Human genetic research databases and biobanks: towards uniform terminology and Australian best practice

This article examines international best practice for the establishment, maintenance and use of human genetic research databases (HGRDs), particularly focusing on large-scale population biobanks, and considers the measures that should be taken in Australia to comply with this best practice. These HGRDs play a pivotal role in basic research aimed at understanding the basis of human disease at the genetic level, and applied research aimed at putting that basic knowledge into practical application. In particular, the large-scale biobanks are vital research tools in the drive to uncover the causes and consequences of human health and disease. Biobanks are being established at regional, national and international levels throughout the world. Although their governance structures are uniformly complex, some best practices are emerging with regard to consent (particularly consent to future research and withdrawal of consent), privacy and data protection and intellectual property ownership and access. Best practices with regard to benefit-sharing are emerging much more slowly. This article reviews these international best practices with the aim of providing guidance for the development of appropriate regulatory structures in Australia.     

Population bio-banks: a juridical analysis based on Icelandic and Estonian experience]

Large-scale collections of human biological samples and associated data are becoming increasingly common as a means of identifying, in a particular population, genetic predispositions to complex diseases that result from an interaction of environmental, lifestyle and genetic factors. This paper compares the recent experiences of Iceland and Estonia in the establishment of population biobanks as well as the specific law passed by both countries to deal with this matter. In the light of this comparative analysis, this paper summarizes the main ethical and policy dilemmas posed by large-scale biobanks and suggests some possible solutions to these new challenges.     

Consent forms in genomics: the difference between law and practice

Consent forms are the principal method for obtaining informed consent from biomedical research participants. The significance of these forms is increasing as more secondary research is undertaken on existing research samples and information, and samples are deposited in biobanks accessible to many researchers. We reviewed a selection of consent forms used in European Genome-Wide Association Studies (GWAS) and identified four common elements that were found in every consent form. Our analysis showed that only two of the four most commonly found elements in our sample of informed consent forms were required in UK law. This raises questions about what should be put in informed consent forms for research participants. These findings could be beneficial for the formulation of participant information and consent documentation in the future studies.     

Lessons from European population genetic databases: comparing the law in Estonia, Iceland, Sweden and the United Kingdom

The advent of large-scale, population genetic databases (PGDs) in several countries around the world marks a significant development in human DNA banking and genetic research. The European countries that have led the way in the development of PGDs are Iceland, Sweden, Estonia and the U.K. In legal terms, the emergence of PGDs has been far from straightforward as such projects pose a range of difficult and complex issues for the law to address. This article canvasses the current law in Iceland, Estonia, Sweden and the U.K. on four fundamental issues of principle pertaining to PGDs, in order to illustrate the difficulties that have emerged around PGDs, highlight key areas of legal concern, and shed light on possible ways forward. It compares and contrasts the differing legal positions and lawmakers' responses to date in these four European countries that have established PGDs or are seeking to do so. The four fundamental issues examined are: (1) consent, especially for secondary research purposes; (2) ownership of biological samples, data and databases; (3) the rights of certain third parties to gain access to, and to use, PGD biological samples and data; and (4) benefit sharing, including the provision of feedback and genetic counselling to participants. This analysis may offer some guidance for policymakers in other jurisdictions where PGDs have been proposed or are being established.     

Donation of 'spare' fresh or frozen embryos to research: who decides that an embryo is 'spare' and how can we enhance the quality and protect the validity of consent?

