The Food and Drug Administration in the US recently granted premarket clearance for a DNA sequencing platform with increased diagnostic power. Francis Collins et al. stated in an editorial in the New England Journal of Medicine that this approval may open the door “for the development and use of innumerable new genome-based tests” (Collins et al. 2013). Collins et al. called the approval “a landmark move that will finally open the way to realize the promise of personalized medicine” (Collins et al. 2013).

We are moving into a world where whole-genome scanning of individual DNA samples will start to become routine in medical research and clinical practice; proposals for routine screening of genomic profiles have already appeared in the public policy arena. The borders between medical research and clinical practice are to a certain extent blurring, so that research sequencing platforms are starting to gain clinical validity and clinical practice is beginning to rely more immediately and more closely on research results.

Biobank research and genomic information are reshaping our notions of health and medicine and offering the promise of more tailored medical treatment. The cost effectiveness of these treatments and of pharmacogenomics in general are part of this conversation, but it has been claimed that the way forward relies on bio-specimen research.

In Europe, the investments in research infrastructure and the linkages between existing biobanks and biomedical projects are extensively supported by public funding. The EU Seventh Framework funding programme invested heavily in the creation of network infrastructures and working consortia in order to facilitate the genomics movement on a large scale, and the research and innovation programme Horizon 2020 seems to be following the same philosophy.

The rapid pace of technology development in genome sequencing has an impact on how we think about biobank-based research regulation and health regulation. Thus, for example, the advances in bioinformatics and the augmented power of computing technologies together with the availability of widespread access to different network facilities have completely reshaped our notion of informational risk, leading to the conclusion that the very idea of anonymity in research may be a fairy tale.

How should these developments impact the current regulatory approaches, which rely heavily on anonymity and confidentiality in research? In the European parliament, the fear that the increased computer processing power associated with Web 2.0 internet technologies could impact individual privacy interests led to the proposal for a General Data Protection Regulation (GDPR) in January 2013, which initially suggested very strict rules for research. This proposal was severely criticised by patient associations, and there were widespread comments from scientists, scholars and professional associations who feared its possible impact on research.

While the first impression is that regulations follow scientific development, in fact, there are very complex dynamics in the co-production of bio-objects and regulatory approaches. Just as regulations impact research, research impacts regulation and governance approaches. Bottom-up approaches and self-regulation are constantly informing scientific practice. In a highly complex relationship, social values, existing rules, health expectations and science each play a role in reshaping the regulatory context.

The existing wealth of regulations on local, regional, national and international levels creates a complex picture that must be deciphered in order to conduct research. Binding legal rules need to be acknowledged together with ethical requirements and non-binding professional guidelines that sometimes overlap and diverge.

This book outlines the current developing situation with respect to biobanking regulations. The very definition of what constitutes a biobank is not unequivocal. Barbara Parodi explains the differences in the lexicon. She has explored the main literature in the field to provide a glossary that will help to map the complexity of the existing reality. It appears that the terms biorepository, biological resource centre and biobank can refer to very different structured collections of biological samples and associated data. They can include human tissues, animal tissues, cells, bacterial cultures and even environmental samples. These terms are often confused and sometimes misplaced in the literature. The associated regulations pertain to the kind of materials collected and the possible uses of those materials. Therefore human tissues collected for clinical use will be associated with a different legal and ethical framework than animal cell lines collected for research purposes. Relevant aspects such as proprietary rights, patenting, etc. will therefore have a very different basis. Barbara Parodi looks at how the various biobanks and bioresources can be established within academic, medical or research institutions, pharmaceutical/biotechnology companies and stand-alone organisations.

The category in which the bioresource is filed has serious implications for the regulatory framework that should be applied (clinical regulation, research) and for access to funding, etc. A clear distinction among biobanks used for research, diagnostic or therapeutic purposes is not always easy to obtain (e.g. cord blood stem cells, typically collected for therapeutic purposes, can be used for research, and tumour tissue samples can become the basis for tumour vaccines). Laboratories involved in cell therapy and tissue engineering clinical trials (cell factories) also handle biobank samples for clinical use. The legislation, ethical and social issues, and handling of the biological specimens are remarkably different for these different types of biobanks. Some authors differentiate research biobanks into four types: clinical case/control biobanks, based on biological specimens from patients with specific diseases and from non-diseased controls (e.g. pathology archives); longitudinal population-based biobanks, which follow a segment of the population over a long period (e.g. the Estonian and UK biobanks); population-isolated biobanks, with a homogeneous genetic collection based on a specific environment and population (e.g. the Icelandic biobank); and twin registries, with samples from monozygotic and dizygotic twins (e.g. the Genome EU twin and the Swedish Twin registries). However, in some specific contexts, classification goes even further, with up to six types of biobanks. Accurate definition and categorisation of the types of biobank are an important step in developing appropriate regulations.

