Seeking security with personal genome testing

Savard, Jacqueline1, Mooney-Somers, Julie1, Newson, Ainsley J1, Kerridge, Ian1

1 Centre for Values, Ethics and the Law in Medicine, School of Public Health, The University of Sydney, Level 1, Medical Foundation Building (K25), 92-94 Parramatta Road, Camperdown, NSW, 2006

Advances in genetics and genomics provide new and powerful ways for individuals to understand their past and predict their futures. Increasingly, personal genetic information can be accessed in a number of ways. Direct-to-consumer genetic information sourced from the marketplace is one such method that is heavily and directly promoted to consumers. While this can be seen as an inevitable and valuable democratization and dissemination of biomedical knowledge, it is not unproblematic. Importantly, there is often a discrepancy between consumer expectations of what personal genome tests may provide and the explanatory power that they find they have.

In this presentation, we will draw on findings from a mixed methods research project that explored Australian consumers’ beliefs, knowledge, expectations and experiences of direct- to-consumer personal genome testing (DTCPGT). This research involved a public survey, in-depth qualitative interviews with consumers of DTCPGT and an autoethnography.

The results of this research reveal that while DTCPGT may have value, both for consumers and for society, this is contextually dependent. Importantly, we claim that seeking DTCPGT is best understood as a risk ritual, enabling ‘securitization.’ That is, an individual will seek genetic knowledge about their self through DTCPGT because they believe it will enable them to confirm ‘certainties’ about their life and to decrease ‘uncertainties’.

The implications of this process illustrate the reality of that DTCPGT. That is, instead of decreasing uncertainty, it often reinforces unknowns for consumers of DTCPGT. This is in part because the scientific knowledge is still limited and because this kind of data always reveals different forms of uncertainty. We may also place too much faith in the relevance and power of genetic information while, at times, overlooking the importance of our social networks and life-stories.


Biography

Dr. Jacqueline Savard is a postdoctoral researcher at the Centre for Values, Ethics and the Law in Medicine (VELiM) at the University of Sydney. Her research focuses on the ethics of  personal genomics in Australia.  She is part of a nation-wide research project (GeniOz), funded by the Australian Research Council, to study Australian perspectives on genomics.

Going global: The ethics of biobanks in the context of globalisation

Paul H. Mason1, Wendy Lipworth2, Ian Kerridge3

1 Centre for Values, Ethics and the Law in Medicine, Level 1, Medical Foundation Building K25, The University of Sydney, NSW, 2006, paul.mason@sydney.edu.au
2 Centre for Values, Ethics and the Law in Medicine, Level 1, Medical Foundation Building K25, The University of Sydney, NSW, 2006, wendy.lipworth@sydney.edu.au
3 Centre for Values, Ethics and the Law in Medicine, Level 1, Medical Foundation Building K25, The University of Sydney, NSW, 2006, ian.kerridge@sydney.edu.au

Biobanks of human tissue and data have become an established part of the research landscape—enabling molecular research into the aetiology, course and therapy of many diseases. The extensively described ethical issues that surround biobanking include: 1) informed consent and right to withdraw; 2) confidentiality and protection from discrimination; 3) controlling data access; 4) equity, reciprocity and benefit sharing; 5) ownership, commercialization and intellectual property rights, 6) community engagement; and 7) respect for cultural diversity. Specialists broadly agree that addressing these issues is crucial to establishing and maintaining trust between biobanks and the general public, and fostering altruism among tissue donors.

The biobank landscape is, however, changing, as the pull of “big data” drives biobanks to “go global”. This amplifies the ethical issues that apply to localized biobanks, and introduces new and complex ethical considerations. For example, the heterogeneity of technical standards and practices across diverse settings challenges the validity and reliability of data analysis; the financial cost of maintaining biobank facilities can encourage commercial arrangements that impact upon benefit sharing; and the transfer of human biological samples across national boundaries can complicate the custodianship of tissue, return of results, and right to withdraw.

The ethicolegal, scientific and practical challenges of international biobank networks are heightened by the fact that there is more than one way for a biobank to “go global”. For example, biobanks can centralize their resources and collect samples from numerous countries; share data through virtual networks across several countries; or distribute and compartmentalize activities in different locations. The specific ways in which transnational biobank networks are formed can give rise to idiosyncratic ethical issues. We argue that it is critical that bioethicists engage with these complexities, and that theories of globalisation provide a valuable political frame through which the ethics of international bionetworks may be understood.


