Effective Provider-patient Communication of a Rare Disease Diagnosis: A Qualitative Study of People Diagnosed with Schwannomatosis

Objective: To understand diagnostic communication preferences of patients with schwannomatosis, a rare disease.

Methods: Eighteen adults with schwannomatosis from across the United States participated in semi-structured phone interviews about their diagnostic experiences. Interview transcripts were inductively coded using thematic analysis.

Results: We identified three elements of effective diagnostic communication: education (particularly about etiology, prognosis, and treatment options); psychological support (to cope with the new diagnosis and any prior diagnostic harms); and efforts to develop therapeutic alliance (i.e. feelings of collaboration, trust, and social-emotional rapport). Poor communication was characterized by inadequate or jargon-heavy explanations, perceived disinterest in or disbelief of symptoms, and lack of partnership. Effective communication helped people feel informed and cope with their condition; poor communication could cause significant psychological distress.

Conclusions: During diagnosis, patients need education and psychosocial support; the presence of therapeutic alliance between clinicians and patients facilitates this assistance. Diagnostic communication that includes these elements helps patients proactively engage in healthcare decision-making and connect with appropriate treatments.

Practice Implications: When disclosing a rare disease diagnosis, clinicians should meaningfully educate patients about the disorder and acknowledge diagnosis-related psychosocial stressors. Approaching diagnosis empathetically and collaboratively helps foster therapeutic alliance. Referrals for psychological and genetic counseling are often warranted.