This paper analyses elements of the legal process of consent to the donation of 'spare' embryos to research, including stem-cell research, and makes a recommendation intended to enhance the quality of that process, including on occasion by guarding against the invalidity of such consent. This is important in its own right and also so as to maximise the reproductive treatment options of couples engaged in in vitro fertilisation (IVF) treatment and to avoid possible harms to them. In Part 1, with reference to qualitative data from three UK IVF clinics, we explore the often delicate and contingent nature of what comes to be, for legal purposes, a 'spare' embryo. The way in which an embryo becomes 'spare', with its implications for the process of consent to donation to research, is not addressed in the relevant reports relating to or codes of practice governing the donation of embryos to research, which assume an unproblematic notion of the 'spare' embryo. Significantly, our analysis demonstrates that there is an important and previously unrecognised first stage in the donation of a 'spare' embryo to research, namely: consent to an embryo being 'spare' and so, at the same time, to its disuse in treatment. This is not explicitly covered by the Human Fertilisation and Embryology (HFE) Act 1990, as amended by the HFE Act 2008. Having identified this important initial stage in the process of consent to the donation of a 'spare' embryo to research in conclusion to Part 1, in Part 2 we analyse the idea of consent to an embryo's disuse in treatment on the basis that it is 'spare' with reference to the legal elements of consent, namely information as to nature and purpose, capacity, and voluntariness. We argue that there are in fact three related consent processes in play, of which the principal one concerns consent to an embryo's disuse in treatment. If the quality of this first consent is compromised, in turn this will impact on the quality of the consent to the donation of that 'spare' embryo to research, followed by the quality of consent to future cycles of assisted reproduction treatment in the event that these are needed as a result of a donation decision. The analysis overall is of central relevance to the debate as to whether, and if so when, it should be permissible to request the donation of fresh embryos for research, as opposed to those that have been frozen and, for instance, have reached the end of their statutory storage term. This has a particular bearing on the donation of embryos to stem-cell research since there is a debate as to whether fresh embryos are most useful for this.     

The legal ethics of pediatric research

Since the mid- to late 1990s, the scientific and medical research community has sought to increase its access to healthy children for research protocols that involve harm or a risk of harm. This move reverses longstanding policy within that community generally to exclude healthy children from such protocols on the grounds that the research as to them is non-therapeutic, that they are particularly vulnerable to research-related abuses, and that they are unable themselves to give informed consent to their participation. The research community's new posture has been supported by prominent pediatric bioethicists who have argued that unless healthy children are included as research subjects in harmful or risky research, the pediatric population will continue to suffer relative to the adult population in the extent to which it benefits from modern advances in science and medicine. In their view, it is possible for the research community to self-administer a rule that strikes a balance between protecting healthy children from research-related abuses and allowing their inclusion in cutting-edge pediatric research. In this scheme, parental consent is central to the research community's claims about child protection. This Article explores the flaws inherent in this ethics of pediatric research. Specifically, it challenges the view from ethics that the law permits parents to consent to their children's inclusion in harmful or risky research to the extent that related invasions would meet legal maltreatment standards. More broadly, it challenges the movement to increase access to healthy children for harmful and risky research on the ground that it risks two important regressions: First, in its willingness to risk harm to individual children in the interests of the group, it threatens the progress the law has made in its development of the concept of the child as an individual worthy of respect in his or her own right, a concept that imagines parents as fiduciaries and that includes strong protections against invasions of bodily integrity. Second, in its failure to assure that the burdens of non-therapeutic research are not placed disproportionately on children of lower socioeconomic and minority status, it violates the antidiscrimination principle, which has only begun to make good on its promise of equal treatment for all children. Ultimately, this Article argues that harmonization of the rules governing pediatric research with the law of child protection and parents' consent authority is the best way to assure that children are protected in the research setting in these respects and to the same extent they are otherwise in the society.     

Misusing informed consent: a critique of limitations on research subjects' access to genetic research results

Express denials of access to genetic research results are being drafted into consent instruments. Some commentators suggest that the principle of beneficence can justify such a denial of access. This paper provides an ethical and legal critique of the use of consent instruments to disclaim responsibility for on-going disclosure by genetic researchers. Currently, the law of torts provides only weak protection for on-going disclosure for research subjects. The most substantive rights are to be found in the law of fiduciary obligations. The author concludes that, notwithstanding arguments to the contrary, there should be a presumption of disclosure in genetic research, unless the research subject elects otherwise. The author outlines one possible exception to this general presumption.     

Educational Research and the Protection of Human Subjects

Educational research is increasingly subject to legal restrictions designed for the protection of human subjects of research. In this article the author discusses legal restrictions–both in the courts and under HEW regulations–on educational research, comparing these restrictions with those on biomedical research. He finds that although educational research in particular instances may give rise to suits for damages for invasion of privacy or intentional infliction of psychological distress, the legal issues relating to educational research will most often be resolved in proceedings before institutional review boards charged by HEW with the responsibility for passing upon proposals to conduct research on human subjects. He argues that the interests protected in proceedings before institutional review boards are not limited to those that have received judicial recognition in suits for damages. The author finds that the requirement that the informed consent of subjects be obtained presents difficult issues for educational research. He notes in particular the problems presented by research proposals that as an element of the research design contemplate the observation of subjects without their knowledge and the use of children as research subjects.     

