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Abstract

Background:

Rare diseases are often complex, multisystem disorders requiring specialized, lifelong care. These diseases share significant challenges in healthcare delivery, including diagnostic delays, limited access to specialists, and lack of effective treatments.

Objectives:

To aggregate and critically examine innovative health services interventions for rare diseases, with the goal of identifying potentially scalable strategies to improve care.

Eligibility criteria:

Peer-reviewed original research published in English reporting results of interventions to improve guideline-concordant care, care coordination, and care transitions in rare disease populations. Using Covidence software, two researchers independently screened all texts against preestablished inclusion and exclusion criteria, with conflicts resolved through consensus discussion with a third researcher.

Sources of evidence:

Comprehensive searches were conducted in April 2022 in Ovid MEDLINE, Embase.com, Web of Science Core Collection, Cochrane Central Register of Controlled Trials (CENTRAL), and ClinicalTrials.gov.

Charting methods:

Two researchers independently extracted study characteristics and results from eligible full texts using Covidence software, with any conflicts resolved through consensus discussion with a third researcher.

Results:

Our search identified 2899 articles. After screening for eligibility criteria, 12 articles describing health services interventions in rare diseases were identified. Most studies were conducted in Europe and involved adult participants. Three main intervention targets were identified: (1) increasing patients’ access to multidisciplinary expertise (e.g. using expert panels/tumor boards, integrating additional disciplines into care teams, and creating a hotline for specialist advice); (2) using technology to give point-of-care physicians access to information (e.g. electronic medical record templates/decision-support); and (3) standardizing care through clinical care pathways.

Conclusion:

This review identified several efficacious interventions to improve healthcare delivery for individuals with a single rare disease. Testing these strategies across broader groups of rare disease patients could more efficiently improve healthcare delivery for the rare disease community, facilitating patients’ timely access to treatments, improving their health outcomes, and potentially reducing healthcare costs with economies of scale.

Plain language summary

An analysis of existing interventions to improve the quality of healthcare for patients with rare diseases

Why was this study done? While each rare disease is unique and affects only a small number of individuals, the rare disease community as a whole faces similar challenges in seeking healthcare. These challenges include delayed diagnosis, limited access to specialists, and insufficient treatment options. This study seeks to find common strategies to enhance healthcare delivery for rare diseases.

What did the researchers do? We reviewed public reports of research that aimed to improve guideline-specific care, care coordination, or care transitions for people with rare diseases. At least two researchers screened each paper to assess whether it met inclusion and exclusion criteria, and all conflicts were resolved by consensus discussion.

What did we find? After searching 2899 articles, we found 12 describing successful interventions for people with rare diseases. These interventions either 1) increased patients’ access to multidisciplinary expertise (through things like expert review panels, integrating pharmacists into the care team, or creating a specialist hotline); 2) used technology to facilitate physicians access to rare disease information (through things like electronic medical record templates and alerts); or 3) standardize care delivery through creating set clinical pathways.

What do these findings mean? These results highlight how efforts to improve access to multidisciplinary experts, implement new technology, and standardize care for rare disease could be used to develop impactful healthcare interventions that are transferable across multiple rare diseases.

Keywords

health services research implementation science rare diseases rare disorders scoping review

Introduction

Rare diseases are defined differently by region: in the United States as diseases affecting fewer than 200,000 Americans, and in the European Union as diseases affecting no more than 1 out of 2000 people. These diseases are often complex, multisystem disorders requiring lifelong, specialized healthcare and support.^1,2 There are between 5000 and 8000 distinct rare diseases, affecting 6–8% of the EU population and about 400 million people globallyl.³ Taken together, these diseases cause significant morbidity and mortality, negatively impact quality of life, and can confer a tremendous social and economic burdens on families and communities.⁴

In recent years, there have been many therapeutic advances to improve the health of patients living with rare conditions. Due to the demographic and symptomatic heterogeneity of rare diseases, these advances have often only been studied in individual diseases or closely related groups of diseases.⁵ But rare diseases also share many common health challenges, such as delays in diagnosis, limited access to specialists, and experience of societal stigma.⁶ Developing healthcare delivery interventions that address common challenges across multiple rare diseases could amplify the impact of rare disease research. This would optimize the often limited resources within rare disease communities. Additionally, it would foster a more inclusive and comprehensive approach to rare disease care.

However, the body of literature on rare diseases is often dispersed across specialty- or disease-specific journals, making it difficult to generalize novel health services intervention methods across a range of rare diseases to improve patient health outcomes. For this reason, we undertook a scoping review to systematically search for and analyze healthcare delivery interventions used to improve care for rare diseases, with the goal of revealing promising strategies that could potentially be adapted to address a wider spectrum of rare diseases. We focused our review on three common challenges to providing care for rare diseases: care coordination, care transitions, and receiving guideline-concordant care (or when formal guidelines are lacking, care according to expert-recommended best practices).

