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

Key Characteristics, Components or Factors Related to Integrated-Rare-Disease-Models-of-Care, in Primary Care Settings

Descriptive characteristics of the studies are outlined in Supplement V: Descriptive Characteristics and Supplement VI: Study Characteristics: Disease, Context and Care Delivery. The study designs, aims and phenomena of interest are described in Supplement VII: Main characteristics of included studies.

Many included papers emphasized that coordination of services, including medical, clinical, and social and community services, are central to a multidisciplinary approach. In the 26 included papers, the most frequently cited components of care delivery by PCPs included: routine primary care management (n = 18), care coordination (n = 16), diagnosis (n = 14), management of components of rare-disease-care (n = 13) monitoring of rare disease treatment set by the specialist (n = 10).

Of all 1318 papers, 173 were concerned with transition of care from the pediatric to the adult health system, as a time where care coordination is particularly required. However, only 6 transition-related articles met all components of the eligibility criteria and were included. Components of care delivery in relation to PCP as described in the literature are defined in Table 1.

The roles of the PCP in how care is organized and delivered are summarized in Supplement VII: Models of Rare Disease Care. This supplement (VII) also groups enablers and barriers to active PCP involvement in rare-disease-care in each study mapped to the quadruple aim of health. Namely, patient outcomes, patient experience, provider experience and health system outcomes. ⁴⁰

PCP involvement in rare-disease-care is low in specialist-only rare-disease-care, where the PCP role focuses on providing primary care management.^41,42 Shared-care models include those where decisions are made in consultation with PCPs, who assume responsibility of chronic care that are feasible in the primary care setting in addition to providing primary and preventative care.^{31,43 -52} Papers investigating consultation length, encounter frequency and number of- and appropriateness of referrals, showed that PCPs are more actively involved in the care of PLWRD compared to general patient population, after controlling for patient characteristic (age, sex, insurance type, number of chronic diseases and whether they are an established or new patient) at the same practice, regardless of the model of care.^53,54

Outcomes of PCP Involvement in Rare-Disease-Care

Patient and provider level outcomes are both reported to be improved when PCPs have more active involvement in rare disease care.^{28,55 -57} Reported outcomes of PCP involvement are in Table 2.

Individuals whose PCP was actively involved in their rare disease diagnosis had a shortened diagnostic delay, as compared to individuals whose PCP was not actively involved in their rare disease diagnosis.^{31,43 -45,48,53,55,57 -60} Diagnosis within 12 months after first suspicion of a rare disease was reported to be as high as 75% with active PCP involvement. ⁵³ Specifically, PCP identification of signs and symptoms of potential rare disease, as enabled through long term patient-PCP relationships and early access to care, reduced diagnostic delays.^31,58,59 Byrne et al ⁵⁵ quantified the PCP as either diagnosing (19%) or playing a major role in diagnosis (19%) of all rare disease diagnoses in their study.

Coordinated care, with clear role delineation, reduced unplanned utilization of emergency and hospital services.^43,49,60 A key driver of these outcomes relate to the ethos of primary care: patient- and family-centered, sustainable, longitudinal, continuous, collaborative, coordinated, integrated, and with expertise in chronic disease management and dealing with uncertainty.^{28,31,41,43 -55,57 -59,61} Rather than a reflecting a deficit of PCP quality of patient care, uncoordinated transfer of care to primary care resulted in increased loss-to-follow-up and reduced patient experience. ⁵⁷

For a health system, PCP involvement results in more holistic delivery of care and improved population health outcomes, particularly in shared-care models and where high encounter frequency can alert the health system to a potential new rare disease diagnosis for an individual.^31,48,60 Despite encounter frequency and PCP time contribution being higher than average, there were overall decreased health expenditures.^31,53,54 For example, specialist-only care increased unnecessary acute system demand for patients with Cystic Fibrosis, in comparison to when PCPs were actively involved with guideline-based screening and routine primary and preventive care for patients with Cystic Fibrosis. ⁴³ Patients, carers and providers were all willing to pay for care coordination services in one study. ²⁸ Longitudinal coordination of the patient journey between services showed benefits to patients, providers and the health system as summarized in Table 2.

Dissatisfaction was reported by PLWRD, and self-reported by PCPs, related to the perceived lack of disease-specific knowledge by the PCP.^{31,41,45,46,50 -53} Improved specialist communication to PCPs, more multidisciplinary care and higher volumes of rare-disease-care may counter this.^{31,41,43,46,52,62}

In relation to the quintuple aim, there were insufficient data to warrant sub-group analysis related to equity for priority populations such as those from lower socio-economic groups, poor, aged, culturally and linguistically diverse and indigenous groups, those with decreased capacities and the otherwise marginalized. ⁶⁴

Enablers and Barriers to PCP Involvement in Rare-Disease-Care

Of the 26 papers, 20 sufficiently described implementation related information, categorized into barriers and enablers using the CFIR 2.0. ³⁴ These are summarized in Table 3.