An empirical study of tissue banking in Australia: navigating regulatory and ethical challenges

Collections of tumour samples can be an invaluable resource for medical research. There are, however, numerous ethical and legal challenges associated with tumour banking. While there has been extensive discussion of these issues in the legal and ethical literature, there are few available empirical data in relation to the activities of tumour banks in Australia, their practices around ethically charged issues, and their success in implementing complex regulatory guidelines. The aim of this study was to gain more information about the activities of tumour banks in New South Wales, Australia, with a particular focus on their management of, and attitudes towards, ethical and regulatory issues. A survey of 27 tumour collection and research facilities was conducted using a 55-item questionnaire. There is significant heterogeneity of research methodologies as well as of methods for gaining consent and ensuring donor privacy, and there is general concern among the research community about ethical and regulatory issues related to tumour banking. Heterogeneity of practice and uncertainty about ethical and regulatory requirements is problematic in its potential to hinder research and its potential to generate the space for unethical practice, whether intentional or unintentional. There is a pressing need to address these issues so that tumour banks can be used in the most ethical and efficient way possible.     

A comparative analysis of selected European guidelines and recommendations for biobanks with special regard to the research / non-research distinction.

Classifying an activity as research has considerable normative consequences: On the one side research activities are especially protected ("freedom of research"), on the other side stricter ethical rules legal regulations may apply to such activities, e.g. compulsory review by ethics committees. It is therefore important to find criteria to delimit research from non-research activities. The aim of the present study is to analyse some European guidelines and recommendations for biobanks and to see whether these documents provide comments that help to elucidate the research/non-research distinction.     

Can legitimate interest be an appropriate lawful basis for processing Artificial Intelligence training datasets?

Precision and effectiveness of Artificial Intelligence (AI) models are highly dependent on the availability of genuine, relevant, and representative training data. AI systems tested and validated on poor-quality datasets can produce inaccurate, erroneous, skewed, or harmful outcomes (actions, behaviors, or decisions), with far-reaching effects on individuals' rights and freedoms.Appropriate data governance for AI development poses manifold regulatory challenges, especially regarding personal data protection. An area of concern is compliance with rules for lawful collection and processing of personal data, which implies, inter alia, that using databases for AI design and development should be based on a clear and precise legal ground: the prior consent of the data subject or another specific valid legal basis.Faced with this challenge, the European Union's personal data protection legal framework does not provide a preferred, one-size-fits-all answer, and the best option will depend on the circumstances of each case. Although there is no hierarchy among the different legal bases for data processing, in doubtful cases, consent is generally understood by data controllers as a preferred or default choice for lawful data processing. Notwithstanding this perception, obtaining data subjects' consent is not without drawbacks for AI developers or AI-data controllers, as they must meet (and demonstrate) various requirements for the validity of consent. As a result, data subjects' consent could not be a suitable and realistic option to serve AI development purposes. In view of this, it is necessary to explore the possibility of basing this type of personal data processing on lawful grounds other than the data subject's consent, specifically, the legitimate interest of the data controller or third parties. Given its features, legitimate interests could help to meet the challenge of quality, quantity, and relevance of data curation for AI training.The aim of this article is to provide an initial conceptual approach to support the debate about data governance for AI development in the European Union (EU), as well as in non-EU jurisdictions with European-like data protection laws. Based on the rules set by the EU General Data Protection Regulation (GDPR), this paper starts by referring to the relevance of adequate data curation and processing for designing trustworthy AI systems, followed by a legal analysis and conceptualization of some difficulties data controllers face for lawful processing of personal data. After reflecting on the legal standards for obtaining data subject's valid consent, the paper argues that legitimate interests (if certain criteria are met) may better match the purpose of building AI training datasets.     

