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Review
. 2025 Jan-Dec:16:21501319241311567.
doi: 10.1177/21501319241311567.

Integrated Care for People Living With Rare Disease: A Scoping Review on Primary Care Models in Organization for Economic Cooperation and Development Countries

Nada Vidic  1 , Anna McGlynn  1   2 , Fatemeh Abdi  1 , Chun Wah Michael Tam  1   3 , Reginald Michael Crampton  4   5 , Kean-Seng Lim  6 , Elizabeth Emma Palmer  1 , Natalie Taylor  1 , Ben Harris-Roxas  1   7
Affiliations
Review

Integrated Care for People Living With Rare Disease: A Scoping Review on Primary Care Models in Organization for Economic Cooperation and Development Countries

Nada Vidic et al. J Prim Care Community Health. 2025 Jan-Dec.

Abstract

Introduction/objectives: Individually rare, rare diseases are collectively common resulting in frequent health system use. Navigating the health system persists as a challenge. Primary care provides longitudinal contact with the health system and is placed to provide integrated rare-disease-care.

Methods: This scoping review used Joanna Briggs Institute and PRISMA methods with a Consolidated Framework for Implementation Research based data extraction tool to find how integrated rare-disease-care is delivered, enablers and barriers to the same, in primary care settings in contemporary literature in OECD countries.

Results: The Primary Care Provider (PCP) role varies from routine primary care to shared-rare-disease-care models. In the 26 papers, the most frequently cited PCP roles included involvement in diagnosis (n = 14), care coordination (n = 16), primary and preventative care (n = 18), management of components of rare-disease-care (n = 13), and treatment monitoring (n = 10). Individuals whose PCP was actively involved in their care were reported to have shortened diagnostic delay, improved transitions of care across the lifespan, reduced unplanned utilization of emergency and hospital services, comprehensive psychosocial care, improved quality of life across environments including home, school and work and improved palliative care experiences.

Conclusions: Sufficient communication from specialists, information, resources, time and reimbursement for complex care are still needed. Future integrated-rare-disease-care models should be developed by, or with, PCPs.

Keywords: continuity of patient care; delivery of care; family physicians; general practitioners; implementation science; integrated.

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Conflict of interest statement

Declaration of Conflicting InterestsThe author(s) declared the following potential conflicts of interest with respect to the research, authorship, and/or publication of this article: • Author BHR has been an investigator on projects that have received funding from the South-eastern Sydney Primary Health Network. • Author EEP sits on the Medical and Scientific Advisory Committee for Rare Voices Australia. • Author CWMT is a non-executive director, South Western Sydney Primary Health Network. • Other authors declare no conflicts.

Figures

Figure 1.
Figure 1.
PRISMA scoping literature review flowchart.
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