The final issues discussed in the article, Research ethics and the challenge of whole-genome sequencing focus on the fact that researchers, biobanks, companies that may fold tomorrow hold your DNA once you submit it for analysis. In signing an informed consent for your DNA to be sequenced, and maybe even for the information to be published publicly, you are giving up your autonomy. You--in the form of the genetic material that makes you who you are--now is available to others.
The authors state:
Although there is a long history of using biological material for research beyond the scope of the original study for which it was collected, the practice of broad data sharing in publicly accessible electronic databases emerged in the context of large-scale sequencing studies, such as the National Human Genome Project (USA) and the International HapMap Project. For these studies, unrestricted data release was essential because the primary purpose of the research was to create a reference genome or catalogue of genetic variation that was easily accessible and freely available to use for a host of other research purposes. In the early years of human whole-genome sequencing, the goals are similar: to advance technology and increase our understanding of genetic variation in humans. Thus, there are rationales supporting the position that individual human whole-genomes sequenced in the context of federally funded research ought to require consent for broad data sharing and unspecified research uses. However, such an approach might challenge traditional ideas of informed consent, which, in general, require that consent is obtained for each study that links to identifiable information. Can a person consent to something that they have no details about? This tension between the desire to support research in the public good and the need to protect individual rights and established ethics norms has become a major policy issue in other domains, particularly biobanking.
The proliferation of electronic databases for genetic and associated information and the international commitment to broad data sharing in genomic research have made blanket consent increasingly desirable. However, the many possible uses for this information increases as whole-genome sequencing becomes more widespread, creating the potential for research to be conducted that is far outside the scope of the research for which the samples were originally collected. This heightens the legal and ethical issues that are already associated with the use of a blanket consent approach in other contexts.
Indeed, the secondary use of samples and data pose not only privacy and confidentiality issues, as discussed above, but also potential threats to the autonomy of individual research subjects and groups. Individuals who willingly gave samples for the purpose of studying a disease of interest might be at risk of having their sample used to study other phenotypes, such as personality traits, IQ, behavior or evolution and natural selection. As whole-genome sequencing becomes more common, these data become much more amenable to the study of complex traits. Although the study of other phenotypes might potentially be more useful to the research community, some might be less acceptable to the research subjects.
For participation in a research or other study, they suggest that:
At a minimum, individuals ought to be able to participate in a particular genome-wide association study without having to consent to more extensive data sharing or broader research use.
For the hundreds, perhaps thousands of samples already collected for research and donated to companies selling online sequencing services, the authors conclude:
For existing samples, data sharing and future use must be consistent with the original informed consent. Databases will need to be designed to restrict certain uses for which there is no consent, and secondary users must exercise professional integrity by ensuring that their research does not go beyond the scope of the participant’s original consent. In some circumstances in which the participant has agreed to re-contact, re-consent might be warranted. Therefore, policy work should focus on developing consent mechanisms that can be reconciled with existing consent norms, including the analysis of the appropriateness of a broad future-use consent model. In the meantime, genome researchers must ensure that research remains within the spirit of the original informed consent, or re-consenting should be considered (recommendation 3.1).
The future is here. Now is the time for us to consider the implications of whole-genome sequencing and help shape how data will be delivered, shared with relatives or others, and used in yet-undetermined ways.