Communicating Uncertainty in Medical Genetics

• In Event: How Do They Understand the Science? Communicating Science, Risks, and Disasters 1

Abstract

Laboratories regularly return a class of results from genetic testing called variants of uncertain significance. These variants are unexpected discoveries, but so little is known about them that they cannot be classified as either disease-causing or benign. Most important is that they are not meant to be used in informing healthcare behaviors. Their implications for a patient’s wellbeing are fundamentally unknown. When patients receive this information, their clinicians repeatedly underscore the uncertainty of these results and reiterate that they are not ‘medically actionable.’ However, my qualitative interview study has shown that many patients (nearly half of my interviewees) interpret the clinicians’ claims of non-knowledge as ascriptions of risk and proceed to alter their health-seeking behaviors according to their reinterpretations of the uncertain genetic variants. In my talk, I discuss three cases of such reinterpretations – including fears related to misattributed paternity, stomach cancer, and life expectancy – and argue that popular background understandings of healthcare lead to a conflation of non-knowledge with precarity. I argue that interventions against medical advice are attempts to control and moderate potential vulnerabilities. In so doing, I lay out a tripartite schema of non-knowledge in disclosing test results in Medical Genetics – risk, uncertainty, and randomness – and propose a model for communicating the differences between them across the epistemological divide to the lay patient.

Author

• Colin Halverson, Vanderbilt