Keywords

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Introduction: What Is a Biobank?

The Organisation for Economic Co-operation and Development (2009: 1) defined human biobanks and genetic research databases as “structured resources that can be used for the purpose of genetic research, which include: (a) human biological materials and/or information generated from the analysis of the same; and (b) extensive associated information.”

However, there is no consensus on a definition for biobanks. Some, for example, the Council of Europe (2006), only use the term biobank population collections and have a separate definition for other collections of biological materials biobanks. Thus, the former would be applied to large cohorts (some such as UK Biobank are as big as 500,000 people) recruited from the general public, while the latter tend to be smaller collections of samples and associated data obtained from patients with a specific disease cohort of patients.

Population cohorts are prospective, collecting detailed information on lifestyle, exposures, and demographic risk factors and then following up the cohort over time to observe what diseases they subsequently develop. They allow researchers to examine the associations between genetic and environmental risk factors for a range of diseases. They tend to be expensive because of the number of subjects to be recruited but also because of follow-up over many years. Even with their large size, there may only be sufficient disease outcomes to study the more common diseases.

For rarer diseases, disease-specific collections are more appropriate. These are retrospective and seek out individual who already have the disease and then look for markers associated with particular genes and other risk factors by comparing with a control group who do not have the disease.

There are various funding models for biobanks:

  • Piggybacked onto hospital clinical services, usually pathology departments

  • Funded by grants from research funding bodies as part of their open calls for applications, rather than specific advertisements for biobank proposals

  • Funded via specific calls for proposals to support biobanking initiatives to enable or accelerate biobanking research

  • Initiatives by governments or large funding bodies, to set up a resource for their research community

  • Private sector funding

The term biobank also need not be restricted to human biological material, so, for example, there are biobanks containing samples from other animal species, plants, microbes, etc. However, for the purpose of this chapter, the main focus will be on human biobanks.

Shickle, Griffin, and El-Arifi (2010) proposed a classification for different sorts of biobanks to facilitate a more focused consideration of the ethics and governance issues with each. However, for the purpose of this chapter, the principles of the United Nations Educational, Scientific and Cultural organization (UNESCO) Universal Declaration on Bioethics and Human Rights will be discussed in the context of all the categories of biobank.

It should be noted that that are two other relevant UNESCO documents:

  • International Declaration on Human Genetics Data (2003)

  • Universal Declaration on the Human Genome and Human Rights (1997)

However, it is outside the scope of this chapter to describe the similarities and differences between these various documents, and the issues relevant to biobank are adequately highlighted by considering the generic Universal Declaration on Bioethics and Human Rights.

Universal Declaration on Bioethics and Human Rights

Articles 1 and 2 are general provisions relating to the scope and aim of the Declarations. The principles themselves are specified within Articles 3–17. Articles 18–21 describe application of the principles. Promotion of the declaration is described in Articles 22–25. Final provisions are laid out in Articles 26–28.

Human Dignity, Equity, and Respect for Cultural Diversity

This section relates the principles as stated within the Universal Declaration on Bioethics and Human Rights (UDBHR) to biobanks. Some of the principles contain broad statements of values which while uncontroversial, without in-depth exploration of their meaning, have limited utility when applied to policy or legislation. Thus, for example, human dignity and human rights (Article 3) and respect for human vulnerability and personal integrity (Article 8), while important concepts to underpin a review of the ethical issues relating to biobanks, will not be discussed in detail in this chapter, as they have been addressed elsewhere within this Compendium and Atlas of Global Bioethics.

Article 10 (equality, justice, and equity) states that “[…] the fundamental equality of all human beings in dignity and rights is to be respected so that they are treated justly and equitably.” This is expanded upon in Article 11 (nondiscrimination and nonstigmatization) which requires that “[…] no individual or group should be discriminated against or stigmatized on any grounds, in violation of human dignity, human rights and fundamental freedoms.” Article 12 emphasizes respect for cultural diversity and pluralism although “[…] such considerations are not to be invoked to infringe upon human dignity, human rights and fundamental freedoms, nor upon the principles set out in this Declaration, nor to limit their scope.”

Article 17 deals with protection of the environment, biosphere, and biodiversity. While there are biobanks involving other animals and plants, the focus of this chapter has been on human biobanks. The Secretariat of the Convention on Biological Diversity (2002) has also produced guidelines on access to genetic resources and fair and equitable sharing of benefits although the scope explicitly excludes human genetic resources.

