Paper short abstract:

Exome sequencing is transitioning from laboratory to clinic to diagnose patients. Geneticists exert epistemic authority by going beyond the laboratory report while offering parents insight into their judgment. We relate these findings to the literature on standardization, uncertainty, and big data.

Paper long abstract:

Exome sequencing is a technological platform making the transition from "bench" to "bedside," meaning that a technology used for research purposes needs to meet demanding federal quality requirements of clinical laboratories. Social scientists have noted that the introduction of innovative technologies into work settings is a particularly critical time in a technology's life cycle because implementation requires the articulation of assumptions that will quickly slide back into a taken-for-granted infrastructure once a technology is routinized. Such introductions constitute a handover from the people designing, packaging, and marketing a technology to the users of the technology—although the distinction between user and designer remains blurry. We examine geneticists returning exome sequencing results to families. We find that in genetic consultations, clinical geneticists exert epistemic authority by interpreting genomic findings in ways that go beyond the laboratory report while also offering parents insight into the basis of their judgment. This news delivery approach facilitates parents' involvement in the determination of genetic causality and allows physician and parent to collectively define the boundaries of uncertainty. We then show that that the match between phenotype and genotype is circumscribed by the management of the causal ambiguities of genomic findings. We relate these findings to the literature on standardization, uncertainty, and management of big data.