Mariachiara Tallacchini looks at the standard response to the blurring notions of property rights and individual autonomy with respect to biological materials in two different legal systems (the EU and the US). She discusses the development of the legal interpretation of issues as they are raised by scientific advances and are responded to socially. According to her analysis, within the complex world developed around the biobanking of human biological materials and information, the US and Europe have adopted strikingly different strategies. The US has focused on the notion of individual property rights and Europe has focused on individual autonomy—mostly interpreted as the right to privacy. The US has dealt with the question of bodily property by negating the uncertain “proprietary interest” of private citizens to their bodies. Proprietary rights have been translated into more consolidated intellectual property rights and, to justify the acquisition of control by research and market structures, terminology describing the “donation” of one’s own tissues has been introduced. In Europe, the general approach instead went in the direction of removing corporeity by restricting the discourse to within the limits of the dignity of individual autonomy—according to which the body is “priceless”. Tallacchini shows that these categories are opaque and unbelievable and that, in fact, the negation of the marketability of the body went hand-in-hand with the institutionalization of a European tissue market.

The consequences of both these perspectives are very important and, in both cases, undesirable: the proprietary language diverts us from more socially responsible considerations of the human tissues as public interest or public good and, from the other perspective, privacy has become more of a constructed “myth” than a perceived need and, Tallacchini suggests, a screen to protect the interests of the market rather than individual positions. Privacy can become an obstacle and an undesired and paternalistic form of protection, while simultaneously hiding important shared interests for individuals such as the quest for better healthcare. The most negative effects of the proprietary legal framework include the precariousness of many collections of materials, the monopolies on certain types of tissue, and the creation of force-based relationships between nonprofit research institutions and pharma industry. However, in the author’s words, “the most serious and evident consequence concerns the net gap between research and therapy—exactly where it emerges clearly that the two areas are intimately connected and that the law should promote integration.” In fact, we are witnessing the development of dual artificial divergent regulations for the use of human tissues in research and the clinical field that have serious consequences for the politics of research, leading to the creation of restrictive regimes that do not reflect citizens’ views. In fact, citizens tend to be less concerned with the privacy or individual property rights of materials, and more concerned with the shared goals of research. The need for a shared collective civic dimension that can be believed and trusted could lead to the possibility of requalifying the use of human tissue. In the last chapter, Claudio Corradetti further explores empirical methods of achieving socially justified grounds for research.

Naomi Hawkins discusses one of the most controversial concepts to be debated in the field of biobank regulation: intellectual property (IP) in biobanks. The concept of property overlaps with the notion of privacy in many respects and Mariachiara Tallacchini and Matteo Macilotti analyse the implications of IP from a legal-philosophical perspective and a constitutional perspective, respectively. However, Hawkins discusses the regulation of IP in the new research infrastructure that is represented by biobanks. The purpose of biobanks is to allow ground-breaking research in genomics, in the hope that this research will ultimately benefit patients. Is it possible and desirable to develop IP policies which aim to maximise patient benefit?

The IP debate in the context of biomedicine and genomics is highly emotional and contradictory. IP is considered by some to be an incentive for innovation and the development of new treatments for disease. Others think that IP rights are blocking innovation and preventing legitimate academic and scientific research, to the detriment of the patients. In Hawkins’ analysis, the justifications for granting IP rights are the recognition of an author’s natural rights over the products of their creativity and the consequentialist consideration that IP rights induce desirable activities. The patent system in genomic research is most commonly justified on the basis that it provides inventors with an incentive to invest or is considered an incentive to disclose information to the public which would otherwise remain secret. On the basis of this second justification, IP rights fulfil a socially useful purpose. A biobank is a research infrastructure to be used by others for research purposes that may lead to the development of useful innovations. Various key issues are discussed: Can a biobank be the subject of IP? Can research done on the biobank samples be the subject of IP? How can a biobank manage its IP policy to shape the translational outcomes which arise from research?

Matteo Macilotti et al. look closely at how the interplay between current European and national regulations has impacted on the field of genomics in Italy. Special attention is given to the role of the current privacy regulations and how they have led to a highly complex picture that researchers must take into account.

From a comparative perspective, the Italian regulatory approach differs from that found elsewhere in Europe, especially with regard to the UK and Spain (see the chapter by Casado da Rocha). The need to identify a clear relationship between different legal sources (soft law provisions and hard law provisions) becomes especially relevant where the impact of new technologies requires a coordinated approach to ethical and legal issues about informed consent, confidentiality, individual identity, discrimination, self-determination, the secondary use of samples and data, the return of results to the subject, and data sharing.

The limits put in place by regulatory frameworks in clinical research are quite strict but genomics poses new challenges for the protection of research subjects. The traditional conflict between freedom of research for scientists and the interests of the patient is challenged by the introduction of broader models of consent, by the possibility of considering biological materials to be the property of the researchers, and by the creation of national criminal DNA databases. Industry also plays a role in shaping these dynamics, with the result that biobanking is often regarded as a commercial enterprise. Thus, the need to rebalance the relationships among patients/donors, clinicians and researchers becomes compelling.

The multifaceted reality of biobanking in Italy, together with the existence of multiple international and supranational regulations, and the absence, in Italy, of a specific statutory law, highlight the need to specifically define the regulatory framework in this field of biolaw. Abroad, an approach centring on top-down regulation and a “softer” strategy based on traditional instruments and ethical principles is emerging, while in Italy the matter has not yet been directly tackled.