Don Chalmers

Data Sharing in the Post-Genomic World: The Experience of the International Cancer Genome Consortium (ICGC) Data Access Compliance Office (DACO)

The scientific community, research funders, and governments have repeatedly recognized the importance of open access to genomic data for scientific research and medical progress [1]–[4]. Open access is becoming a well-established practice for large-scale, publicly funded, data-intensive community science projects, particularly in the field of genomics. Given this consensus, restrictions to open access should be regarded as exceptional and treated with caution. Yet, several developments [5] have led scientists and policymakers to investigate and implement open access restrictions [5]–[9]. Notably, there are privacy concerns within the genomics community and critiques from some researchers that open access, if left completely unregulated, could raise significant scientific, ethical, and legal issues (e.g., quality of the data, appropriate credit to data generators, relevance of the system for small and medium projects, etc.) [1]–[10]. A recent paper by Greenbaum and colleagues in this journal [11] identified protecting the privacy of study participants as the main challenge to open genomic data sharing. One possible way to reconcile open data sharing with privacy concerns is to use a tiered access system to separate access into “open” and “controlled.” Open access remains the norm for data that cannot be linked with other data to generate a dataset that would uniquely identify an individual. A controlled access mechanism, on the other hand, regulates access to certain, more sensitive data (e.g., detailed phenotype and outcome data, genome sequences files, raw genotype calls) by requiring third parties to apply to a body (e.g., custodian, original data collectors, independent body, or data access committee) and complete an access application that contains privacy safeguards. This mechanism, while primarily designed to protect study participants, can also be used to protect investigators, database hosting institutions, and funders from perceptions or acts of favoritism or impropriety. The experience of controlled access bodies to date has been only minimally documented in the literature [9], [12]. To address this lacuna, we present the experience of the Data Access Compliance Office (DACO) of the International Cancer Genome Consortium (ICGC). The goal is to provide information on this increasingly important type of database governance body.

ELSI 2.0 for Genomics and Society

We need an international infrastructure for the ethical, legal, and social implications of genomic research. Anticipating and addressing the ethical, legal, and social implications (ELSI) of scientific developments has been a key feature of the genomic research agenda (1–4). Research in genomics is advancing by developing common infrastructures and research platforms, open-access and sharing policies, and new forms of international collaborations (5–12). In this paper, we outline a proposal to establish a “collaboratory” (13) for ELSI research to enable it to become more coordinated, responsive to societal needs, and better able to apply the research knowledge it generates at the global level. Current ELSI research is generally nationally focused, with investigator-initiated approaches that are not always aligned with the developments in international genomics research. This makes it difficult to efficiently leverage findings that impact global practice and policy. Moreover, as translational genomic research design challenges become more pressing (14), ELSI research will need to develop greater capacity to respond rapidly to new developments. The ELSI 2.0 Initiative is designed to catalyze international collaboration in ELSI genomics and to enable those in the field to better assess the impact and dynamics of global genome research.

Commercialisation of biotechnology: public trust and research

The success of the biotechnology revolution depends on an array of interwoven factors, not the least of which is the protection, preservation and promotion of public trust in the science, the scientists and the regulators. This paper considers some of the areas in which the commercialisation of biotechnology research may affect public trust. The increasing involvement of the private sector in basic research and the need for the public sector to commercialise its research has resulted in a blurring of the divide between the two sectors. The expanding public and private partnerships are creating an elision between the two sectors. In biotechnology, knowledge itself has become commodified and subject to confidentiality agreements and patent protections. These trends are challenging the traditional science norms of universalism, collegiality, disinterestedness and organised scepticism. These trends may equally have a detrimental flow on effect in relation to public trust in science. This paper considers and emphasises the appropriate roles of regulation, public consultation and corporate social responsibility and benefit sharing in protecting and restoring the key factor of public trust.

Has the biobank bubble burst? Withstanding the challenges for sustainable biobanking in the digital era

Biobanks have been heralded as essential tools for translating biomedical research into practice, driving precision medicine to improve pathways for global healthcare treatment and services. Many nations have established specific governance systems to facilitate research and to address the complex ethical, legal and social challenges that they present, but this has not lead to uniformity across the world. Despite significant progress in responding to the ethical, legal and social implications of biobanking, operational, sustainability and funding challenges continue to emerge. No coherent strategy has yet been identified for addressing them. This has brought into question the overall viability and usefulness of biobanks in light of the significant resources required to keep them running. This review sets out the challenges that the biobanking community has had to overcome since their inception in the early 2000s. The first section provides a brief outline of the diversity in biobank and regulatory architecture in seven countries: Australia, Germany, Japan, Singapore, Taiwan, the UK, and the USA. The article then discusses four waves of responses to biobanking challenges. This article had its genesis in a discussion on biobanks during the Centre for Health, Law and Emerging Technologies (HeLEX) conference in Oxford UK, co-sponsored by the Centre for Law and Genetics (University of Tasmania). This article aims to provide a review of the issues associated with biobank practices and governance, with a view to informing the future course of both large-scale and smaller scale biobanks.