Care coordination is especially challenging for rare disease patients due to their need for specialized care across multiple providers and settings.^7,8 Individuals with rare diseases and their family members report often having to relay information between various health professionals, attend numerous health appointments at different locations, and encounter inadequate communication and health data sharing among healthcare providers.⁹ Furthermore, as more children and adolescents survive into adulthood, a related challenge arises involving transitioning from pediatric to adult clinics, and coordinating the exchange of information between these providers.^10,11 As rare disease patients transition from parent-supervised pediatric care to more independent adult models, they may face challenges taking over their complex care. For example, some patients struggle with the work involved in transferring medical records and a lack of trust in adult providers.¹² Transitions of care between inpatient and outpatient settings may also be required as the disease progresses between stages or requires the involvement of different specialists.

Finally, many patients with rare disease have difficulty accessing specialists with adequate knowledge of their rare disease.¹³ While there is extensive literature on best practices and clinical guidelines for common diseases, recommendations targeted at rare diseases remain relatively sparse and may be hard for frontline clinicians to access and act on amid the pressures of increasingly short healthcare visits. However, interventions to facilitate access to information on clinical best practices could help local care teams treat these complex and unfamiliar issues specific to rare diseases.¹⁴ Based on the potential for cross-disorder health services interventions to remedy these common challenges in quality of care, we undertook the following scoping review to locate promising interventions for patients with rare diseases, analyze common intervention mechanisms, and discuss the potential for interventions to be translated to other rare diseases.

Methods

After refining our objective above, we designed a scoping review protocol following the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) Extension for Scoping Reviews Guidelines, although the protocol was not preregistered.¹⁵ Standard systematic reviews are typically designed to analyze a narrow range of studies, where relevant study designs can often be identified in advance.¹⁶ However, because we wanted to include a variety of populations, interventions, and study designs, a scoping review was deemed most appropriate. Scoping reviews also have the ability to identify possible gaps in the evidence base.¹⁶ It is important to note that as a scoping review, our primary aim was to map the body of peer-reviewed literature reporting health services interventions for rare diseases, rather than to evaluate the effectiveness of each intervention or conduct any critical appraisal of the study findings.¹⁷ We then refined our research question to focus on three major issues that affect access to and/or quality of treatment for rare disease: guideline-concordant/expert-recommended care, care coordination, and care transitions. From these common challenges, we aimed to systematically identify health services interventions innovating new processes of care that could potentially apply across multiple diseases, and excluded medical, surgical, or psychological interventions focused narrowly on biologic outcomes specific to unique rare disease processes.

Identifying relevant studies (literature search)

Electronic searches for published literature were conducted by a medical librarian in April 2022 using Ovid MEDLINE (1946 to present), Embase.com (1947 to present), Web of Science Core Collection (1900 to present), Cochrane Central Register of Controlled Trials (CENTRAL) via Ovid (1991 to present), and ClinicalTrials.gov (1999 to present). The search strategy was designed by an experienced research librarian (ML) and incorporated controlled vocabulary and free-text synonyms for the concepts of rare diseases, care coordination, care transitions, and guideline-concordant care. The full database search strategies are documented in Supplemental Appendix A. The search strategy for coordinated care was adapted from a previous search by McDonald et al.⁷ No restrictions on language or any other search filters were applied. All identified studies were combined and de-duplicated in a single reference manager (EndNote). The citations were then uploaded into Covidence review software for screening.¹⁸

Study selection

Two researchers screened the titles and abstracts of retrieved records to determine if the papers potentially met the study’s inclusion and exclusion criteria. We included publications if they: (1) studied a disease that is rare within the studied country (i.e. affected less than 200,000 Americans if conducted in the United States or had a prevalence less than 1 in 2000 in all other countries); (2) studied a health services research intervention or policy that aimed to improve guideline-concordant/expert-recommended care, care transitions (including patient navigation), and/or care coordination (including integrated care); (3) was an original research article or a clinical trial with published results; and (4) was published in the English language. We excluded articles if they: (1) studied medical, surgical, psychological, or lifestyle interventions (rather than healthcare delivery interventions); (2) focused solely on creation of disease-specific guidelines, creation of patient registries, or diagnosis of individuals with rare diseases (rather than their ongoing care/treatment); (3) were individual case reports, conference abstracts, editorials, or commentaries. All conflicts between the two researchers were discussed as a group with the senior researcher and resolved by consensus. All potentially eligible manuscripts from this stage were retrieved and advanced to full-text screening, which followed an identical process of review against inclusion/exclusion criteria by two independent researchers with conflicts resolved during consensus discussion with the senior researcher.

