This chapter focuses on showing legitimate ways for coping with uncertainties within the informed consent process of predictive genetic testing. It begins by indicating how uncertainty should be theoretically understood. Then, it describes three dimensions of uncertainty with regard to both the role of genes in pathogenesis and the benefit to patients of undergoing predictive genetic testing. Subsequently, the ways by which institutions tame these uncertainties are explained. Since viewing genes as exceptional informational entities plays an important role in taming uncertainties, it explains why this conception should be abandoned. Then, it discusses how institutional taming of uncertainty becomes a source of paternalism. What is stressed is that in order to avoid paternalism and ensure transparency within the informed consent process, open-to-uncertainty mechanisms should be implemented before the public and the individual. How patients should deal with potential implications of testing for their relatives is also considered.
Although uncertainty has been systematically understood as a situation in which knowledge about a topic can be described as inexact, unreliable or almost absent (Funtowickz and Ravetz, 1990), it is more useful, as Walker et al. have pointed out, to understand uncertainty as a multi-dimensional concept that in general terms refers to the “deviation from the unachievable ideal of completely deterministic knowledge of the relevant system” (Walker et al., 2003, 5). Therefore uncertainty represents a cognitive situation not necessarily related to a lack of knowledge (2003). In fact, an increase of knowledge “can either decrease or increase uncertainty” (Walker et al., 2003, 8).
Key Terms in this Chapter
Developmental Matrix: The developmental matrix is the dynamic biological system in which different causal factors, such as genes, RNA’s, promoters, enhancers and environmental influences interact to generate an adapted organism.
Informed Consent: Informed consent is a “special kind of autonomous action: an autonomous authorization by a patient or subject” ( Faden & Beauchamp, 1986 , 274). Although informed consent also has to do with legal or institutional procedures through which effective authorization is obtained, it should not be reduced to mere formal procedures. In fact, moral acceptability of procedures must depend on the extent “to which they serve to maximize the likelihood that the conditions of an autonomous authorization will be satisfied” ( Faden & Beauchamp, 1986 , 294).
Framing Uncertainties: Framing is the process by which uncertainties are reduced and hidden in a way that allows scientific institutions to manage them. By means of rhetorical devices, framing implies the reduction of intellectual representations of uncertainties, which provide people with tacit instructions about how they should act with regard to new technologies such as predictive genetic testing.
Postnormal Approach: The postnormal approach is “a new conception of the management of complex science-related issues” ( Funtowicz & Ravetz, 2003 , 1). It focuses on coping with uncertainties in a deliberative and open way that permits the satisfaction of both epistemic and policy demands. By implementing extended peer communities, the postnormal approach ensures transparent ways of mapping, assessing and deciding how uncertainties should be communicated.
Uncertainty: Any deviation from the “unachievable ideal of completely deterministic knowledge of the relevant system” ( Walker et al., 2003 ). In order to help policymakers to identify, assess and report uncertainty, it has been defined through a typology, which includes three dimensions of uncertainty, namely, location, nature and level of the uncertainty.
Predictive Genetic Testing: Tests that have been developed to predict the future health status of the individual on the basis of his or her genetic profile. As such, they include tests for finding single genes presumably associated with increasing risk of developing particular diseases, as well as tests for determining the predisposition of individuals to react differentially to drugs.
Paternalism: Paternalism is the interference with the autonomy of an agent in such a way that “he or she is not able to decide for himself or herself how to pursue his or her own good” ( Trout, 2005 , 409). Paternalism implies a lack of respect for autonomy because it interferes with the voluntary making of choices.