Alice K. Hawkins

From consent to institutions: Designing adaptive governance for genomic biobanks

Biobanks are increasingly hailed as powerful tools to advance health research. The social and ethical challenges associated with the implementation and operation of biobanks are equally well-documented. One of the proposed solutions to these challenges involves trading off a reduction in the specificity of informed consent protocols with an increased emphasis on governance. However, little work has gone into formulating what such governance might look like. In this paper, we suggest four general principles that should inform biobank governance and illustrate the enactment of these principles in a proposed governance model for a particular population-scale biobank, the British Columbia (BC) Generations Project. We begin by outlining four principles that we see as necessary for informing sustainable and effective governance of biobanks: (1) recognition of research participants and publics as a collective body, (2) trustworthiness, (3) adaptive management, and (4) fit between the nature of a particular biobank and the specific structural elements of governance adopted. Using the BC Generations Project as a case study, we then offer as a working model for further discussion the outlines of a proposed governance structure enacting these principles. Ultimately, our goal is to design an adaptive governance approach that can protect participant interests as well as promote effective translational health sciences.

Structuring Public Engagement for Effective Input in Policy Development on Human Tissue Biobanking

We begin with the premise that human tissue biobanking is associated with ethical ambiguities and regulatory uncertainty, and that public engagement is at least one important element in addressing such challenges. One is then confronted with how to achieve public engagement that is both meaningful and effective. In particular, how can public engagement on the topic of biobanking be implemented so that (a) it is perceived broadly as legitimate and (b) the results of the engagement are relevant and useful to the institutional and regulatory context? In this paper we build on previous work that has addressed the former point and focus primarily on the latter. We argue that one way to increase the likelihood of results of public engagement being taken up in policy is through framing the issues that are deliberated by members of the public based in part on the practical policy questions for which input is sought. In this approach, we move discussion on the social and ethical implications of biobanking from abstract principles, to their consideration in the context of local biobanking practices. This is illustrated using a practical example involving a public engagement conducted to inform institutional policy for biobanking in British Columbia, Canada.

Biobanks: Importance, Implications and Opportunities for Genetic Counselors

Biobanks are collections of human biological tissue specimens and related health data. Biobank research hopes to provide novel insights into the genetic component of disease, ultimately leading to a more personalized approach to healthcare. However, biobanks have sparked debate due to the ethical, legal, and social implications surrounding utilization of population samples and data. These controversies include issues of consent, privacy and confidentiality, return of results and data-sharing. This paper provides an overview of the different types and scope of biobanks and an examination of the most pertinent ethical, legal and social considerations surrounding such research, as well as how some of these concerns are being addressed. The paper finishes with a discussion of the relevance of biobanks to the genetic counseling field and concludes that genetic counselors are in a position to make a unique, educated and practical contribution to the ongoing dialogue and direction of biobank research.

Who owns your poop?: insights regarding the intersection of human microbiome research and the ELSI aspects of biobanking and related studies.

BackgroundWhile the social, ethical, and legal implications of biobanking and large scale data sharing are already complicated enough, they may be further compounded by research on the human microbiome.DiscussionThe human microbiome is the entire complement of microorganisms that exists in and on every human body. Currently most biobanks focus primarily on human tissues and/or associated data (e.g. health records). Accordingly, most discussions in the social sciences and humanities on these issues are focused (appropriately so) on the implications of biobanks and sharing data derived from human tissues. However, rapid advances in human microbiome research involve collecting large amounts of data on microorganisms that exist in symbiotic relationships with the human body. Currently it is not clear whether these microorganisms should be considered part of or separate from the human body. Arguments can be made for both, but ultimately it seems that the dichotomy of human versus non-human and self versus non-self inevitably breaks down in this context. This situation has the potential to add further complications to debates on biobanking.SummaryIn this paper, we revisit some of the core problem areas of privacy, consent, ownership, return of results, governance, and benefit sharing, and consider how they might be impacted upon by human microbiome research. Some of the issues discussed also have relevance to other forms of microbial research. Discussion of these themes is guided by conceptual analysis of microbiome research and interviews with leading Canadian scientists in the field.

A grand challenge: Providing benefits of clinical genetics to those in need

Genetic research, techniques, and knowledge have rapidly expanded in the last two decades with the completion of the Human Genome Project and other major advances in discovery research and diagnostic technologies. Although these developments have obvious potential, they also raise significant challenges related to programs for the actual delivery of useful genetic testing and services. This challenge is particularly acute in rural and remote areas, where lack of access to genetic services is pervasive resulting in significant inequities in access and availability of services. Huntington disease, the classic example of an adult-onset hereditary disorder, is used to illustrate this concern and highlight the imperative of exploring novel mechanisms to improve access to effective genetic services. The components of an effective and practical solution strategy are outlined, including the development of innovative delivery systems such as telemedicine, web-based education tools, and cost-reduction mechanisms. A proactive approach is essential to ensure the potential benefits, and availability of clinical genetics is realized by those in need rather than just those in reach.

Genetic counseling and the ethical issues around direct to consumer genetic testing.

