Incidental findings: the time is not yet ripe for a policy for biobanks

Incidental findings (IFs) are acknowledged to be among the most important ethical issues to consider in biobank research. Genome-wide association studies and disease-specific genetic research might reveal information about individual participants that are not related to the research purpose, but may be relevant to those participants'' future health. In this article, we provide a synopsis of arguments for and against the disclosure of IFs in biobank research. We argue that arguments that do not distinguish between communications about pathogenic conditions and complex genetic risk for diseases fail, as preferences and decisions may be far more complex in the latter case. The principle of beneficence, for example, often supports the communication of incidentally discovered diseases, but if communication of risk is different, the beneficence of such communication is not equally evident. By conflating the latter form of communication with the former, the application of ethical principles to IFs in biobank research sometimes becomes too easy and frictionless. Current empirical surveys of people''s desire to be informed about IFs do not provide sufficient guidance because they rely on the same notion of risk communication as a form of communication about actual health and disease. Differently designed empirical research and more reflection on biobank research and genetic risk information is required before ethical principles can be applied to support the adoption of a reasonable and comprehensive policy for handling IFs.A much discussed problem associated with biobank research is the return to participants of incidental findings (IFs): ‘a finding concerning an individual research participant that has a potential health or reproductive importance and is discovered in the course of conducting research but is beyond the aims of the study.''¹ How should such information be handled ethically responsibly in genome-wide association studies and disease-specific genetic research?In this paper, we argue that the discussion up until now has neglected a distinction that should be held in the forefront of the discussion, especially concerning genetic biobank research: the distinction between an incidentally discovered disease and an incidentally discovered increased genetic risk for disease of unclear predictive value. Biobank research and rapidly increasing studies in genomics, proteomics, and nutrigenomics continue to identify many genes and biomarkers associated with risk of disease. Genetic testing for monogenic disorders are well established in health services, but little is yet known of the best way to handle complex risk information associated with multifactorial disorders in which the predictive importance of individual elements – genetic, epigenetic, or environmental – will differ for different individuals. The value of being informed about an incidentally discovered genetic risk (be it inherited or caused by a virus) is therefore much more difficult to ascertain than that for an incidentally discovered pathogenic condition revealed, for example, in a brain imaging study.The aim of this paper is to exhibit the absence of a distinction between disease and complex genetic risk for disease in the discussion, and to show how the arguments therefore fail to address the more complex kinds of IFs that increasingly arise in biobank research. Further research should be conducted before the arguments can be considered conclusive.Disease risks can be discovered also in imaging studies, of course, a blood vessel with thin walls can imply an increased risk for stroke. Our focus in this paper, however, is on genetic biobank research, where IFs increasingly concern multifactorial risks for disease having both genetic and environmental dimensions, which we believe introduce complications that so far have not been addressed.