Complex, fragmented health systems, uncoordinated transfer of care to primary care, poor change management and lack of specialist communication were barriers to active PCP involvement in rare-disease-care.^{41,43,45,46,52,57,62} One paper described 48% of PCPs reporting to have never or almost never received a treatment summary. ⁵¹ Structural communication options, including digital, are proposed. ²⁸ One study described direct transfer of care from pediatric to adult rheumatology, as compared to directing patients to contact their PCP if they developed joint symptoms, without information sharing to the PCP. This cohort were lost to follow up, and/or were reported to have poorer health outcomes. ⁵⁷ Delayed communication on medication changes and miscommunication between providers were reported.^46,52 Two models described providing PLWRD with information, but not their PCP.^41,50 This not sufficient for primary care contexts. Within primary care contexts, lack of rare disease information, lack of time and financial reimbursement for complex care provision were notable barriers.^41,51,52,62

The broad scope of practice associated with the PCP role enables the provision of holistic, family-centered, comprehensive, longitudinal rare-disease-care.^{43,46,47,49,51 -54,58} However, disease-specific knowledge is lacking.^{31,41,52,53,63} Shared-rare-disease-care-models were the most favorable to PCPs, in terms of their experience of providing care to PLWRD, as compared to PCP-only, or specialist-only-models. ⁴⁹ This addresses issues of fear of managing unknown conditions, lack of practical support for follow up, and overcoming long wait times for specialist care.^50,52

Outcomes of PCP Involvement in Rare-Disease-Care

Our study demonstrates that more active PCP involvement in integrated-rare-disease-care is beneficial to the health system, families, and providers. A robust primary care system improves health outcomes, efficiency, and equity. ¹⁸ The positive role of PCPs in rare-disease-care should be strengthened with appropriate communication and referral pathways with specialists.^41,46,50,52 Despite low prevalence of individual rare diseases, the level of PCP involvement in care is high, due to cumulative prevenance and disease complexity. Yet, real barriers to active PCP involvement exist. Such as the lack of rare-disease specific clinical guidelines, lack of referral pathways and insufficient reimbursement for the time needed to provide complex family-centered care. Comparatively, easily actionable barriers included lack of communication from specialists and information technology infrastructure for telemedicine. Communication can be improved through fostering links and relationships with hospital based specialists, ⁵² co-location, ⁴³ shared care plans,^28,43,48,51 sharing results, ⁴⁴ and/or a care-coordinator/navigator. ²⁸ The care-coordinator role, their scope of practice, frequency of contact, mode of communication, location require careful planning and co-design with PLWRD and PCPs. ²⁸

This review highlights that PCPs have a unique advantage in providing long-term health care, due to their considerable expertise in managing multi-system disease, broad scope of practice, bio-psycho-social approach and confidence in dealing with uncertainty.^{31,44 -49,51 -55,58 -60,65} Author de Vries posits that PCPs, as the health system gatekeeper, may create diagnostic delays, yet integrating the PCPs role in rare disease care is the most equitable and efficient way to structure a universally accessible health system that balances budget expenditure with patient and provider needs and experience.^40,46 Primary care models of rare disease care can significantly improve health system performance through holistic care delivery and simultaneous decrease health care expenditure. ³¹ This is unsurprising given primary care system’s role in coordinating local and regional networks, integrating care, addressing local population needs, providing preventive, holistic care and health promotion and education. ³¹

Insufficient data were available to undertake subgroup analysis in relation to equity. However, Morris et al ²⁸ provide hypothetical models of care which take rurality into account. Co-design of optimal integrated-rare-disease-models-of-care that support all priority populations should be an important avenue of future research.

Enablers and Barriers to PCP Involvement in Rare-Disease-Care

Traditional quality improvement approaches focus on increasing awareness and education on rare diseases.^15,21,66 Given there are more than 9000 individual rare diseases, it is unrealistic to focus on building the knowledge of PCPs on the intricacies of every specific condition.^29,47,48,66 This review highlights the need to focus on practical guidance and tools, appropriate reimbursement, access to specialist services and referral and communication pathways, rather than PCP knowledge alone in order to reap the benefits of the key role of PCPs in integrated-rare-disease-care.^41,46,50,52 PCPs provide comprehensive, coordinated, continuous, accessible and family-centered care to people across the lifespan. ⁶⁷ In addition to current primary health system governance, specific enablers for improved rare disease care such as sufficient time and reimbursement for complex care delivery, improved interface between PCP and specialist providers with greater access to disease-specific knowledge and information, clear role delineation and shared care models to support the PCP are needed.^{31,41,46,49 -55,57,59,60,62}

Integrated-rare-disease-care models in this review ranged from specialist-only to full shared-care models, with evidence supporting the overall superiority of shared-care models. Enablers for development of an integrated-rare-disease-model-of-care for primary care included role clarity, sufficient time and reimbursement for complex care, accessible and clear information, and a dedicated care coordinator.^{28,44,49 -52,59} Enablers for implementation of integrated-rare-disease-care include: national rare disease strategies, technical enablers for improved communication with specialists, adequate reimbursement for time and availability of a time-limited care coordinator.

Our review supports the critical need to include PCP perspectives in the design of an integrated-rare-disease-model-of-care. Additionally, future models of care should explore distinctions between provider and patient preferences. In this scoping review, providers reported a preference for all care to be coordinated by the Care Coordinator, whereas families preferred to coordinate their own care but for the Care Coordinator to play a supportive role, when required. ²⁸

Strengths and Limitations

Rare disease advocacy groups are often charities without the funds to publish academic literature but raise valuable input for models of care design related to this population group. Grey literature search was attempted, yet none were found to sufficiently relate to family practice settings for inclusion in this review. To identify as many studies as possible, we conducted a comprehensive search inclusive of all primary health care settings, later refining to family practice or equivalent. Despite our inclusive strategy, we are unlikely to have captured every relevant paper.

A limitation of applying the CFIR 2.0 to understand pre-implementation for an integrated-rare-disease-model-of-care in primary care is that the CFIR 2.0 does not make consideration of patient characteristics, preferences, capacity, and capability. This is an important element in the care of PLWRD. Morris et al’s ²⁸ hypothetical models of care have considered family perspectives.