Biobanking: Where Science and Society Meet

This special issue of Genetic Testing and Molecular Biomarkers (GTMB) is devoted to biobanks and biobanking. It was conceived, developed, requisitioned, and edited by a highly credentialed international team of bioethicists who have served with distinction as guest editors. Although the topic was vetted with this editorial office and our publisher, Mary Ann Liebert, this was truly an “outside job” with only minimal editorial input from this office during the final stages of article polishing. With that said, the quality of the individual articles is very high, but it is in the aggregate that this issue of GTMB really shines as it brings together an international community who collectively illuminate multiple facets of what is an emergent and evolving field at the intersection of science and society. What is clear is that each of these players (scientists and contributors of specimens) must inform the other in an unambiguous manner of their intentions and aspirations with regard to specimen ownership, analyses, and reporting of results. There should be no uncertainty about when and how information may or may not be shared between the testers and the contributors. One repeated theme is that the individuals who contribute specimens should have the right to access actionable results obtained from genetic analyses of their contribution and this right supersedes any argument that the members of the research community may erect based on practicality (Sándor—this issue).

Analyses of biobank plans and policies in the USA indicate that, while a small majority have systems in place to deal with some of the issues that are deemed “forward thinking,” such as ownership of specimens and the return of results to participants, only a small minority have the infrastructure in place to deal with issues related to the fate of specimens and data in the event of closing of the biobank (Cadigan et al.—this issue). Hopefully by highlighting the need for additional planning in these arenas, this issue of GTMB will help spur the oversight bodies of individual biobanks, as well as the professional societies and regulatory bodies that have purview with regard to biobanking to codify the development of a minimum uniform set of issues that all biobanks should address.

Some issues involved with biobanking and subsequent specimen analyses are not easily resolved, particularly when dealing with inherited/familial diseases (and propensities to disease). A prime example of this is where conflicts can arise within kindreds, wherein different individuals within a family have differing views of what information they want to know about themselves and their relatives, and what information they may or may not want relatives to be able to access about their own genetic makeup. These are not trivial issues and there is no one-size-fits-all solution, but our ethicist editors have worked to provide a framework as to how we might deal with such conflicts beginning with weighting need/right to know against severity/probability of disease.

Another important point addressed in this issue is that of subject participants being able to limit what can be tested for and ascertained from their biobanked specimens, and limit results returned to them (Elger and De Clerq, this issue). In line with the above discussions, particularly those that could prompt actionable beneficial and even life-saving results, our expert panel argues persuasively that the decision on the part of a patient to participate should be essentially all or none as the difficulties of parsing specimens based on project (disease) and then requiring a reconsent, or an additional consent, are too onerous to foist on the researchers. Thus, they argue that, if an individual wants to limit testing to a specific condition they should not participate at all in biobanking. Clearly, this position will not find universal acceptance, but again it points to the importance of the clarity of communication and thought that must accompany any request and decision to participate in a biobank.

This issue of GTMB stands as a testament to the vision and hard work of the team of bioethicist authors and editors to bring before the scientific and lay publics the issues surrounding what is both a timely and crucial topic, how to handle genetic data gleaned from biobank specimens. As in any field of scientific endeavor that involves professionals and interested citizenry, as the levels of interaction increase and the importance of the information learned increases, so must both teams increase their levels of openness and trust to be able to move the whole of society forward.