The Human Genome Organisation (1996) (HUGO) has recognized that the Human Genome Project, the Human Genome Diversity Project, and other genetic research have given rise to a number of concerns:

  • Fear genome research could lead to discrimination against and stigmatization of individuals and groups and be misused to promote racism

  • Loss of access to discoveries for research purposes, especially through patenting and commercialization

  • Reduction of human beings to their DNA sequences and attribution of social and other human problems to genetic causes

  • Lack of respect for the values, traditions, and integrity of populations, families, and individuals

  • Inadequate engagement of the scientific community with the public in the planning and conduct of genetic research

The Human Genome Diversity Project (HGDP) (Cavalli-Sforza, 2005) is a resource that is aimed at promoting worldwide research on human genetic diversity, with the ultimate goal of understanding how and when patterns of diversity were formed. In the collection of the lymphoblastoid cell lines from worldwide populations, the HGDP was acutely concerned with ethical, legal, and social issues. At its founding meeting, HGDP adopted ethical guidelines (Greely, 2001), the key points of which were as follows:

  • The HGDP and its participating researchers must always respect the humanity of the sampled individual and the cultural integrity of the sampled population.

  • Informed consent is both an ethical imperative and a legal requirement.

  • Researchers should actively seek ways in which participation in the HGDP can bring benefits to the sampled individual and their communities.

  • One way to avoid bringing harm to the sampled individuals or their communities is by protecting the confidentiality of those sampled and, in some cases, of their entire community.

  • Although very unlikely, it is nevertheless possible that the results of the HGDP might lead to the production of commercially beneficial pharmaceuticals. Should a patent be granted on any specific product, the project must work to ensure that the sampled population benefits from the financial return from sales.

  • Human history – and the human present – is full of racism, xenophobia, hypernationalism, and other tragedies, stemming from beliefs about human populations. In the past, some of those tragedies have been perpetrated by, or aided by, the misuse of scientific information. All those involved in the HGDP must strive, in every way possible, to avoid misuse of the project data.

  • Many people in the world have, at best, a limited understanding of human genetics. Some fear the consequences of human genetic research, in part because of the limits of their understanding. It is essential that a worldwide “public awareness” program is included within the project to educate people about its aims, methods, and results.

  • The ethical issues faced by the project will evolve over time and must therefore be kept under continual review.

  • The transfer of technology to developing regions of the world, which is an integral part of the proposed project, should contribute positively to the development of self-sufficiency in these regions. The help given should not be superficial and of only short-term usefulness.

  • There should be a feedback of information to populations that participate in the HGDP.

Cell lines were only included within the resources if donors have provided informed consent to permit use of sample in studies of human history or evolution. A protocol for confidentiality protection for donors of samples was also established. Other information may have been collected by the various researchers who contributed to the collection, but the only information about ethnic and geographical origin (in degrees of latitude and longitude) and sex was stored within the HGDP biobank.

Autonomy and Consent

Autonomy and individual responsibility (Article 5), in the context of biobanks, have received considerable attention in ethics literature in particular in relation to consent (Articles 6 and 7) and, to a lesser extent, privacy (Article 9).

The first paragraph of Article 6 (consent) applies to preventive, diagnostic, and therapeutic medical interventions and hence is not relevant to biobanks as there are no interventions directly associated with the biobanks, although data and samples stored within the biobanks may have been generated as a biproduct of such interventions. However, paragraph two requires that:

Scientific research should only be carried out with the prior, free, express and informed consent of the person concerned. The information should be adequate, provided in a comprehensible form and should include modalities for withdrawal of consent. Consent may be withdrawn by the person concerned at any time and for any reason without any disadvantage or prejudice.

Beauchamp and Childress (2001) identified the following elements of the process leading to informed consent:

  1. 1.

    Threshold elements (preconditions)

    1. (a)

      Competence (to understand and decide)

    2. (b)

      Voluntariness (in deciding)

  2. 2.

    Information elements

    1. (c)

      Disclosure (of material information)

    2. (d)

      Recommendation (of a plan)

    3. (e)

      Understanding (of 3 and 4)

  3. 3.

    Consent elements

    1. (f)

      Decision (in favor of a plan)

    2. (g)

      Authorization (of the chosen plan)

Usually, potential biobank participants will have the mental capacity to give consent. As with other forms of research, there is the potential for concern when research subjects are in a dependent relationship with the research, for example, when a patient is asked to provide consent by a health profession responsible for their clinical care. Thus, the request for consent should usually be made by someone independent of this dependent relationship or at least who has a more junior role.

Article 7 lays out special protections to be given to persons without the capacity to consent. In particular, there are requirements to act in the best interests of the person lacking mental capacity and to involve the person concerned to the greatest extent possible in the decision-making process of consent, as well as that of withdrawing consent. It is difficult to demonstrate that participating in most research (unless when there is therapeutic benefit from an intervention that is only available within a clinical trial) is in the best interest of the participant, even if they have full mental capacity. The key is recognized in paragraph (b) when the caveat is introduced of only exposing the person to minimal risk and minimal burden AND if the research is expected to benefit the health of other persons in the same category. These requirements are consistent with many examples of national legislation, for example, the Mental Capacity Act 2005 in the United Kingdom (Shickle, 2006a). Thus, a person lacking mental capacity should not be recruited into a population biobank or for a biobank for a disease where there would be other patients who have mental capacity to give consent. But in principle, there would be no impediment for establishing a biobank to collect samples for conducting research on conditions that cause mental incapacity.

