Abstract
Advances within the new genetics expand our understanding of the scope and presentation of inherited conditions, particularly to include incompletely penetrant and variably expressive conditions. These features can complicate patients' reproductive and family planning processes, in part because they expand the possibilities of life with an inherited condition. Despite many inquiries into reproductive planning with an inherited condition, accounts of experiential knowledge and reproductive planning fail to adequately describe the uncertainties experienced by people living with incompletely penetrant and variably expressive conditions. To address this gap, we conducted a qualitative, cross-sectional study using assemblage theory to characterize the impacts of experiential knowledge on reproductive planning for individuals living with Inborn Errors of Immunity (IEI) that exhibit incomplete penetrance and variable expressivity. Eligible participants were between ages 18 and 48, with a diagnosis of either GATA2 deficiency, PIK3CD gain-of-function disorder, or CTLA4 deficiency. Using an abductive thematic approach, attention was paid to the people, ideas, and non-human objects embedded within participants' accounts of disease experience and reproductive planning. Organized around the objects of genetic diagnosis, the body, and hypothetical children, this analysis illustrates how disease can be conceptualized as an assemblage of human and non-human objects which provoke numerous actions and affective engagements in reproductive planning. These engagements include renegotiation, uncertainty, and imagination. By emphasizing the distribution of agency and action across systems, processes, and relationships, assemblage theory invites novel ways of understanding the role of experiential knowledge on reproductive planning.