Since the publication of the draft human genome in 2000 there has been a rapid international emergence of biobanks. They are an essential resource for the realisation of more effective ways of diagnosing, preventing diseases and advancing new therapeutic regimes via pharmacogenomics in the postgenomic age. Comprised of tissue banks and human genetic research databases that can be linked with related medical and personal information, biobanks offer unprecedented opportunities for genetic research and the promise of translational new knowledge in the ways our genes interact with the environment.
Biobanks also present multidimensional ethical, legal, regulatory and social challenges that have been identified by academics, lawyers, ethicists and policy regulators. These challenges include: privacy protection and the interrelated issues of informed consent and the storage and use of archival tissue for research that could not be specified at the time consent for tissue was obtained; data linkage; and the disclosure of information, including the dissemination of research results to tissue donors. These pivotal challenges are the focus of this research thesis.
The sustainability and future contribution of biobanks calls for a revitalised debate to address these ethical, legal and regulatory challenges. Empirical research examining the perceptions of professionals engaged in biobanking, the public as potential donors and tissue bank donors is critical to this debate. This thesis addresses the paucity of empirical studies to date on the perceptions of these key players in Australia and elsewhere. Three studies are presented in the Australian context, adopting questionnaire instruments from the limited overseas studies that have been conducted to date on the ethical and regulatory challenges of biobanking by Hirtzlin et al. and Cousins et al. (Cousins et al., 2005; Hirtzlin et al., 2003).
Study I presents the perceptions of a cross section of professionals (tissue bank managers and clinical research directors) engaged in biobanks in Australia. Responses were received from fourteen members of the Australasian Biospecimens Network (ABN) who completed the online questionnaire developed for this current study in the Australian context. The questionnaire was piloted and modified from an instrument used in the Eurogenbank Study conducted by Hirtzlin et al. (2003). This current research focuses on (i) the nature and scope of biobanks in Australia and (ii) the organisational, legal and ethical issues and challenges recognised by professional engaged in biobanks with reference to issues identified in the literature and comparative findings from the Eurogenbank Study. Particular attention is given to professional perceptions of the impact of current legal and ethical frameworks, restraints and regulatory inconsistencies in relation to the acquisition, management and exchange of samples, and the potential for reform in the future organisation of biobanks.
Findings from Study I reflect many of those presented in the Eurogenbank Study and highlight the imperative for harmonisation and standardisation of procedures and regulatory frameworks relevant to biobanks. Responses from biobank professionals indicate widespread agreement that the fluid and dynamic nature of scientific endeavours involving biobanks and other medical research calls for flexible regulatory frameworks and ethical guidelines rather than stringent legislation. Harmonisation and standardisation of legal and ethical frameworks were reported to encourage uniformity and simplification of procedures. Complementary regulation, nationally and internationally, would facilitate collaboration and offer more timely and effective use of interconnected databases and related resources. Networking among professionals engaged in biobanks in particular was reported by respondents as an excellent way of sharing of knowledge and resources along with engendering deliberations on relevant research governance and practice. The Australasian Biospecimens Network offers a working example of how biobanks can collaborate at a national and international level to provide a forum for addressing the technical, legal, ethical and managerial issues for biobanks.
Study II and Study III examine the perceptions and associated attitudinal predictors of the public, as potential donors, and tissue bank donors towards biobanks and related ethical challenges. The studies involve the participation of 464 members of the public (Study II) and 93 tissue bank donors (Study III) who completed a mail out study questionnaire. The questionnaire used in both studies was developed and piloted for the Australian context, from a validated instrument used by Cousins et al. (2005) in a recent study of over 2,000 members of the Irish public. The current research studies reported response rate(s) of 47% of donors and 68% of public participants who were invited to participate. In terms of age distribution, the public and donor populations in the two studies were relatively matched with the majority of both the donor (71%) and the public respondents (66%) being over 55 years of age (with a mean age of 55 years and 57 years respectively).
The primary findings from Studies II and III focused on the willingness of tissue bank donors and the public to donate tissue for future unspecified research and the attitudes towards a number of key ethical issues for biobanks and related genetic research. Key findings include the following:
(i) The majority of both donors (95%) and public (85%) respondents were willing to allow the use of their excised tissue for future, unspecified research. The majority of donors (69%) and half (50%) of public respondents supported a general consent model when initially asked to consider three models of consent preferences. That is, donors and the public believed it was acceptable to give consent once to allow the use of their tissue to be stored for research and that it was unnecessary to be asked permission for any future use of their tissue for unspecified research, provided that the research had been approved by a Human Research Ethics Committee. Furthermore, a high proportion of both tissue bank donors and the public also agreed that it was acceptable practice to allow use of archival tissue from a deceased person where they did not give permission for their tissue to be used for future research. These findings are consistent with other overseas studies.