As Hoeyer (2008) has pointed out, human tissue has been stored and used for research on a regular basis for more than 80 years, and then suddenly during the 1990s, collection of human tissue, under the label of biobanks, started to attract considerable debate in the ethics literature.

There are three categories of consent that could be required within a biobank (Shickle, 2006b):

  • Consent to collect data/samples directly from the data subject

  • Consent to use data/samples collected for other purposes

  • Consent for research to be performed on the data/DNA

Consent to collect data/samples from the data subject within a biobank should not, a priori, be ethically problematic as long as Beauchamp and Childress’ elements are addressed. Explaining to potential biobank participants the aim of the biobank, what they are being asked to do, what sorts of questions they will be asked, and what samples will be collected is not dissimilar to the information that should be disclosed for any other research study (Shickle, 2006b). For most biobanks, in particular the retrospective case-control biological sample collection, it should also be relatively easy to explain what analysis will be performed on the data/samples and by whom, for example, in order to look for linking between sequences of DNA and particular risk factors among people with or without the disease. There are also no a priori ethical problems with prospective studies and longitudinal collection of data: many nonbiobank research studies do this. The consent problem with DNA biobanks arises when the information that ought to be disclosed during the consent process becomes increasingly uncertain. For example, unlike most research studies, where the research is performed by those who collect the data/samples, within biobanks this is not usually the case. At best, it is only possible to say that researchers will be vetted for legitimacy, but that they could be from not-for-profit or commercial sectors, may be from the country where the data/samples are collected, or could be international. Similarly, there could be reassurances that (other than exceptional circumstances, such as under a court order) the biobank will only be used for research approved by an independent research ethics committee. Given that most biobank participants are relatively healthy at the time of recruitment, it is also not possible to specify which diseases will be explored. It is this uncertainty that has caused particular debate.

Various solutions have been proposed, which have moved away from an absolute requirement to obtain informed consent (Shickle, 2006b). For example:

  • Blanket consent, in which biobank participants assent to their data/samples being used for all forms of future medical research

  • Preauthorization models in which participants are able to specify particular sorts of research that may or may not be performed using their data/samples

  • Waived consent, in which an independent third party decides whether future uses of data/samples are appropriate

Johnsson, Hansson, Eriksson, and Helgesson (2008) conducted a survey of biobanks in Sweden to find out the incidence of cases of patients withholding their consent for samples to be stored within a biobank. Patients refused consent to either storage or use of their samples in 1 in 693 cases, and 1 in 1,580 confirmed this decision by completing a dissent form. One in 19,059 withdrew their consent. They therefore thought the consent process represented a minimal threat to the quality of research. However, they concluded that:

A complex and costly administration has been set up to protect the small minority of patients who do not want their samples to be stored in biobanks or used in research. (Johnsson et al., 2008: 3)

They recognized that the findings might not be generalizable to other contexts or cultures and that the right to say “no” might be justified, no matter how small the minority utilizing it. However, they thought the means to protect this right seemed flawed and that the lack of dissent in an explicit opt-in consent system justified a move to presumed consent as part of an “opt-out” system. In response to this paper, Laurie (2008) thought that Johnsson et al. had overlooked:

[…] the costs of establishing a defensible opt-out system that gives patients adequate information about who might have access to their samples or information, and for what purposes. (Laurie, 2008: a337)

Laurie argued that a stronger evidence base is required in order to better understand:

[…] what patients and public understand about samples, records and research; how well informed they are; and whether low opt-out rates truly reflect well placed trust or simply poorly informed apathy. (Laurie, 2008: a337)

Ludman et al. (2010) contacted 1,340 people for reconsent for transfer of previously collected data to the US federal database of Genotypes and Phenotypes (dbGaP). Interviews were conducted with 365 of the 86 % of the sample who reconsented. Respondents said that it was very (69 %) or somewhat (21 %) important that they were asked for permission. Many thought that alternatives to consent, such as notification-only or opt-out to be unacceptable (67 % and 40 %, respectively).

Article 9 requires that “[…] the privacy of the persons concerned and the confidentiality of their personal information should be respected. To the greatest extent possible, such information should not be used or disclosed for purposes other than those for which it was collected or consented to, consistent with international law, in particular international human rights law.”

