or for talent identification aimed at selecting gifted children or adolescents. Large scale collaborative projects, may help to develop a stronger scientific foundation on these issues in the future.
-
ItemA global reference for human genetic variation(NATURE PUBLISHING GROUP, 2015-10-01)The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations. Here we report completion of the project, having reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-coverage whole-genome sequencing, deep exome sequencing, and dense microarray genotyping. We characterized a broad spectrum of genetic variation, in total over 88 million variants (84.7 million single nucleotide polymorphisms (SNPs), 3.6 million short insertions/deletions (indels), and 60,000 structural variants), all phased onto high-quality haplotypes. This resource includes >99% of SNP variants with a frequency of >1% for a variety of ancestries. We describe the distribution of genetic variation across the global sample, and discuss the implications for common disease studies.
-
ItemThe European General Data Protection Regulation: challenges and considerations for iPSC researchers and biobanks(FUTURE MEDICINE LTD, 2017-09)Increasingly, human induced pluripotent stem cells (iPSC) and their associated genetic and clinical information are being used in a wide range of applications, with large biobanks being established to support and increase their scientific use. The new European General Data Protection Regulations, which comes into effect in 2018, will have implications for biobanks that generate, store and allow research access to iPSC. This paper describes some of the challenges that iPSC biobanks face and suggests some points for the development of appropriate governance structures to address these new requirements. These suggestions also have implications for iPSC research in general.
-
ItemRare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity.(Springer Science and Business Media LLC, 2017-06-29)Obesity is a genetically heterogeneous disorder. Using targeted and whole-exome sequencing, we studied 32 human and 87 rodent obesity genes in 2,548 severely obese children and 1,117 controls. We identified 52 variants contributing to obesity in 2% of cases including multiple novel variants in GNAS, which were sometimes found with accelerated growth rather than short stature as described previously. Nominally significant associations were found for rare functional variants in BBS1, BBS9, GNAS, MKKS, CLOCK and ANGPTL6. The p.S284X variant in ANGPTL6 drives the association signal (rs201622589, MAF~0.1%, odds ratio = 10.13, p-value = 0.042) and results in complete loss of secretion in cells. Further analysis including additional case-control studies and population controls (N = 260,642) did not support association of this variant with obesity (odds ratio = 2.34, p-value = 2.59 × 10-3), highlighting the challenges of testing rare variant associations and the need for very large sample sizes. Further validation in cohorts with severe obesity and engineering the variants in model organisms will be needed to explore whether human variants in ANGPTL6 and other genes that lead to obesity when deleted in mice, do contribute to obesity. Such studies may yield druggable targets for weight loss therapies.
-
ItemExploring the potential duty of care in clinical genomics under UK law(Sage Publications, 2017)