(ii) The majority of both donors (68%) and public (59%) respondents supported the linkage of stored tissue samples to clinical and personal data, particularly when given additional information on the benefits of a linked model. Willingness to allow tissue samples to be stored under a linked model was found to be considerably higher than reported among members of the public in the Irish survey by Cousins et al. (2005). These findings were again comparable to those reported among members of the public in the Swedish study by Kettis-Lindblad et al. (2006).
(iii) The majority of both donors (68%) and public respondents (82%) in this study indicated that they desired feedback on overall study results; on their “own potential genetic risk of an inherited disease” (83% of donors and 84% of public respondents); and on their genetic predisposition for a disease, even if it is not treatable (79% of donors and 75% of public respondents). Previous research has indicated that a desire for feedback regarding one’s genetic predisposition for disease varied depending on whether the disease is preventable or treatable.
The findings, mirroring many of those reported in the Irish study, suggest that the general public and donors have more liberal attitudes towards ethical regulation of biobank activities related to consent, use of archival tissue, linkage and disclosure of findings than those presented in the bioethics literature. Indeed the evidence suggests that it would be disrespectful to donors to prevent research being conducted on these samples or to insist on informed consent from living relatives at risk of causing distress to living relatives at a time of loss. Furthermore, the evidence indicates public recognition that such research would be impaired if donated tissue data were not linked to other data.
The key findings from the current empirical research studies have a number of implications:
(i) Biobanking requires community support and trust. Participation in tissue banking related research is a “voluntary, fragile and valuable collective commodity, without which there can be no research” (Cousins et al., 2005). Present frameworks have primarily been constructed by regulatory and legislative bodies with limited knowledge of public perceptions. Consideration should be given to promoting a more deliberative and consultative approach to research governance to develop recommendations that enjoy broad community support.
(ii) Further critical appraisal is warranted of current and potential models of consent, linkage and disclosure of research results involving large scale populations of both the general public and tissue donors. Population genomic research will be hindered if we insist on established norms around consent.
(iii) Further research is essential to address the limitations of the research presented in this thesis. Whilst desirable, it was beyond the scope and resources of this research thesis to recruit large population samples of public and tissue donors to provide more robust statistical comparisons. Future studies are required with sufficient power to be more truly representative samples and provide statistical comparisons between the respective groups and with published overseas studies. To this end, a second tissue donor study is currently underway involving a comparative patient cohort who donated tissue to a cancer research tissue bank. The following areas also warrants further exploration in future studies:
(a) Current models of standard informed consent are not entirely relevant to biobank related research practice. Given the relatively liberal attitudes found in the studies described above, it is argued that once only (general) consent or indeed a consent waiver should be adopted for excess tissue to be stored and used for future unspecified research subject to approval by a Human Research Ethics Committee.
(b) Further empirical research ought to be conducted into the public’s comprehension of the implications of a number of key issues relating to biobank activities including (i) the linkage of tissue and personal data and (ii) the commercialisation and access to data generated by these activities by third parties, including employers and insurance companies under legal and ethical frameworks at the present time and in the future. An attempt should be made to explore the trade offs people are willing to make between privacy protection and personal health benefits.
(c) The emergence of an ethical duty to disclose the results of genetic research calls for timely empirical research. The abundant amount of genetic information that may be generated from biobank related research calls for strategic and informed regulatory guidelines on the disclosure of research results. Researchers and Human Research Ethics Committees would be greatly assisted in relation to making decisions about the appropriate level of disclosure of research findings.
Due consideration should be given to factoring in the clinical validity of results and the context in which tissue bank donors and participants are involved in the research and access to this information under legal and ethical frameworks at the present time and in the future.
This body of work provides original empirical research in the Australian context and highlights the complexity of ethical and regulatory challenges relevant to emerging biobanks nationally and internationally. The inclusion of the perceptions of professionals engaged in tissue banking along with those of tissue donors and the public, as potential donors, in the debate will contribute towards more coherent and balanced regulatory frameworks surrounding biobanks that will protect the rights of human participants in genetic research while supporting scientific endeavours and advancing public health. By addressing a number of the challenges presented by these emerging activities, this research thesis has amplified the timeliness in examining implications for reform and the future contribution of biobanks to the translation of new knowledge and scientific advancement into practice.