Genetic Diagnosis, Bodies, and Imagined Family: Assemblage Perspectives On Reproductive And Family Planning With an Incompletely Penetrant and Variably Expressive Condition

Incompletely penetrant and variably expressive (IP/VE) conditions expand our understanding of living with a disease-causing genetic variant and complicate patients’ experiences of family planning. The experience of living with a heritable condition, or experiential knowledge, can itself inform reproductive decisions. However, prior accounts of experiential knowledge fail to adequately describe the uncertainties experienced by people with IP/VE conditions. To address this gap, we conducted a qualitative, cross-sectional study that used Gilles Deleuze's Assemblage Theory to render the impacts of experiential knowledge on reproductive planning more visible for individuals living with Inborn Errors of Immunity (IEI) that exhibit IP/VE.
Participants were between ages 18 and 48, had a diagnosis of an IEI, and were research participants at the National Institutes of Health (NIH). Using an abductive thematic approach, data analysis focused on people, ideas, and non-human objects embedded within participants’ experiences and reproductive/family planning. This presentation will report on three key findings, namely that: 1) genetic diagnosis invited renegotiation and revision of illness in family context; 2) the body was understood as an uncertain resource from which to plan reproductive futures, including consideration of artificial reproductive technologies (ART), and 3) participants reconciled conflicts between experiential knowledge and their reproductive hopes through considering “hypothetical children”. By provoking renegotiation, uncertainty, and imagination in reproductive planning, these findings re-conceptualize experiential knowledge as an assemblage of human and non-human objects among a subset of adults with IP/VE conditions.

Authors: Hannah Davidson, Johns Hopkins University; Rebecca Mueller, University of Pennsylvania; Morgan Similuk. National Institute of Allergy and Infectious Disease; Jill Owczarzak, Johns Hopkins University