Community Engagement for Big Epidemiology: Deliberative Democracy as a Tool

Public trust is critical in any project requiring significant public support, both in monetary terms and to encourage participation. The research community has widely recognized the centrality of public trust, garnered through community consultation, to the success of large-scale epidemiology. This paper examines the potential utility of the deliberative democracy methodology within the public health research setting. A deliberative democracy event was undertaken in Tasmania, Australia, as part of a wider program of community consultation regarding the potential development of a Tasmanian Biobank. Twenty-five Tasmanians of diverse backgrounds participated in two weekends of deliberation; involving elements of information gathering; discussion; identification of issues and formation of group resolutions. Participants demonstrated strong support for a Tasmanian Biobank and their deliberations resulted in specific proposals in relation to consent; privacy; return of results; governance; funding; and, commercialization and benefit sharing. They exhibited a high degree of satisfaction with the event, and confidence in the outcomes. Deliberative democracy methodology is a useful tool for community engagement that addresses some of the limitations of traditional consultation methods.

Genetic Research and Biobanks

Human biobanks, and genetic research databases, as referred to by the Organisation for Economic Co-operation and Development (OECD), are essential tools for modern biomedical research. Biobanks may consist in collections created in clinical diagnosis (such as pathology tissue samples in hospitals) or collections created for large-scale longitudinal research (such as the UK Biobank). Human tissue collections are regulated by a patchwork of national laws. However, there is an increasing international uniformity in national privacy laws based on 1980s OECD standards. There are similar uniform standards developing in national research ethics guidelines. As biobanks develop collaborations and linkages, international harmonisation of legislation and human research regulation will be required across jurisdictions. It is essential that international public trust is maintained in biobanking research.

Capital, trust & consultation: Databanks and regulation in Australia

The new genetics ‘industry’ has emerged at a time of public ambivalence towards science, an ambivalence that could move to outright distrust when the commercial imperatives of increasingly market-oriented science gradually replace the more traditional imperative of ‘public good’. Genetics research and development is at the vanguard of the movement of science into the market economy and, as such, has come under intense public scrutiny. The political and social environment now demands public participation in the development of regulatory structures. Commercialization aims for rapid advances in research, leading to new genetic therapies and other public health benefits. However, this rapid progress has resulted in human tissue banks and genetic databases un(der)regulated in many countries, and challenges to accepted notions of privacy, ownership and consent. This paper presents an outline of the way Australia has embraced public participation in the development of a regulatory framework governing human genetic databanks. It argues that after a two-year, two-stage national inquiry into the protection of genetic information, the country now stands at a crossroads: it either addresses the recommendations of the inquiry—providing a model for the development of public trust in the human genetics industry, and in the state to regulate it, or continues to ignore the recommendations, fostering cynicism regarding the consultation process and an even greater level of distrust in the ability/willingness of the state to regulate the industry.

Public reaction to direct-to-consumer online genetic tests: Comparing attitudes, trust and intentions across commercial and conventional providers

The success of personalised medicine depends upon the public’s embracing genetic tests. Tests that claim to predict an individual’s future health can now be accessed via online companies outside of conventional health regulations. This research assessed the extent to which the public embrace direct-to-consumer (DTC) genetic tests relative to those obtained by a conventional medical practitioner (MP). It also examined the reasons for differences across providers using a randomised experimental telephone survey of 1000 Australians. Results suggest that people were significantly less likely to approve of, and order a DTC genetic test administered by a company compared to a MP because they were less trusting of companies’ being able to protect their privacy and provide them with access to genetic expertise and counselling. Markets for DTC genetic tests provided by companies would therefore significantly increase if trust in privacy protection and access to expertise are enhanced through regulation.

New avenues within community engagement: addressing the ingenuity gap in our approach to health research and future provision of health care

The proliferation of large biorepositories and the staggering advances in our ability to analyse large numbers of human genomes relatively quickly and cost-effectively have been important drivers in the move towards personalised medicine. However, our advances in the development of these tools have outstripped our performance in addressing the issues of ethics and consent surrounding health policy and governance of such repositories, the implications of proliferation of genomic information for the individual and its potential for misuse. Public consultation is urgently needed in the development of ethical guidelines for these emergent issues; however, effective strategies for facilitating community engagement and informed debate have been lacking. Public consultation through deliberative democracy is bringing an essential new dimension to public engagement in the genomic medicine era.

Analysis of five years of controlled access and data sharing compliance at the International Cancer Genome Consortium

Analysis of five years of controlled access and data sharing compliance at the International Cancer Genome Consortium