Chronic Diagnostic Liminality: A Conceptual Framework on the Familial Impact of Confronting Clinical Uncertainty

ABSTRACT

Genetic testing is integral to diagnosing rare diseases, yet it frequently yields Variants of Uncertain Significance (VUS), leaving families without definitive diagnoses. The psychosocial impact of this diagnostic ambiguity remains understudied, particularly in non‐Western populations. We conducted a qualitative study using semi‐structured interviews with the parents of 21 children with undiagnosed diseases who underwent genetic testing and received VUS results at two tertiary centers in Türkiye. Interviews were conducted in Turkish, transcribed, and translated into English. We analyzed the corpus using Reflexive Thematic Analysis, situated within a contextualist paradigm and informed by descriptive phenomenology. Our analysis revealed an exhausting medical journey in which genetic testing is approached hopefully as a critical turning point, but where prolonged waiting and eventual uncertainty often exacerbate feelings of isolation and emotional overwhelm. We identified a thematic structure comprising three domains. The first, Turning Point, addresses genetic testing in the context of families' diagnostic journey and the cognitive and emotional experience of seeking a diagnosis. The second, Support Ecosystem, centers on those whom families rely upon as they navigate genetic testing. The third, Navigating into a Liminal Future, addresses families' attitudes toward an uncertain future shaped by the genetic testing journey. Building on this thematic structure, we propose the Chronic Diagnostic Liminality (CDL) framework, integrating uncertainty‐in‐illness, chronic liminality, and ambiguous‐loss theory, as an exploratory account of how families come to adapt to, rather than resolve, enduring diagnostic ambiguity. Receiving a VUS result is a complex psychosocial stressor that further burdens families of a chronically ill child without a clear diagnosis. Genetics clinics could integrate these findings to help families bolster their inner sources of strength, manage expectations, and face diagnostic ambiguity with better support.