This research project examined the transition of genomic technologies from the laboratory to applied settings when both the technology and the utility of its application remain indeterminate. We studied the stabilization of innovative technologies in settings of their use, the communication of techno-scientific findings to relevant stakeholders, and the incorporation of such findings in people’s lives. Specifically, we studied the incorporation of whole exome sequencing in clinical settings, an innovative genomic technique that promises to reveal nearly 85% of disease mutations. We conducted research in three different sites: data-board meetings where genomic scientists decided which genetic variants to report out, clinic consultations where geneticists returned the test results to families, and interviews with family members about their interpretation of the test results and the social impact of whole sequencing results on families' lives. The project resulted in 8 publications in peer reviewed journals in the field of clinical genetics, science studies, and medical sociology. The publications spoke to issues in the science studies and sociological literature on uncertainty, standardization, actionability, communication, and disability.

            We found that laboratory scientists select variants with different levels of causality (from pathogenic to variants of uncertain clinical significance) to report out to clinicians. In the clinic, however, these nuances of causality may be disregarded because clinicians have the professional authority to interpret test results in the way that best fits the patient’s situation. Consequently, they may render uncertain causality more certain or dismiss these variants. Such interpretive steps are highly consequential because they have repercussions for whether a patient will receive a diagnosis. When talking to families, we also found that a genetic diagnosis has consequences beyond medical care: they may inadvertently reduce or put blame on some relatives for causing the disease, affect reproductive decision-making, and the diagnosis may be used to access disability services. Assessments of clinical actionability of genomic technologies therefore should also take the social consequences of these technologies into consideration. Finally, at a micro level of the language used to communicate “bad” genetic news, we found that clinicians often put a positive spin on the results. 

Last Modified: 07/09/2018
Modified by: Stefan Timmermans