The genomic quagmire of risk and uncertainty: Can communication scholars contribute to making the way through?

Abstract

Uncertainty has long been recognized as a central issue in healthcare. Paradoxically, rather than contributing to resolving uncertainties, rapid technological and scientific advances in genetics and genomic medicine in the last couple of decades, have led to more ‘extreme uncertainty’ that medical professionals face nowadays in dealing with complex health issues. In this paper I examine uncertainty and risk communication in the context of advanced exome sequencing testing. More specifically, I explore how risk is communicated to clients in the light of ‘extreme uncertainty’ of an exome sequencing result in the context of pre-conception counselling. The context I focus on is extremely sensitive: I use a case study of a couple who suffered two perinatal losses due to fetal akinesia, a condition characterized by multiple developmental abnormalities. The ‘quagmire’ of the situation is that the advanced technology of exome sequencing has identified changes in over 400 genes; however, these changes have never been previously identified or described, and no clinical medical association was found between those genes and the fetal condition. In other words, the medical professionals face ‘extreme uncertainty’ as to the reasons why the couple lost their two pregnancies. The couple is making the decision as to their further reproductive options and choices. Using the methods of discourse analysis, I demonstrate that from communication perspective uncertainty serves as a resource in the decision making process. In particular, explicit acknowledgement of uncertainty, on the one hand, and its mitigation, on the other hand, allows the participants to recognize the uncertainty and to ‘activate’ it so that it serves to inform further or new steps in the decision making process. In examining the specific discourse strategies that the participants draw on in dealing with uncertainty I attempt to ‘cross—fertilize’ the insights from decision theory in other fields of inquiry that have examined decisions under severe uncertainty (or what they refer to as ‘decisions under ignorance’). To conclude, I discuss how awareness about communicating risk and uncertainty in evolving genomic counselling settings may help professionals deal with this and other ‘quagmires’ that technological and scientific advances may bring on in the future.