Over the last several years, direct to consumer (DTC) genetic testing has received increasing attention in the public, healthcare and academic realms. DTC genetic testing companies face considerable criticism and scepticism, particularly from the medical and genetic counseling community. This raises the question of what specific aspects of DTC genetic testing provoke concerns, and conversely, promises, for genetic counselors. This paper addresses this question by exploring DTC genetic testing through an ethical lens. By considering the fundamental ethical approaches influencing genetic counseling (the ethic of care and principle-based ethics) we highlight the specific ethical concerns raised by DTC genetic testing companies. Ultimately, when considering the ethics of DTC testing in a genetic counseling context, we should think of it as a balancing act. We need careful and detailed consideration of the risks and troubling aspects of such testing, as well as the potentially beneficial direct and indirect impacts of the increased availability of DTC genetic testing. As a result it is essential that genetic counselors stay informed and involved in the ongoing debate about DTC genetic testing and DTC companies. Doing so will ensure that the ethical theories and principles fundamental to the profession of genetic counseling are promoted not just in traditional counseling sessions, but also on a broader level. Ultimately this will help ensure that the public enjoys the benefits of an increasingly genetic-based healthcare system.

Biobank governance: a lesson in trust

Biobanks are controversial due to their ethical, legal, and social implications. Recent discussion has highlighted a central role for governance in helping to address these controversies. We argue that sustainable governance of biobanks needs to be informed by public discourse. We present an analysis of a deliberative public engagement to explore the public values, concerns, and interests underlying recommendations pertaining to biobank governance. In particular, we identify five themes underlying expressed goals and concerns of participants regarding the development, operation and application of biobank research. Ultimately, we argue that, for the deliberants, governance represented a way to achieve trust in biobanks through accountability, transparency and control. As discussion of biobank governance moves the conceptual to the specific, policy makers and researchers should acknowledge the importance of the public viewpoint in maintaining trust; this acknowledgement is of importance to the ultimate success and longevity of biobanks.

When access is an issue: exploring barriers to predictive testing for Huntington disease in British Columbia, Canada

Predictive testing (PT) for Huntington disease (HD) requires several in-person appointments. This requirement may be a barrier to testing so that at risk individuals do not realize the potential benefits of PT. To understand the obstacles to PT in terms of the accessibility of services, as well as exploring mechanisms by which this issue may be addressed, we conducted an interview study of individuals at risk for HD throughout British Columbia, Canada. Results reveal that the accessibility of PT can be a barrier for two major reasons: distance and the inflexibility of the testing process. Distance is a structural barrier, and relates to the time and travel required to access PT, the financial and other opportunity costs associated with taking time away from work and family to attend appointments and the stress of navigating urban centers. The inflexibility of the testing process barrier relates to the emotional and psychological accessibility of PT. The results of the interview study reveal that there are access barriers to PT that deter individuals from receiving the support, information and counseling they require. What makes accessibility of PT services important is not just that it may result in differences in quality of life and care, but because these differences may be addressed with creative and adaptable solutions in the delivery of genetic services. The study findings underscore the need for us to rethink and personalize the way we deliver such services to improve access issues to prevent inequities in the health care system.

Lessons from predictive testing for Huntington disease: 25 years on

The availability of predictive genetic tests has rapidly expanded in the last two decades. We can now provide testing for a range of adult onset conditions including certain cancers, cardiac diseases, and neurological disorders. These developments have recognised benefit including determining the necessity of additional screening or preventive options, relieving uncertainty, and reproductive planning. However, despite these benefits, predictive tests raise challenges regarding the ethical delivery of genetic testing, results, and services. To respond to these challenges, predictive testing protocols, such as those for Huntington disease (HD), have required several in-person appointments, spread over several weeks or months, in order to undergo counselling, testing, and receive test results.1 Originally, these multi-step, multi-visit protocols were developed to both protect individuals from the potential for serious psychological damage from receiving increased risk results, as well as to ensure that individuals undergoing testing made a fully considered decision. In addition, incorporating …

Managing the Introduction of Biobanks to Potential Participants: Lessons from a Deliberative Public Forum

Ongoing debate exists around how best to manage the issue of informed consent for research involving human tissue biobanks. However, the issue is well recognized and covered in the academic literature. A related and arguably equally important issue that to date has not received much attention is how best to manage the process of identifying and initially contacting individuals for their participation in a biobank. While many population-based biobanks strive for random sampling of healthy participants from the general population, disease-based biobanks usually need to rely on some sort of referral process to achieve specificity for type and subcategories of disease. There are thus numerous ethical implications regarding the way in which this referral process is managed. In this article we begin by providing a brief outline of the nature of the problems associated with the initial introduction between a biobank and potential research participants. We then consider data from a recent public deliberation on the topic of human tissue biobanking. In these discussions, participants were posed questions regarding their views pertaining to the introduction of potential donors to biobanks, and asked to make recommendations to be considered by policy makers in British Columbia, Canada. Based on these data we conclude that there is general agreement that introduction of research biobanks to potential donors should be conducted face to face, and by a medical professional known to the donor, and depending on donor circumstances, is acceptable during either pre- or postoperative periods. The strong preference for the introduction to involve a family physician should be considered in the future design of biobank contact and consent processes.