The social construction of the "good doctor": Expectations of physicians among adults with NF1.

Neurofibromatosis type 1 (NF1) is a rare, genetically determined condition characterised by clinical variability, diagnostic uncertainty, and the need for long-term, multidisciplinary care. In this context, patients' experiences are shaped not only by biomedical factors but also by interactions with healthcare professionals. This study explores how adults with NF1 define the characteristics of a "good doctor" based on their experiences within healthcare systems. A qualitative study was conducted using semi-structured, in-depth interviews with 93 adults diagnosed with NF1. An interpretive qualitative approach was adopted, and the data were analysed using Reflexive Thematic Analysis to examine how patients' expectations toward physicians are formed in the context of ongoing care. Participants' accounts revealed that the "good doctor" is understood as a context-dependent concept shaped by patients' experiences rather than a fixed set of clinical competencies. While medical expertise was considered important, participants emphasised communication, empathy, and acknowledgement of patients' perspectives and experiences. Experiences of delayed diagnosis, fragmented care, and inconsistent information were found to shape expectations toward physicians and influence trust in the healthcare system. Negative interactions, including dismissal of symptoms or lack of understanding, contributed to disengagement from care, whereas respectful, partnership-based relationships supported better coping with the condition. Patients' expectations toward physicians are shaped by their long-term experiences of living with NF1 and navigating healthcare systems. The findings highlight the importance of integrating clinical expertise with patient-centred communication and coordinated care. Strengthening these aspects may improve patient trust, engagement, and overall quality of care in rare genetic conditions.