How do patients with rare diseases experience the medical encounter? Exploring role behavior and its impact on patient-physician interaction

Health Policy. 2012 May;105(2-3):154-64. doi: 10.1016/j.healthpol.2012.02.018. Epub 2012 Mar 29.


Objectives: Empirical research shows that patients with severe illnesses prefer the physician to dominate decision processes and provide the information needed. However, in rare diseases, due to the low prevalence and the lack of expertise, the patient is forced to become knowledgeable about his own disease state. Objectives of this study were to describe the experiences of patient-physician interaction in rare diseases, to develop an empirically derived typology of interaction patterns and to explore the antecedents of these interaction patterns, with a special focus on role behavior. Building on these results, implications for health care policy are made.

Methods: We designed an exploratory study as a series of semi-standardized interviews with patients suffering from rare diseases. We extracted the following six rare diseases: amyotrophic lateral sclerosis, Duchenne muscular dystrophy, epidermolysis bullosa, Marfan syndrome, neurodegeneration with brain iron accumulation and Wilson's disease. A total of 107 interviews were recorded, transcribed and analyzed thematically in accordance with the grounded theory tradition.

Results: As suggested, insufficient expertise of the healthcare providers proved to be a major problem in the highly specialized treatment process of rare diseases. Here, the patient often becomes an expert in his disease. Therefore, we identified the patient-directed interaction as a widely experienced communication pattern among patients with rare diseases. Our study also showed that role discrepancies have a major impact on communication processes in this context.

Conclusions: People with rare diseases often face challenges, due to the low prevalence and the resulting lack of knowledge of their healthcare providers. Communication processes in this context are mainly affected by the role behavior of both the patient and provider. The present study showed the relevance of the provider's ability to acknowledge the active role of the patient as an informed, involved and interactive partner in the treatment process. However, allowing the patient to control therapy may require a change of mind-set with some long-standing traditional roles in healthcare.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Child
  • Child, Preschool
  • Epidermolysis Bullosa / diagnosis
  • Epidermolysis Bullosa / psychology
  • Epidermolysis Bullosa / therapy
  • Female
  • Health Policy
  • Hepatolenticular Degeneration / diagnosis
  • Hepatolenticular Degeneration / psychology
  • Hepatolenticular Degeneration / therapy
  • Humans
  • Infant
  • Interviews as Topic
  • Iron Metabolism Disorders
  • Male
  • Middle Aged
  • Muscular Dystrophy, Duchenne / diagnosis
  • Muscular Dystrophy, Duchenne / psychology
  • Muscular Dystrophy, Duchenne / therapy
  • Neuroaxonal Dystrophies / diagnosis
  • Neuroaxonal Dystrophies / psychology
  • Neuroaxonal Dystrophies / therapy
  • Physician's Role / psychology
  • Physician-Patient Relations*
  • Rare Diseases / diagnosis
  • Rare Diseases / psychology*
  • Rare Diseases / therapy
  • Role
  • Young Adult

Supplementary concepts

  • Neurodegeneration with brain iron accumulation (NBIA)