ELSI

Within the German Biobank Node (GBN), Prof. Dr. Roland Jahns is responsible for ELSI –Ethical, Legal and Social Issues. He is also Director of the Interdisciplinary Bank of Biomaterials and Data in Würzburg (ibdw) and a member of the working group “Biobanking” of the Permanent Working Party of the German Medical Ehtics Committees.

Prof. Jahns, the increasing centralization and internationalization of biobanks brings completely new ethical questions. Can you describe these?

Biobanks are engaged in a field that affects the interests of medical research on the one hand and the rights and interests of donors on the other, and these interests should be balanced. Ethical considerations are of major importance here. The long-term success of a centralized biobank depends—aside from organizational challenges—to a very considerable degree on the willingness of patients and participants in clinical trials to donate biospecimens and data for a wide range of different medical research purposes. This is achieved today through a so-called broad consent on the part of the donors. This, however, is entirely different from the study-specific consent (informed consent) mostly used in the past for biospecimens. It is necessary, however, to explain to the patient why a broad consent is desirable and necessary for medical research.

Aside from organizational questions, the internationalization of biobanks primarily raises legal questions of data privacy. In particular, data relating to individuals must be sufficiently protected. The exchange of samples and data between modern biobanks on an international level offers considerable scientific scope for major advances, for example in the treatment of rare diseases because it makes larger sample sizes possible.

Are there national or international recommendations that can help biobanks to deal with ethical, legal and social issues?

The Declaration of Helsinki is a binding international framework. In addition, the Declaration of the World Medical Association (WMA) also embraces the ethically correct handling of biomaterials and data in research projects. The recommendations of the OECD deliver specific information on how human biomaterials and data are to be treated. In addition, at the European level, the Common Service ELSI was launched in 2015 by BBMRI-ERIC as the first BBMRI Common Service (CS) in order to help and advise European biobanks in all kinds of ELSI matters. In addition to acting as a “help desk,” CS offers an ethics check for BBMRI research proposals and currently develops recommendations and tools facilitating European cross-border access to biobank resources and data.

At a national level, the German Ethics Council (DER) has issued recommendations for research biobanks hosting human biomaterials. Additionally, there is the TMF, which has published checklists and guidelines on consent documents and legal matters in the field of research. Moreover, the Permanent Working Party of the German Medical Ehtics Committees (AKEK) issued templates for standard wording and recommendations on the ethical aspects of biobanking. They offer guidance for the formulation of texts for collections of specimens for specific projects as well as those for research purposes that are not yet determined.

Many biobanks are storing samples and data long-term for use in future research projects, the purpose of which is not yet known. How will the rights of patients be protected with such a broad consent?

The discussion about broad consent is a highly topical one, and for a long time, it was disputed whether it was legal at all. A broad consent is generally accepted today, however, if the recommendations of the German Ethics Council are observed. The broader the consent, the more necessary it becomes to gain the confidence of the donor. The donor must be given clear information, especially with regard to the uncertainty concerning the actual future use. Donors place considerable trust in those who will have access to their sensitive health data. For this reason, the procedures of a biobank and its rules, as well as its scientific and public activities, must be transparent. Donors should be able to inform themselves about the biobank and the use of their samples at any time. Furthermore, donors must be able to assert their legal rights, guaranteed under data privacy laws, such as their right to withdraw their consent.

Studies worldwide have shown that many patients wish to be informed of the outcome of research if there are additional findings or incidental findings. How can biobanks deal with this expectation, and what is the legal framework that governs this situation?

“Incidental” or “unsolicited” findings are mostly not an issue for biobanks, but rather for the researchers who make use of collected biomaterial hosted and provided by biobanks. Thus, in general, it is up to the researcher to decide how to deal with such findings, and this is also true for genetic or “molecular” findings. In this context, I consider it to be ethically problematic if research findings are communicated back to the donor without any form of filter. For example, assume that a person was informed that he had a 20% risk of developing Alzheimer’s disease at the age of 80, what should he do with that information? Although it is understandable that people want to know the outcome of genetic analysis, the results can be unsettling for a donor. In a purely research context, the communication of incidental or additional findings is only envisaged in a life-threatening situation which may be circumvented or in which treatment is possible and always with the involvement of the respective treating physician. In addition, if an illness that can be treated is discovered, physicians may have a professional obligation to contact the donor. Moreover, the communication of genetic findings that are relevant to health falls under the Gene Diagnostics Act and generally requires the involvement of a human geneticist. Taken together, I regard a more general feedback on the research subjects and results supported by the biobank in question as being helpful and feasible, but I do not consider the individual communication of research results to be desirable.

What will the ethical challenges be that result from biobanks becoming service platforms for research, enabling data to be exchanged on both a national and international basis?

Within Europe, BBMRI ERIC recently launched a Common Service ELSI in order to define an ethical and legal framework regarding data privacy that will facilitate European cross-border access to biobank resources and data. This is urgently needed to enable the supply of services for consortia throughout Europe. Ideally, data records would be allowed to be freely exchanged in pseudonymized form — at least within Europe — and the votes by EU ethics committees would be mutually recognized. The recent EU General Data Protection Regulation can contribute to the standardization and harmonization of the legal framework.

How will the anonymity of patients be insured for the exchange of genomic data and in the case of very rare diseases?

The protection of shared genomic data is currently not primarily an issue of ethics or biobanks, but more related to privacy. In the future, however, biobanks might be more involved in data handling, especially if genomic research data are returned to their data repositories in order to enrich biospecimens with additional data.

For re-identification of individuals by genomic data, a sample from the same individual is required — including its genomic data. However, this is usually not the case, and since genomic raw data are not freely accessible and difficult to handle, the risk for re-identification appears to be quite low currently and only feasible by illegal means. In addition, for many studies, analysis is restricted to small specific gene segments which cover only very limited information suitable for potential re-identification.

As described above, the situation is more critical regarding the analysis of whole genomes; the AKEK recommends that the specific consent of the donor be obtained for the disclosure or exchange of a genome.

The interview was conducted by Wiebke Lesch.