Many studies exploring public attitudes to participating in biobanks have highlighted that potential biobank participants have concerns about privacy and confidentiality (Shickle et al., 2003). For example, in a representative survey of 4,659 US adults conducted by Kaufman, Murphy-Bollinger, Scott, and Hudson (2009), 91 % would be concerned about protecting their privacy if they were part of a biobank, although this should be set against a high concern (79 %) about privacy of their medical information more generally. Respondents were more content to allow academic/medical researchers access to their data than government-funded researchers. They were most concerned about pharmaceutical companies accessing their data, although the study authors were unclear whether this was due to privacy concerns or disapproval of the industry’s profit motive. Thirty-seven percent would worry that the study data could be used against them and most wanted guarantees that their data could not be accessed by insurers, employers, or law enforcement officials. However, despite these concerns, 60 % would participate in a biobank.

The question therefore arises whether there is a particular problem relating to biobanks and an Article 9 right to privacy? Are people more concerned about the data and samples that they may donate to a biobank compared with the data or samples that they may be asked for as part of a standard research project? While it has been suggested that there are features of genetic/genomic test information that mean that it should have additional protections (McGuire et al., 2008), most of the data contained in biobank is information that could be collected within other forms of medical research and indeed research in other academic specialties. Similarly, blood, urine, etc., could also be collected in nonbiobank research. The public do seem to perceive genetic information as being more sensitive because genetic information is perceived as being an integral part of who they are (Melas et al., 2010). Do they perceive data controllers and data protection procedures to be intrinsically more untrustworthy than within other studies? There is no reason to suspect this, but it is a consistent research finding that the public consider certain data users to be more untrustworthy or are concerned that their DNA could be used to identify them (Shickle et al., 2003; Melas et al., 2010). This is despite the fact that most genetic data generated from a biobank has limited or no clinical or predictive value and most biobank participants are law abiding. Of course the privacy concerns about biobanks may just be an artifact of academics going out and asking people whether they are concerned about privacy and biobanks. Given that people do agree to participate in biobanks, it may be that the concern about breach of privacy is outweighed by their perception of the worth of the research and hence the importance of them participating.

As Hoeyer noted from his review of the literature on the ethics of research biobanking, there is a:

[…] clear discrepancy between the concerns of donors, legislators and ethicists. The academic debate and legislatory action tend to focus on informed consent, and most of the concerns that donors have remain unattended to. (Hoeyer, 2008: 429)

While there were no clear trends, Hoyer made the following tentative observations:

  • The type of tissue asked for and the position of the donors in relation to the research project seem to be important: the more people feel they need medical research results, the more likely they seem to donate.

  • Only a minority would never participate in biobank research, but the social groups most likely to abstain differ between national contexts.

  • A majority, or at least a substantial minority, think the donor should have a say concerning retention of tissue. This is generally interpreted as support of a consent requirement, but whether people prefer broad or specific consent and when and under which conditions differs remarkably between the surveys.

  • Commercial access to public biobanks is accepted by a majority, although it is viewed more as a necessary evil than as the preferred research infrastructure.

  • Mostly, donors are interested in getting access to research results, particularly of relevance to their own health, but the conditions differ widely.

Solidarity and Cooperation

The HGDP ethics guidelines recognized that it was unlikely that the HGDP would lead to commercially valuable products. Article 4 (benefit and harm) required that “[…] in applying and advancing scientific knowledge, medical practice and associated technologies, direct and indirect benefits to patients, research participants and other affected individuals should be maximised and any possible harm to such individuals should be minimised.” Direct benefits for an individual from participating in a biobank are negligible, and harms are more likely to arise in relation to dignity, integrity autonomy, etc., rather than harm to physical or mental well-being. Indeed, population benefits may be unclear when a biobank is first established, but rather they are created as a resource for researchers to use in order to conduct research that may generate benefits downstream. Individual patients and members of the public are asked to join this enterprise and make altruistic donations of their personal data and tissue.

Article 13 (solidarity and cooperation) suggests that “[…] solidarity among human beings and international cooperation toward that end are to be encouraged.” “Solidarity” and “altruism” are concepts that underpin much of the publicity materials for biobanks. For example, the strap line for UK Biobank is “Improving the health of future generations.”

Notes of the UK Biobank consultation meeting with industry described UK Biobank as:

[…] a long term endeavour and the altruistic contribution of participants will benefit future generations … The contribution of participants to the project should be seen as a gift to biomedical science in the public interest. (UK Biobank, 2003: 5)

The language within the UK Biobank Ethics and Governance Framework went further:

Participation will be presented as an opportunity to contribute to a resource that may, in the long term, help enhance other people’s health. (UK Biobank, 2007: 5)

The use of the word “opportunity” suggests that participation is something that a citizen would want to do, if not ought to do, as part of an obligation to improve the health of future generations.