The ethical, legal and social implications of umbilical cord blood banking: learning important lessons from the protection of human genetic information

Internationally networked umbilical cord blood banks hold great promise for better clinical outcomes, but also raise a host of potential ethical and legal concerns. There is now significant accumulated experience in Australia and overseas with regard to the establishment of human genetic research databases and tissue collections, popularly known as "biobanks". For example, clear lessons emerge from the controversies that surrounded, stalled or derailed the establishment of some early biobanks, such as Iceland's deCODE, Autogen's Tonga database, a proposed biobank in Newfoundland, Canada, and the proposed Taiwan biobank. More recent efforts in the United Kingdom, Japan, Quebec and Tasmania have been relatively more successful in generating public support, recognising the critical need for openness and transparency, and ample public education and debate, in order to build community acceptance and legitimacy. Strong attention must be paid to ensuring that other concerns--about privacy, discrimination, informed consent, governance, security, commercial fairness and financial probity--are addressed in structural terms and monitored thereafter, in order to maintain public confidence and avoid a backlash that inevitably would imperil such research. Once lost, credibility is very difficult to restore.     

Cultural Challenges to Biotechnology: Native American Genetic Resources and the Concept of Cultural Harm

This article examines the intercultural context of issues related to genetic research on Native peoples. In particular, the article probes the disconnect between Western and indigenous concepts of property, ownership, and privacy, and examines the harms to Native peoples that may arise from unauthorized uses of blood and tissue samples or the information derived from such samples. The article concludes that existing legal and ethical frameworks are inadequate to address Native peoples' rights to their genetic resources and suggests an intercultural framework for accommodation based on theories of intergroup equality and fundamental human rights.     

The doctrine of informed consent: a tale of two cultures and two legal traditions

In this article, the author compares and contrasts the notion of informed consent in medical decision making in the Western legal system with the traditional Jewish biblical legal system. Walter critically examines the philosophical underpinnings of disease and medical healing in both legal systems, and describes the practical consequences that emanate from the different ideologies in terms of the individual's rights of choice of treatment. She explains that the Western system is predicated on notions of individual autonomy and self determination. Patients therefore have the autonomous ability to select and direct their own medical therapy. By contrast, the traditional biblical system of law is based on the concept that the body does not belong to the individual. Instead, the body is given to man by God as a trust to respect and preserve. Therefore, the individual patients "has no absolute right to control his body and ... he has no real decision making power as to medical treatment choices." In the Jewish biblical tradition, consent is not necessary for obviously beneficial or obviously non-beneficial procedures; consent is only necessary in decisions with uncertain outcomes or when making choices between equal options. Patients are encouraged to seek the counsel of religious authorities and to conform to rabbinical interpretations of the traditional Jewish law.     

Population genetic studies: is there an emerging legal obligation to share benefits?

It appears that large-scale population genetic studies are the necessary next step in genomics research. Such studies promise to provide correlative data to permit researchers to understand the etiology of a vast array of complex human diseases. Simultaneously, such studies are increasingly seen as yet another mechanism for the developed world to benefit at the expense of the developing world. In fact, a recent World Health Organization Report suggests that "without explicit attention at the international level, the initial technological fruits of genomics are likely to consist primarily of therapeutic and diagnostic applications for conditions affecting large populations in rich countries." (World Health Organization, Genomics and World Health, 2002). In developed and developing countries alike, there are concerns that the pharmaceutical industry stands to gain at the expense of the population(s) from which population genetic data are derived. In light of the current interest concerning ongoing population genetic studies and an increasing interest by many countries, Canada included, in embarking on large-scale population genetic research, it is appropriate to consider the concept of benefit-sharing as a potential mechanism to assuage these concerns. It is the author's position that by virtue of common law equitable principles and developing norms in international law, including the Human Genome Organization Statement on Benefit-Sharing, that there are principled legal and ethical reasons to compel the sharing of benefits that accrue from the commercialization of the resulting data. Using the United Nations Convention on Biological Diversity and the Bonn Guidelines as a model, I suggest that appropriate benefit-sharing mechanisms have been considered in the context of non-human biological materials and that these same mechanisms may be applicable in the context of international and intra-national population genetic studies.     

