Abstract
Recent developments in genomics have re-launched the debate about biobank ethics. Genomics developed into a landscape of possible uses of personal information, the end of which is virtually impossible to foresee. The public discussion about genomics changed from an extreme of excessive alarm into a seemingly quiet acceptance of a set of different practices, including broad consent for extensive biobanking, the creation of huge consortia that share data across projects and borders, and genomic screening of entire populations for some years.
Advances in genetic technologies today offer the possibility to sequence whole genomes in order to exploit biobank resources at very little cost. Recent developments in the field now look into rare mutations, since common variants did not provide the expected results. This calls for very large collections in order to obtain meaningful results in the identification of rare mutations and detailed phenotypes, even more than before. It also shows that the value of biobanks lies increasingly in large numbers. Data-sharing in consortia or on public databases has become the rule, rendering it difficult to trace all the secondary uses that may occur with a set of data. At the same time, these valuable specimen collections increase their value, especially if directly linked to health records in order to enrich research data over time.
In this climate, some experiences with the real implications of secondary uses of data, the availability on the internet of genetic testing, and the tendency to introduce results of genetic research in the public health sphere, has re-opened doors to public anxiety. Moreover, the introduction of whole genome sequencing and exon sequencing has opened up new challenges for research entities, especially related to unexpected results communications, and community-level implications of genomic data. Participation has often been a hard obstacle in biobanking, and many controversies that have arisen in recent years have eroded public trust further. Participation in fact is a very sensitive issue: if, on the one hand, the ethically robust protection of participants’ interests and autonomy has been perceived to be too onerous for science entities, yet on the other hand, complete freedom of use in the name of solidarity and progress has been regarded as disempowering participants. If the debate between broad versus narrow consent is theoretically still ongoing, recent events have challenged some of the policies currently used in the biobanks world, such as the possibility to ensure privacy and the fact that participation in research is an individual choice. Broad consent has been used widely for biobank-related research and regarded as ethical, whereas assumptions that made participation under broad consent were regarded as ethically and legally acceptable. Cornerstones are legally valid only under the assumption that data collected may be used within high security standards that ensure privacy, and the right to withdraw from the study has been deemed always possible. But whole genome scan technologies, and the use of data in consortia and public databases, have challenged this assumption. Anonymity can no longer be guaranteed, and withdrawal may suffer from profound limitations if the materials and the data are shared worldwide.
The well-known Havasupay lawsuit against Arizona State University for the use of genetic data outside of the declared main purpose, clearly demonstrated the hard feelings and damage that the use of data for secondary uses can generate if not performed in a proper context of “participated communication”, with resultant great damage to ongoing projects. The Grim Sleeper Case in the USA, in which a convict was identified through what is called “familial DNA searching”, underlined some of the possible super-individual implications of being in a database. The HELA case recently highlighted by the book by R. Skloot, and the famous Moore case, brought into light the public distrust caused by the commercial exploitation of donated material and of the role of consent and information. The national Swedish Biobank Life-Gene was recently stopped because the ‘informed consent’ in use was considered too broad, therefore not legally informative enough, and therefore not legally compliant with the Swedish Data Inspection Board research commission.
The public’s trust in science is greatly challenged by this type of case. A great deal of this tension lies in the underlying assumptions in much of the debate that perceives the role of the patient participant as “the adversary”, to convince and to manipulate in order to get the most out of him/her, instead of as the partner with whom science shares a common goal: getting the best results from the data. Participants are often regarded as a source of data with very little knowledge of the researcher’s goals and priorities, and with little say on how samples and data are used. Current governance of biobanks looks at the acquisition of samples as if they were properties for which the most convenient contract should be signed by donors (a ‘one size fits all’ approach).
In light of all these trends it becomes clear how there is a need to dramatically change the way we look at ethics and participation in research. This was the focus of the conference held in Rome (28−29 September 2011) by the Center of Biomedicine of the European Academy of Bolzano, under the heading ‘Patientcentricity’.
Research is changing rapidly and ethics should follow. All the articles collected in this issue share the idea of focusing on existing good practices with the aim of suggesting a possible shift into governance structures. A key feature of this approach is that they look at a different social and relational model, with participants considered as partners on the same level in research, and try to activate resources in order to keep an ongoing conversation among the subjects involved. This shift implies a complete change in perception of the participant, to that of an active and interested partner and not simply as a research subject. In fact, many activist experiences demonstrate that the public is interested in participating in research. The real challenge is finding ways in which a viable approach can be translated into the research area facing the challenge of trust, without hampering science.
We still rely on old tools that have proven not to address many of the challenges posed by the ‘new’ science. New media technologies that greatly support science, industry and dissemination may be as well served in creating a diverse way of governing science itself. Experiences born from patient needs and some local examples have already proved that IT technologies may greatly help science in being more effective in translating ethical principles and procedures into practice.
Such new technologies, regarded as ethically substantive, may be identified as patient centric initiatives (PCIs). Genetic Alliance experience shows that offering a trustful environment that guarantees a fair policy and proper involvement and engagement also enhances participation and support. ‘23 and me experience’ showed that by directly involving participants and asking for involvement in research, you may achieve good performance.
During the conference several key aspects of PCIs were identified, such as: placing participants in control through the use of media technology, promoting active participation by facilitating communication, and appealing to public goods in order to accelerate research and improve clinical outcomes. PCIs were defined during the conference in Rome as “tools, programs and projects that empower participants to engage in the research process,” but what should not be forgotten is that PCIs also translate a policy approach that tries to build bridges, and at the same time empower research performance and participants’ autonomy.