The UK Human Genetics Commission (2002) went further and used the language of “duty”:

Genetic knowledge may bring people into a special relationship with one another. We lead our lives as members of large and small communities and we have certain duties to other members of these communities. Such duties can include not causing harm to others and doing things to help them. Sharing our genetic information can give rise to opportunities to help other people and for other people to help us and we have a common interest in the benefits that medically-based genetic research may bring. We have, therefore, set out a concept of genetic solidarity and altruism. This supports the idea that, for example, although nobody should feel pushed into taking part in genetic research, when they make this decision people should be aware that by taking part they might help those suffering from disease. (Emphasis in original) (Human Genetics Commission, 2002: 6–7)

Petersen (2005) explored use of the language of citizenship within published documents pertaining directly or indirectly to UK Biobank. Petersen felt that words and phrases such as “altruistic,” “gift,” “sharing,” “opportunities to help others,” “common interest,” etc., have a strong resonance in liberal democracies, especially with a widening of the concept of social citizenship and an emphasis on the duties of citizenship. However, he felt that the term “genetic solidarity” represented a significant modification of the concept of social solidarity, which in its conventional usage implies cohesion, shared aims, and interested and single-minded unity of purpose. He saw the conjunction of “genetic” and “solidarity” as being consistent with:

[…] the increasingly prominent worldview of ‘genetic welfare’, whereby genetic considerations tend to prevail over social ones and there is a change in our perceptions of rights, responsibilities and duties. It is the language of an emergent biological citizenship, involving the linking of biology and identify. (Petersen, 2005: 284)

Obligations for protecting future generations are specifically addressed with Article 16 which requires that the impact of life sciences on future generations, including on their genetic constitution, should be given due regard.

The main genetic issue in relation to protection of future generations would be impact on the gene pool. The gene pool can be affected in various ways:

  • Prolonging the life of individuals with genetic conditions who would otherwise not reach reproductive maturity or who would be unable to reproduce

  • Manipulation of the genome within inheritable material, for example, via gene therapy

  • Selective termination of pregnancy for particular genetic disorders or traits

  • Introducing evolutionary pressure on partnership and reproductive choices of individuals

Biobanks may lead to downstream interventions that could theoretically lead to the first of these. While any genetic research can add further to the pressures driving the latter three, the association between biobanks with these is likely to be tenuous.

Article 14 (social responsibility and health) suggests that “[…] the promotion of health and social development for their people is a central purpose of governments that all sectors of society share.” This is unlikely to be contested. However, Article 14 goes on to suggest that “[…] the enjoyment of the highest attainable standard of health is one of the fundamental rights of every human being without distinction of race, religion, political belief, economic or social condition” and that progress in science and technology should be directed to advance this aim. Including “highest attainable standard of health” as a fundamental human right is however likely to be contested and indeed unattainable. A critique of this is outside the remit of this chapter on biobanks, but suffice to say that all healthcare systems involve some degree of rationing and hence suboptimal health for its service users. However, while the general direction of this article is important, it is not relevant to most biobanks. The aim of biobanks is to facilitate research that would lead to the highest attainable standard of health, but there are lots of intermediate steps between biobanks and final product and benefits and probability of success are often exaggerated.

Sharing of Benefits

Article 15 (sharing of benefits) proposes that “[…] benefits resulting from any scientific research and its applications should be shared with society as a whole and within the international community, in particular with developing countries.”

The Human Genome Organisation Statement on the Principled Conduct of Genetic Research (1996) was based on the following principles:

  • Recognition that the human genome is part of the common heritage of humanity

  • Adherence to international norms of human rights

  • Respect for the values, traditions, culture, and integrity of participants

  • Acceptance and upholding of human dignity and freedom

It went on to recommend that:

Undue inducement through compensation for individual participants, families and populations should be prohibited. This prohibition, however, does not include agreements with individuals, families, groups, communities or populations that foresee technology transfer, local training, joint ventures, provision of health care or on information infrastructures, reimbursement of costs, or the possible use of a percentage of any royalties for humanitarian purposes. (Human Genetic Organisation, 1996: 3)

A subsequent statement by the Human Genome Organisation Ethics Committee (2000) dealt specifically with this issue of benefit sharing and how to distribute profits that may accrue to commercial enterprises, governments, or academic institutions on the basis of the participation of particular communities. The Committee recognized that there are different definitions of community and that communities may have different beliefs about what constitutes a benefit. However, prior discussion was needed with groups or communities on the issue of benefit sharing. They also recognized that as a species, we all share in essence the same genome and at this collective level, the genome is the common heritage of humanity. However, at specific places within the genome, individuals (with the exception of identical twins) exhibit significant variation. At a minimum, all research participants should receive information about general research outcomes and an indication of appreciation. The Committee recommended that all humanity share in, and have access to, the benefits of genetic research and that benefits should not be limited to those individuals who participated in the research. Even in the absence of profits, the Committee recommended that immediate benefits as determined by community needs could be provided. But profit-making entities should dedicate a percentage of their annual net profit (1–3 % was suggested) to healthcare infrastructure and/or to humanitarian efforts.

