Paper short abstract:

Exome sequencing generates molecular objects of various causalities tying together kin and clinical networks in new configurations

Paper long abstract:

Clinicians engage the new technique of exome sequencing to provide a molecular diagnose for patients with intractable symptoms. The resulting output, a laboratory report, contains genetic variants of different levels of causality classified in three categories: pathogenic variants, likely pathogenic variants, and variants of uncertain significance. Based on observations of genetic counseling sessions in a clinic, we examine how even variants of low presumed causal functionality become objectified in the interaction between clinician and patient, taking on a life of their own in the patient's diagnostic odyssey with consequences for diagnosis, prognosis, and treatment. However, the objectification does not stop with the patient. Due to the genetic nature of exome sequencing, the laboratory report has family spillover potential. We investigate how clinicians aim to contain these spillovers to the patient with one important exception of reproductive risks where the clinician presumes a recurrence not simply of symptoms but also of diagnosis in unborn siblings. Patients, in contrast, evaluate the variants in the context of extended kin, blurring the boundaries between symptoms and genotype. We then evaluate the processes by which very different variants become objectified as socioclinical relevant biologies and tie together different configurations of people in risk and susceptibility categories. Our argument speaks to the literature on the materialization of biological ties in kinship and clinical networks.