Biography

Paul Mason completed undergraduate studies in biomedical science at Melbourne University and a PhD in cultural anthropology at Macquarie University. He has conducted ethnographic research with arts communities in Indonesia and Brazil, religious minorities in Brazil and India, and tuberculosis patients in Vietnam. His work has been published in the Handbook of Neuroethics, the Journal of Bioethical Inquiry, the Journal of Biosocial Science among other academic journals. He is currently conducting research on the ethics of biobanks in the context of globalisation at the Centre for Values, Ethics and the Law in Medicine at the University of Sydney.

Research ethics consultation services as a strategy for dealing with return of secondary findings of genetic research

Dr Lisa Eckstein1

1 Faculty of Law, University of Tasmania, Private Bag 89, Hobart TAS 7001, lisa.eckstein@utas.edu.au

Research ethics consultation (REC) is ‘an advisory activity available throughout the lifecycle of a study’ involving ‘interaction between researchers or other stakeholders in the research enterprise and one or more individuals knowledgeable about the ethical considerations in research’.[1] The purpose of REC is to identify and analyse ethical issues, and make non-binding recommendations about a course of action.[2] Services operate independently to the regulatory review conducted by Human Research Ethics Committees (HRECs) and equivalent international bodies. Although REC services have been established in a number of United States institutions, they remain in their infancy in Australia. Ethical issues arising from emerging technologies, such as the return of secondary findings from next-generation genomic sequencing, provide an opportunity to consider an expanded role for REC in Australia.

Several features of the return of secondary genetic research findings make REC especially attractive. First, disclosure decisions implicate a broad range of ethical principles and values. Which principle or value is prioritised can lead to vastly different criteria for return. Non-binding, expert advice allows researchers to deliberate on the ethical principles most relevant to their research in the very early stages of development. This provides an informed platform from which researchers can draft the ‘ethically defensible plan (EDP)’ required for compliance with the National Statement on Ethical Conduct in Human Research.[3] Considerable time and expertise is also necessary to apply an EDP to specific secondary findings that emerge during the course of research. For example, how should we interpret criteria that results with ‘clinical value’ should be returned in the context of a sex chromosome abnormality like klinefelter syndrome? Should a determination take into account any harms of return, such as a potential non-paternity discovery should a man with children learn that his genotype is associated with infertility? These kinds of deliberations fall outside the current role and capacity of most HRECs.

This presentation will advocate for the introduction of an REC service in Australia; in particular, to deal with ethical issues raised by emerging technologies such as next-generation genetic sequencing. It will go on to canvass the potential operation of such a service and associated financial and practical costs.

[1] Laura M Beskow et al, ‘Points to Consider: The Research Ethics Consultation Service and the IRB’ (2009) 31 IRB 1.

[2] Ibid.

[3] Australian Government National Health and Medical Research Council, ‘National Statement on Ethical Conduct in Human Research’ (2007) 3.5.1.


Biography

Lisa received undergraduate degrees in law and genetics from the University of New South Wales in 2003. After receiving her Masters of Health Law from the University of Sydney, Lisa completed a Doctor of Juridical Science at Georgetown University Law Center and a post-doctoral fellowship in the Department of Bioethics at the National Institutes of Health. Lisa’s research focuses on the ethical and legal implications of genetic and other medical research. Particular interests include strategies for gaining and assessing participant consent, the disclosure of genetic research findings, clinical trial monitoring, and racially targeted biomedical research.

About the Association

The Australasian Association of Bioethics and Health Law (AABHL) was formed in 2009.

It encourages open discussion and debate on a range of bioethical issues, providing a place where people can ask difficult questions about ideas and practices associated with health and illness, biomedical research and human values.

The AABHL seeks to foster a distinctive Australasian voice in bioethics, and provide opportunities for international engagement through its membership, journal and conferences.

Members come from all the contributing humanities, social science and science disciplines that make up contemporary bioethics.

Many members have cross-disciplinary interests and all seek to broaden the dialogues in which all members of the wider community ultimately have an interest.

The AABHL is a supportive, creative and challenging community that provides a rich source of continuing academic refreshment and renewal.

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