Abstract Genetic testing is often portrayed as a neutral tool for clinical clarification. However, in the context of rare diseases, it plays a far more complex role in the moral, bureaucratic, and social experiences of patients and families. Drawing on qualitative research conducted in Chile, this article explores how genetic testing is not only a diagnostic resource but also a symbolic and institutional technology that shapes how care, legitimacy, and identity are negotiated across multiple domains. We analyze 11 narrative interviews with patients and family members affected by rare diseases, alongside 10 interviews with healthcare professionals, including geneticists and clinicians, and two hybrid forums. Using a grounded, interdisciplinary approach informed by Science and Technology Studies (STS) and medical sociology, we identify four key themes: (1) the moral resolution offered by diagnosis after long periods of uncertainty; (2) structural barriers to accessing testing, including social capital and institutional discretion; (3) the epistemic ambiguity of genetic information, especially in cases of inconclusive results; and (4) the mobilization of diagnoses beyond the clinic, including in education, legal systems, and reproductive decisions. Our findings suggest that genetic testing functions as a moral and classificatory technology: it produces recognition, redistributes responsibility, and serves as a resource for navigating fragmented care systems. For genetic counselors, this research offers insights into how patients and families interpret, act on, and negotiate the consequences of genetic information. Understanding the broader moral and institutional landscape in which testing occurs can enhance counseling practices, particularly in under‐resourced or structurally unequal contexts. This study contributes to growing efforts to embed genetic counseling in a wider social and ethical framework. By attending to how genetic testing is lived, contested, and deployed, we highlight the need for a counseling practice that is attuned to both genomic data and the realities of care.
Schöngut‐Grollmus et al. (Mon,) studied this question.