PGTandMe: social networking-based genetic testing and the evolving research model

The opportunity to use extensive genetic data, personal information, and family medical history for research purposes may be naturally appealing to the personal genetic testing (PGT) industry, which is already coupling direct-to-consumer (DTC) products with social networking technologies, as well as to potential industry or institutional partners. This article evaluates the transformation in research that the hybrid of PGT and social networking will bring about, and--highlighting the challenges associated with a new paradigm of "patient-driven" genomic research--focuses on the consequences of shifting the structure, locus, timing, and scope of research through genetic crowd-sourcing. This article also explores potential ethical, legal, and regulatory issues that arise from the hybrid between personal genomic research and online social networking, particularly regarding informed consent, institutional review board (IRB) oversight, and ownership/intellectual property (IP) considerations.     

Understanding Acts of Consent: Using Speech Act Theory to Help Resolve Moral Dilemmas and Legal Disputes

Understanding what it means toconsent is of considerable importance sincesignificant moral issues depend on how this actis defined. For instance, determining whetherconsent has occurred is the deciding factor insexual assault cases; its proper occurrence isa necessary condition for federally fundedhuman subject research. Even though mosttheorists recognize the legal and moralimportance of consent, there is still littleagreement concerning how consent should bedefined, or whether different domains involvingconsent demand context-specific definitions.Understanding what it means to consent isfurther complicated by the fact that currentlegal conceptions are not necessarily groundedin argument; they typically depend on appealsto authority and precedent. The purpose ofthis paper is to use speech act theory toprovide a theoretically grounded conception ofconsent; such a conception can aid in the justresolution of legal and moral disputes thathinge on whether an act of consent occurred.     

The Concept of Law and Its Conceptions

Abstract. In this paper, I make an attempt to look for a thin and general concept of law that, as far as possible, should be neutral to the more substantial views of legal moralism and legal positivism, so that it is acceptable from both points of view. With this aim in view, I shall begin with a few remarks on concept formation and name a list of necessary requirements on an appropriate concept of law. On this basis, I intend to discuss a number of contemporary legal theories in view to their respective interpretations of the concept of law. Finally, I want to propose a definition of law that not only satisfies the requirements of the concept of law, but is also general enough to be compatible with both camps of legal thinking.     

The Management of Incidental Findings in Neuro-Imaging Research: Framework and Recommendations

This paper addresses the question of how incidental findings (IFs) in clinical research should be managed by researchers, focusing in detail on IFs discovered in neuroimaging research. It begins by engaging the larger research ethics issue of whether researchers have any obligations of clinical care to participants, and assesses the content and merits of one particular framework for answering this question, Richardson and Belsky's ancillary care model. From here the paper develops an organizational structure for integrating the ancillary care model with existing research ethics standards, with the aim of better understanding their respective domains. It makes a distinction between incidental findings that are anticipated by informed consent documents, and those that are unanticipated, arguing that this distinction is critical for evaluating researcher obligations. Finally, it takes on the issue of incidental findings in neuroimaging research, translating the standards discussed into recommendations for both unanticipated and anticipated findings.     

Big genetic data and its big data protection challenges

The use of various forms of big data have revolutionised scientific research. This includes research in the field of genetics in areas ranging from medical research to anthropology. Developments in this area have inter alia been characterised by the ability to sequence genome wide sequences (GWS) cheaply, the ability to share and combine with other forms of complimentary data and ever more powerful processing techniques that have become possible given tremendous increases in computing power. Given that many if not most of these techniques will make use of personal data it is necessary to take into account data protection law. This article looks at challenges for researchers that will be presented by the EU's General Data Protection Regulation, which will be in effect from May 2018. The very nature of research with big data in general and genetic data in particular means that in many instances compliance will be onerous, whilst in others it may even be difficult to envisage how compliance may be possible. Compliance concerns include issues relating to ‘purpose limitation’, ‘data minimisation’ and ‘storage limitation’. Other requirements, including the need to facilitate data subject rights and potentially conduct a Data Protection Impact Assessment (DPIA) may provide further complications for researchers. Further critical issues to consider include the choice of legal base: whether to opt for what is often seen as the ‘default option’ (i.e. consent) or to process under the so called ‘scientific research exception’. Each presents its own challenges (including the likely need to gain ethical approval) and opportunities that will have to be considered according to the particular context in question.