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August 22, 2026Journal of Community GeneticsOpen Access

Diagnostic delay, care needs, and trust in healthcare among persons with rare disease and their next of kin living in Sweden

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Authors

MSMaria Johansson SollerUppsala University HospitalJLJamie Linnéa LuckhausChildren's Oncology GroupSJStephanie JuranSwedish Chemicals Agency

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Implication

Cross-sectional survey reveals diagnostic delays over ten years link to lower healthcare trust and unmet care needs in rare disease patients and caregivers, highlighting gaps in specialized care.

Key Points

  • To evaluate the diagnostic trajectory, unmet care needs, and levels of trust in healthcare among individuals with rare diseases and their caregivers in Sweden.
  • Conducted an online cross-sectional survey in 2021 among members of Rare Diseases Sweden.
  • Included 942 respondents (both individuals living with rare conditions and their caregivers) representing 120 distinct diagnoses.
  • Most respondents received diagnoses in adulthood (44.4%), childhood (27.9%), or at birth (16.7%), with over one-third diagnosed within 6 months and 10% waiting longer than 10 years.
  • Represented conditions frequently involved complex healthcare needs (almost 50%), intellectual disability (>33%), and motor impairment (20%), while 70% had consulted a disease expert.
  • Diagnostic delays exceeding 10 years were associated with lower specialist consultation rates, higher perceived unmet healthcare needs, and decreased trust in healthcare professionals.

Cite This Study

Soller et al. (2026) studied this question.

synapsesocial.com/papers/6a895f0dca7ade938187d590https://doi.org/10.1007/s12687-026-00931-6
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Also Consider

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