Many of the smaller biobanks do not have the resources to consider issues relating to intellectual property rights (IPR), but even within the larger population biobanks, IPR issues are often poorly addressed, or the policy is deferred until after the collection phase is complete. For example, UK Biobank is probably the largest biobank with the highest international profile and most often used as a gold standard for other biobanks to follow (it has recruited 500,000 people aged between 40 and 69 years from across the United Kingdom). UK Biobank completed sample collection in 2010 but did not finalize its access procedures until the end of 2011 (UK Biobank, 2011).

Pathmasiri, Deschênes, Joly, Hemmings, and Knoppers (2011) identified three phases within the life cycle of a biobank in which IPR may be relevant: creation, collection, and access phases. They proposed that scope for IPR within the first two of these phases is limited. Within the creation phase, the biobank may wish to copyright logos, software for interviews, or new health questionnaires. Patents may be sought for innovative equipment developed for storage of samples. However, only in exceptional cases would these intellectual property (IP) protections be financially lucrative. Within the collection phase, the main focus is privacy and protection of access to data and samples. The emphasis is on contractual and procedural mechanisms rather than IPR. The main scope for IPR is in relation to research that accesses the data and samples contained within a biobank, leading to patents for new diagnostic tests, new applications of existing medications, new medications, or copyrights in publications.

Pathmasiri et al. (2011) raised the question as to whether publically funded biobanks should claim any ownership of IPRs that are developed as a result of access to biobank data and samples. They did recommend that biobanks acknowledge the possibility of “downstream IPRs” and that these ought to be clearly and preemptively specified within IP policies and access agreements before granting access to the biobank to mitigate future misunderstandings and litigation. Pathmasiri et al. conceded that a biobank, and of course the public that paid for it, might wish to benefit from downstream IPR as there was considerable time, energy, and money involved in collecting, processing, and storing of samples. However, they pointed out that biobanks only provide the raw material for the research and do not take part in the inventive steps to develop patents, and hence, they argued that biobanks should not have rights in patents, etc. The main argument of their paper was that publically funded biobanks should be satisfied with benefits “in kind” rather than financial. Underpinning this argument is the recognition that aim of the majority of publicly funded biobanks is to promote the development of new knowledge by giving the research community access to data samples. It is further argued that the most efficient way to acquire these benefits is to, firstly, maximize the use of the biobank in research and, secondly, maximize the dissemination of knowledge developed by the research projects that used the biobank. Pathmasiri et al. claimed that the need to negotiate additional potential IPRs before obtaining access to the biobank resource translates into added access procedures, approvals, and delays and hence additional hurdles that put of use of the biobank and be counterproductive to the aims of the biobank owners.

In addition, Pathmasiri et al. (2011) suggested that the financial return from downstream IPRs for the biobank may be an unpredictable source of income, and biobanks would be better advised to ensure that the funding needed for maintaining the biobank is secured from access fees. They also pointed out that the additional administrative burden of negotiating and monitoring IPR would need to be offset against any income. While it is true that for smaller biobanks the likelihood of generating significant and reliable IPR income would be low, larger population biobanks are likely to attract significant interest from international research groups, and hence, the extra work in setting up robust access and IP arrangements would be warranted.

Most of the costs associated with a biobank are upfront, relating to the collection phase and to a lesser extent the creation phase. The case is usually made to funders on the basis for the need for establishing the biobank as an infrastructure for research. The funding is made on this basis without an expectation that that the funding will be returned, although the initial grant often does not give sufficient attention as to how the resource will be funded on a long-term basis during the access phase. For most biobanks, there is an expectation that access fees would cover at least the cost of retrieving and processing the data and samples for each request and that this income would also offset the cost of maintaining the biobank itself. The main IPR concern for most biobanks is to set up a mechanism to prevent exclusive licensing practices which lead to higher prices for diagnostic tests and pharmaceuticals developed from utilizing the biobank and hence adversely affect the public who freely donated the samples that facilitated the patent-creating research in the first place. The most infamous example of this (although not directly related to a biobank) was when Myriad Genetics marketed predictive genetic tests for breast cancer, as prices that were considered by some to be excessive, on the back of patents it held for sequences within the BRCA 1 and 2 genes (Marsh, 2010; Park, 2010).

