Renegotiation, uncertainty, imagination: Assemblage perspectives on reproductive and family planning with an Inborn Error of immunity

Hannah R Davidson; Leila Jamal; Rebecca Mueller; Morgan Similuk; Jill Owczarzak

doi:10.1016/j.socscimed.2024.117303

Renegotiation, uncertainty, imagination: Assemblage perspectives on reproductive and family planning with an Inborn Error of immunity

Soc Sci Med. 2024 Nov:360:117303. doi: 10.1016/j.socscimed.2024.117303. Epub 2024 Sep 6.

Authors

Hannah R Davidson¹, Leila Jamal², Rebecca Mueller³, Morgan Similuk⁴, Jill Owczarzak⁵

Affiliations

¹ Telomere Center, Johns Hopkins Medicine, Baltimore, MD, USA; Department of Genetic Medicine, Johns Hopkins Medicine, Baltimore, MD, USA; Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins Medicine, Baltimore, MD, USA. Electronic address: hdavids8@jhu.edu.
² Genetics Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD, USA; National Institutes of Health Department of Bioethics, Clinical Center, Bethesda, MD, USA.
³ Medical Ethics & Health Policy, University of Pennsylvania, Philadelphia, PA, USA; Division of Translational Medicine and Human Genetics, University of Pennsylvania, Philadephia, PA, USA.
⁴ Centralized Sequencing Program, National Institute of Allergy and Infectious Disease, Bethesda, MD, USA.
⁵ Department of Health, Behavior, and Society, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD, USA.

PMID: 39265231
PMCID: PMC11490359 (available on 2025-11-01)
DOI: 10.1016/j.socscimed.2024.117303

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.

Keywords: Assemblage; Inborn error of immunity; Qualitative research; Reproductive planning.

MeSH terms

Adolescent
Adult
Cross-Sectional Studies
Family Planning Services*
Female
Humans
Imagination
Male
Middle Aged
Qualitative Research*
Uncertainty

Grants and funding

Z01 AI000647/ImNIH/Intramural NIH HHS/United States