Findings: The Time Is not yet Ripe for a Policy for Biobanks
© Springer Science+Business Media Dordrecht 2015
Deborah Mascalzoni (ed.)Ethics, Law and Governance of BiobankingThe International Library of Ethics, Law and Technology1410.1007/978-94-017-9573-9_9Incidental Findings: The Time Is not yet Ripe for a Policy for Biobanks
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Uppsala University, Uppsala, Sweden
This chapter has been already published as: Viberg J., Hansson G.M., Langenskiöld S., Segerdahl P. 2012. Incidental findings: the time is not yet ripe for a policy for biobanks. European Journal of Human Genetics 22: 437–441. We kindly thank the publisher for allowing the reprint.
1 Introduction
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’ (Wolf et al. 2008a). 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 incidental findings 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.
2 Synopsis of the Argumentative Field
We will not conduct a complete literature review of the arguments that have been used in ethical discussions of IFs in biobank research, but will only chart the most important kinds of arguments that have been used to discuss the subject, in order to show how the distinction mentioned above is downplayed or neglected.
2.1 Arguments for Disclosure
2.1.1 Disclosure Is Beneficent for Individuals
A common normative statement in the discussion is that disclosure should be an option for participants because it will maximize their benefit and minimize harm if participants receive timely risk information. Under this argument, conditions have been formulated in which IFs are likely to impart benefit to the participant and therefore should be disclosed. If the genetic information reveals significant risk of a condition likely to be life-threatening, can be used to avoid or to ameliorate a condition likely to be grave, or can be used in reproductive decision-making, the information is held to be beneficent and appropriate for return (Wolf et al. 2008a, 2012). It has been emphasized that incidental findings are beneficent and should be returned if they are analytically valid, clinically significant, and actionable (Knoppers et al. 2012).
2.1.2 Disclosure Promotes Autonomy
The principle of respect for persons, or respect for autonomy, is used as a premise in another argument for disclosure. If people get important information in time, they can change their lives and therefore be more autonomous; by knowing, individuals can take control over their lives and direct it as they wish. Respect for persons includes respect for participants’ self-determination and therefore also for their need to have information relevant to their health and well-being, and thus motivates disclosure (Wolf et al. 2008b). In a similar vein, it is argued that if results have clear clinical use, or are relevant to life decisions, there is an obligation based on respect for persons to disclose them. Furthermore, it is argued that it would be paternalistic to protect participants from potential anxiety instead of letting them know what is known about them (Affleck 2009).
2.1.3 Reciprocity Requires Disclosure
Reciprocity between researchers and participants can be maintained by giving participants something in return for the participants’ donation, in this case individual research results. It has been emphasized that participants’ contribution to research cannot be assumed to be purely altruistic with no expectations of some personal gain, including knowledge, in return (Quaid et al. 2004). This argument holds that people deserve something in return for their contribution to an enterprise or to society (Wolf et al. 2008b). It may also be argued that research would benefit from disclosing individual research results to participants; because offering something in return might motivate participation, the offering of individual findings could be useful in recruiting and retaining research participants (Murphy et al. 2008). Reciprocity may also promote trust between researchers and research participants (Knoppers et al. 2012).
2.1.4 Return of IFs Accords with Participants’ Wishes
Empirical surveys show that many people want to receive individual results (Meulenkamp et al. 2010; Murphy et al. 2008). People do not consider their contribution as a gift, but participate in research with the expectation of getting something in return (Gaskell et al. 2011). Another study of public preferences suggests that people want to receive individual research results and that they believe that researchers have a duty to inform participants about mutations in their genes. This wish to receive individual results is typically motivated by the potential of such information to be used to improve health through changing health-related behaviours, getting treatment, or preventing disease. Some informants in this survey maintained that findings about them actually belong to them as a matter of ownership (Bollinger et al. 2012).
2.2 Arguments Against Disclosure
2.2.1 Practical Issues Make Disclosure Unfeasible
It is sometimes claimed that it would be too time-consuming and costly to contact research participants, and that disclosure would therefore inhibit important research (Bledsoe et al. 2012a). It has also been argued that variability in biobanks and practical implementation issues (biobanks vary in scale, biobank projects take a variety of forms, samples may be drawn from healthy participants or from those with disease) make it difficult to have a ‘one-size-fits-all’ approach to disclosing individual results. Moreover, the return of individual results to participants requires that biobanks retain links to identifying information, which implies the risk of breaching confidentiality. The issue of who should be responsible for re-contacting participants, whose samples may be involved in many projects over a long period of time, is also unresolved (Bledsoe et al. 2012b).
Another argument posits that if participants have a right to know about IFs, they must also have a corresponding right not to know (Kaye et al. 2010). If participants have the right to choose whether or not to know, this option should therefore be prominent on the consent form (Ravitsky and Wilfond 2006). This brings up further practical issues about how informed choices can be made about disclosing IFs, since by definition not even the researchers know what kinds of IFs may be found.
Another practical argument against disclosure is that it is virtually impossible to identify such findings in much biobank research. Cho, for example, mentions that it can be difficult to distinguish IFs from other findings in genetic and genomic research because the research question can be very open-ended and descriptive (Cho 2008). Virtually nothing (or everything) is ‘incidental’ because the research question rather is like an imperative to find complex patterns, the components of which may not be known at the outset.
2.2.2 Disclosure Can Harm Participants
Disclosure of IFs can be harmful to participants if it is not valid or if no treatment can be offered. If participants cannot or do not know how to respond to IFs, they may suffer anxiety (Forsberg et al. 2009; Hens et al. 2011). Returning findings can have negative consequences for both biobanks and participants. Procedures must be in place to ensure that the analysed sample is actually from the person it is believed to be from. Participants can be harmed by receiving risk information that does not apply to them. Such safety demands are lower in exploratory biobank studies than in biobanks used for clinical trials. Their results are therefore less trustworthy on an individual level. Participants also risk being harmed by being informed about and acting on IFs whose quality, accuracy, clinical utility, or even origin is uncertain (Bledsoe et al. 2012b). Ensuring the same quality in explorative studies as is required for clinical trials may arguably be too expensive for the biobank systems.
It is further important to consider that giving participants information about IFs blurs the distinction between research and health care, a confusion that resembles the therapeutic misconception (Forsberg et al. 2009; Solberg and Steinsbekk 2012). The therapeutic misconception is held by individuals who believe that they receive care when they function as research participants.
Randomization and other aspects of the scientific method, however, prohibit the application of personal care (Appelbaum et al. 1987). The therapeutic misconception is traditionally discussed in connection with clinical trials. When IFs in biobank research are seen as a basis for decisions about treatment, however, this can create expectations among those who donate samples that resemble the therapeutic misconception. Receiving their results back may encourage participants to assume that the research was carried out for their own personal benefit. If participants are encouraged to expect individual results, they may think of their research participation as akin to receiving some form of care and they may expect treatment for risks or conditions suggested by their results. If, however, they do not receive further information and they are not recontacted, they will tend to assume that all is well, which could be also harmful rather than helpful.