The patent system and other intellectual property rights were enacted in recognition of the need to reward the investment of individuals leading to innovation, and that innovation, generally, is in the public interest. Thus, researchers, especially within the for-profit sector, will need to be afforded some IPR protection as incentive for doing the research, but at the same time, providing some guarantees for society that the patented innovations are not priced out of the reach of parts of society who have capacity to benefit. The US National Institutes of Health [NIH] (2005) and the Organisation for Economic Co-Operation and Development (2006) have both produced guidelines for best practice for the licensing of genetic inventions. The NIH guidelines discouraged exclusive licensing:

Whenever possible, non-exclusive licensing should be pursued as a best practice. A non-exclusive licensing approach favors and facilitates making broad enabling technologies and research uses of inventions widely available and accessible to the scientific community. When a genomic invention represents a component part or background to a commercial development, non-exclusive freedom-to operate licensing may provide an appropriate and sufficient complement to existing exclusive intellectual property rights. (NIH, 2005: 18415)

The NIH guidelines go on to state that:

PHS [Public Health Service] encourages licensing policies and strategies that maximize access, as well as commercial and research utilization of the technology to benefit the public health. For this reason, PHS believes that it is important for funding recipients and the intramural technology transfer community to reserve in their license agreements the right to use the licensed technologies for their own research and educational uses, and to allow other institutions to do the same, consistent with the Research Tools Guidelines. (NIH, 2005: 18415)

In addition to more specific principles and examples of best practice, the OECD guidelines contained four general principles and recommended that licensing practices should:

  • Foster innovation in the development of new genetic inventions related to human healthcare and should ensure that therapeutics, diagnostics, and other products and services employing genetic inventions are made readily available on a reasonable basis

  • Encourage the rapid dissemination of information concerning genetic inventions

  • Provide an opportunity for licensors and licensees to obtain returns from their investment with respect to genetic inventions

  • Have reasonable certainty over their rights and the limitations to those rights in relation to genetic inventions

Given its size, both in terms of size of cohort and budget, UK Biobank is proposing to take a more robust approach to IPR compared with other publicly funded biobanks, and intends to explicitly retain ownership of the resource:

UK Biobank’s approach to Intellectual Property Rights (IPR) is structured on the basis that it seeks to encourage use of the UK Biobank Resource for health-related purposes by bona fide researchers. To this end, UK Biobank will retain ownership of its rights in the Resource (so that it is available to all other approved researchers), while at the same time facilitating the availability of clinical advances (e.g. diagnostics and treatments) arising from its use. UK Biobank is the owner of the property in the samples and the database (which will be added to, and updated, throughout the life of the Resource) and retains all the intrinsic IPRs in the data in the Resource (notably database rights and copyright). (UK Biobank, 2011: 10)

Pathmasiri et al. (2011) also proposed that one way that biobanks could achieve a goal for wide diffusion of knowledge and applications is to request that biobank users return research findings to the biobank within a designated time frame. These results can then be made available to the wider research community, who could make use of them within other research.

UK Biobank has also given a clear indication that it:

[…] would not expect naturally-occurring genetic sequences, biomarkers, proteins or biochemical processes to be made the exclusive preserve of one party. (UK Biobank, 2011: 10)

UK Biobank proposes to have no claim over inventions and associated IPRs that are developed by researchers as a result of using the resource. However, it is intended to have a “reach-through” provision to restrict the exercise of these rights if IPR is used to restrict health-related research and/or access to healthcare unreasonably. In the event that conduct is considered “unreasonably restrictive,” UK Biobank:

[…] reserves the right to require that a licence of such rights is granted back to UK Biobank on an irrevocable, perpetual, global, royalty-free, fully sub-licensable basis so that other researchers who are granted access to use the Resource can exercise such rights to the extent necessary to conduct their research project. (UK Biobank, 2011: 10)

It remains to be seen how UK Biobank operates this proposed approach to IPR once access to the resource has begun. It also remains to be seen whether smaller biobanks would be able to institute similar restrictions. Given the pressure to demonstrate that the resource is being used and hence show to funders that the money spent on establishing the biobank is worthwhile, it would be courageous for a biobank administrator to place barriers to exploitation of the resource, when, for the more common conditions at least, there is a global oversupply of samples.

The Icelandic Health Sector Database was operated under a license by deCODE genetics. In turn, deCODE genetics entered into an exclusive sublicense agreement with Hoffman-La Roche that will give the latter exclusive access to the database to explore the genetic origins of 12 diseases. This sublicense agreement promises that Iceland will be provided, free of charge for the patent term, any products that are developed using data from the Icelandic database. While the decode model received considerable criticism (Greely, 2000) and the company eventually went bankrupt in 2009, the model of subsidized healthcare costs might be attractive to a country with a cash-limited health economy. Other countries that have established national biobanks have also hoped that it would attract pharmaceutical and biotechnology companies to set up facilities within their country, so earning additional tax and economic activity.

Paragraph 2 of Article 15 states that “[…] benefits should not constitute improper inducements to participate in research.” While there are rarely any direct financial inducements for donating tissue, within publicly funded biobanks at least, there may be some degree of coercion for patients to participate in disease-specific biobanks, if they believe that this is the best hope of finding a cure.

