Legal Aspects of Biobanking as Key Issues for Personalized Medicine and Translational Exploitation

Timo Minssen; Jens Schovsbo

Disclosures

Personalized Medicine. 2014;11(5):497-508. 

In This Article

What Are Biobanks & Why Are They So Crucial for PM & Translational Research?

The term biobank has been defined in many ways and – as we will see further down below the definition – may depend much on the perspective of the multiple stakeholders.[6,7] We chose here to define 'biobank' as 'an organized collection of human biological material and associated information stored for one or more research purposes'.[2,8,9]

But why are biobanks considered to be so important for the development of PM? To answer this question it makes sense to briefly recapitulate the basic features of PM and the scientific developments that contribute to its rapid evolution.

The discoveries stemming from the Human Genome Project and major investments in basic science have resulted in an explosion of genomic research. This has in turn led to many opportunities for substantial advances in clinical medicine.[10] Scientists have discovered and annotated thousands of gene variations contributing to human illness, identified genetic variability in patients' responses to numerous treatments and have gained a better understanding of the molecular causes of some diseases.[10] In addition, scientists are developing and using various diagnostic tests based on genetics or other molecular mechanisms to better predict patients' responses to targeted therapy.[10]

The rapid evolution of technologies capable of acquiring and analyzing high-dimensionality data (genomes, epigenomes, proteomes and images) now holds the potential for dramatically extending such activities in order to ignite a widely heralded era of PM, in which not only disease treatment but also preventive therapies will be applied in a personalized fashion.[10–12] Following the rapid progress in genomics research, biomedical health research has further developed from the study of rare monogenic diseases to common, multifactorial diseases.[13] Innovative, high-throughput technologies are widely expected to enable a better dissection of these complex, causally heterogeneous diseases into more homogeneous subgroups, which is another important prerequisite for a broader advancement of PM.[13]

As these advances are now transcending from mere intellectual curiosities applicable to only a few clinical settings to more general practical applications in modern medical practice,[14] the challenge is to deliver the benefits of this work to patients as quickly as possible and in a safe and efficient way.

Developing new therapies and optimizing prescriptions by steering patients to the right drug at the right dose at the right time, in other words, at a given disease stage development, has become a major goal where the pharmaceutical industry, academia and the healthcare sector are increasingly cooperating in large clinical, epidemiological, population- and disease-based studies.[15] An effective and widespread cooperation is generally considered to be vital for fully exploiting the potential of PM and target-directed diagnosis, which also requires coordinated efforts across a wide range of disciplines.[15] In addition to collaboration and interdisciplinarity, identifying robust genotype–phenotype relationships is another key challenge for enhancing PM. This requires very large sample sets for discovery and validation.[14,16–20]

The combination of these challenges represents the very reason for the increasing significance of large-scale international and interoperable biobanks as research infrastructures for the development of PM.[14] Being a valuable source of biosamples, as well as genetic and clinical data, biobanks can make it possible for all kinds of researchers with different backgrounds and scientific expertise to analyze large and diverse collections of patient data in order to validate the clinical significance of genomic mutations. After discovering, for example, a certain gene that might correlate with the severity of a given condition, researchers can then test new drug candidates that target this mutation.[21] Thus, biobanks provide a crucial platform for international and interdisciplinary cooperation and act as "key drivers for next-generation biomarker (diagnostics) and drug discovery".[21]

The extent to which such resources represent the populations from which they are drawn is often uncertain[14] and much will depend on the availability of high-quality biospecimens that come with the necessary patient information.[21] The newest generation of biobanks is, therefore, often linking the biological data stored in biobanks to electronic medical record systems. In addition to providing access to biosamples they may also offer access to validated medical records, genomic data and very specific patient demographic information.[21] Such biobanks will play a particularly crucial role in the transition to PM since they have the potential to enable investigators in the field of genomics to search, record and analyze phenotypic information pertaining to large numbers of patients in a 'real world' context.[14,22,23]

It has, therefore, been pointed out that while the costs of whole-genome sequencing are constantly decreasing, clinically significant data will be a vital factor to develop the field from research to clinical applications, and that "if biobanking is ever to fulfill its promise of PM, data must be useful for clinical purposes and efficiently interlaced with healthcare systems".[13] Yet the same authors also warn that: "this kind of data sharing complicates the obligations and expectations of all users and owners, including scientists, research sponsors, companies, publishers and science policy makers. Uncharted complexities exist involving informed consent, patient confidentiality, management of incidental findings, and practical issues medical interfacing and commercialization. As biobanking initiatives and the research they facilitate expand in unprecedented ways, what practical, social, ethical and economic implications lie ahead?".[13] They therefore admonish that a more transparent legal framework and flexibility in regulations will be required to avoid that compliance efforts paralyze biobank administrators and operators.[13] Much care is also needed with regard to the grant of IPRs. These might in some circumstances present obstacles in the translational pathway, for example, due to excessively high royalty fees, patent thickets or refusals to license.

At the same time, it is important to recognize and respect the significance of regulations, that is, not only for ensuring data reliability but also for enhancing public trust[13] and product safety. Moreover, legal certainty and the availability of high-quality IPR with an appropriate scope of protection may also be necessary for the economic sustainability of biobanks and for providing incentives for the costly product development toward market approval.

In order to fully support the trend toward PM and to more effectively transform advances in research and patient care into potentially life-saving applications, these issues must be addressed very thoroughly.[21] Naturally, this will require serious collaborative efforts by regulatory authorities, such as the US FDA and the EMA, scientists, patient groups, IPR patent granting authorities, legal experts, the relevant industry and other stakeholders.

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