Support groups for patients with genetic disorders are generally keen supporters of the research community and oppose measures that they perceive might hinder the research process. For example, commenting on the Myriad Genetics case, Sharon Terry, the cofounder of PXE International, wrote:

A sweeping, broad-brush approach would cause wide-ranging disruption to research and development for innovative diagnostics and treatments to the detriment of individuals and families in need of medical breakthroughs. (Terry, 2010: 24)

PXE International is a support group established by families with pseudoxanthoma elasticum (PXE). When Sharon Terry’s children were first diagnosed with PXE, Sharon and her husband started exploring research options and in addition to establishing the support group developed their own biobank and retained IPR. When they were approached by two separate research groups for blood samples, they were:

[…] shocked to find out that they wouldn’t share [samples] and expected us to allow blood to be drawn from small children twice in 1 week. There was no central repository for the precious blood of people with this rare condition … We began to scheme about what we would do if we were managing research on this disease. It seemed to us that not only did PXE need a central repository for blood and tissue, it also needed a large cohort of affected people to give researchers a comprehensive understanding of the condition’s manifestations and progression … Soon after we started the PXR International Blood and Tissue Bank, the researcher in whose lab we banked our samples actively tried to thwart access to the bank by other researchers. We were appalled, maybe naïvely, that researchers would put their needs for publication, funding, promotions, and tenure ahead of the needs of people living with disease … Fortunately, this problem was counterbalanced by interactions with other researchers here and abroad, with whom real collaboration occurred. One of these relationships led to a joint application for the patent on the gene associated with PXE – the first time lay people in an advocacy group have applied for the patent. We consider ourselves stewards of the gene and know that the real issues will be played out in its licensing. (Terry, 2003: 168–170)

Article 15, specifically notes the importance of benefit sharing with developing countries. Sheremeta and Knoppers (2007) recognized that in view of the trend toward population genetic research and the widening gap between the developed and the developing world, mechanisms are required to ensure that the benefits of this research can be shared equitably. They suggested that if the biotechnological advances derived from genomics are applied correctly, then there is potential to affect a revolutionary transformation in medicine and healthcare over the next few decades. But they also warned that if used “inappropriately and unwisely” the power of genome-related biotechnologies would inevitably exacerbate existing inequities.

Emerson, Singer, and Upshur (2011) noted examples of “scientific-imperialism” and “biocolonialism” in which vulnerable populations had been exploited in research. They believed that this has led to many communities and governments in low-to-middle income countries being understandably reluctant to trust foreign researchers and permit access to human tissues. As a way of rebuilding this relationship, Emerson et al. (2011) proposed a “tissue trust” as a way of promoting host capacity by either requiring that research is conducted within country or charges an export fee that could be used to develop this capacity. The model also includes requirements in terms of governance structures and community engagement.

Moral standards for sharing of research benefits with the developing world have been proposed (El Setouhy et al., 2004). However, the main focus of these frameworks is in terms of fairer benefits to participants and the community in which they live, during the research. As has been mentioned previously, the benefits from participating in a biobank are negligible. Thus, it is the wider global healthcare agenda that is relevant here and not one specific to biobanks, with downstream diagnostic tests or therapies being equitably shared and accessible to deprived populations. That said, the initiatives such as the Human Genome Diversity Project will be important to ensure that the outputs of genomic research take into account different polymorphisms around the world. After all, no developing country would be able to afford the £60 million spent on establishing UK Biobank.

Conclusion: “Biobank Exceptionalism”?

The main focus of the discussion within this chapter has been on Articles 6 (consent) and 15 (sharing of benefits), reflecting the main foci of debate about biobanks within the academic literature. It should be noted that while the scientific (and indeed the ethics) community has paid particular attention to producing solutions to the consent problem within biobanks and the public are presented with arguments why participating in a biobank participant is a way of solidarity, scientists have been less forthcoming with solutions to address the sharing of benefits.

It is true that biobanks provide an infrastructure and a resource for research, rather than being a research enterprise in their own right. It is also true that seeking informed consent for data/sample donation is more complicated because of the uncertainty about how the resource will be used and by whom. However, this should not mean that biobanks should be automatically exempt from the usual a priori moral obligation to seek informed consent. Of course, there are examples of research where consent is not sought because it is not practicable or appropriate to do so, and if necessary, biobanks should use similar justifications.

It is true that intellectual property rights are more difficult when there are many organizations involved. It is also true, that the funders of biobanks want to encourage research that will benefit the public. However, these difficulties should not mean only the researchers (whether in for-profit or not-for-profit organizations) should only be the ones to benefit from the investment made by those who fund the biobank and those who donate their data/DNA.

Genetic exceptionalism is the claim that genetic information is special and hence should be treated differently from other forms of personal or medical information, based on its ability to predict the future, identify individuals, implications for other family members, and/or scope to discriminate/stigmatize. However, to various degrees, these characteristics are also true of nongenetic information. In any case, the information generated from research on biobank samples could rarely, if ever, be used in these ways. While the particular issues relating to biobanks require specific attention, this should not mean that the principles within the Universal Declaration on Bioethics and Human Rights do not apply.