Data extraction and analysis

Two researchers independently extracted data from eligible full texts using a standardized template within Covidence. Any conflicts were reviewed and adjudicated by a third researcher. Papers were descriptively summarized by extracting the following study characteristics: study location and timing, study aim, study design, participant demographics, description of interventions, study outcome measures, and study results. Study results are reported to describe the range of outcome measures and magnitude of effects shown in published literature, and should not be considered an assessment of the methodological rigor or strength of evidence of reported findings. After data was extracted, the research team reviewed included interventions to inductively create themes describing common intervention strategies.

Results

The search strategy and study selection process are outlined in Figure 1. Of 2899 records screened based on title and abstract, 80 full-text articles were assessed for eligibility and 12 articles were included in the final review. A majority of the studies included sites in Europe (n = 8); studies also included sites in the United States (n = 6), Asia (n = 1), and Africa (n = 1). Included studies assessed a wide variety of rare diseases, including sarcomas (2), blood disorders (4), lung conditions (2), autoimmune or inherited disorders (2), brain disorders (2), and cardiac disorders (1). Only one included article described a randomized controlled trial; the remaining studies included seven prospective observational studies and five retrospective studies. A majority of studies included only adults (5) or both adults and children (4); two included only pediatric populations and one did not specify demographics of the study population. Seven studies focused on guideline-concordant care, six studies focused on care coordination, and two focused on care transitions (more than one focus was present in two studies). Additional details of the included studies are summarized in Table 1.

Figure 1.

PRISMA flow diagram.

Table 1.

Characteristics of included studies.

Report	Rare disease	Study population^a	Description of intervention	Study outcome measures/results^b
Blay et al. (2017)	Soft tissue and visceral sarcomas	N = 12,528 Age_median = 61 (range 18–101) 50.4% Female	Presenting patients to a specialized MDTB before their initial treatment, with patient outcomes updated in a database.	Presentation to an MDTB before treatment was associated with better compliance to clinical best practices, for example, rates of biopsy before surgery, adequacy of imaging, quality of initial surgical resection, and fewer reoperations (all p < 0.001). Relapse-free survival was significantly better in patients presented to an MDTB before initiation of treatment, in both univariate and multivariate analyses.
Borie et al. (2019)	ILD	N = 95 Age_median = 43 (range, 0–77) 44% Female	ILD patients with potential genetic origins are referred by their ILD physician for review by the expert GeneMDD panel who offer diagnostic recommendations and treatment strategies.	In addition to diagnostic recommendations, a therapeutic strategy was offered to all (100%) of living patients. Among all 64 patients for whom the geneMDD proposed medication, 63 (93%) eventually received it.
Croteau et al. (2016)	Hemophilia	N = 60 Age_median = 15 (range 1–22) 3% Female	At a tertiary pediatric center, a quality improvement intervention evaluated and enhanced the transition process for patients with bleeding disorders. The HEMO milestones, offering age-specific steps, were introduced for systematic assessment from infancy to young adulthood during comprehensive clinic visits.	Percentage of patients with documented hemophilia knowledge/skill assessment initially increased from 21% to 100% and was sustained at 97%. Percentage of patients with a documented skill building plan initially increased from 55% to 80% and was further improved to 93%.
Han et al. (2016)	Sickle cell disease	N = 424 Age_median = 33 (range 25–45) 60% Female	In the Sickle Cell Outpatient Center, a new pharmacy service was developed where a clinical pharmacist interacted with patients for ~20 min, either before or alongside physicians, addressing drug therapy monitoring, patient education, health counseling, and opioid usage evaluations. The pharmacist had the authority to refill noncontrolled prescriptions, order vaccines, and made follow-up calls for medication adjustments post-lab reviews.	The number of pharmacist encounters was associated with (1) improved hydroxyurea dose escalation rate (OR 1.48, 95% CI 1.07–2.05, p = 0.02); (2) improved immunization completion rates for influenza, PCV13, and PPSV23 (OR 1.38, 95% CI 1.17–1.62, p < 0.001); and (3) improved screening for microalbuminuria (OR 2.14, 95% CI 1.60–2.86, p < 0.001) and sickle cell retinopathy (OR 1.16, 95% CI 1.00–1.35, p = 0.05). The number of pharmacist encounters was not significantly associated with screening for pulmonary hypertension (p = 0.78).
Javaud et al. (2018)	Hereditary angioedema	N = 200 Age_mean = 41 (intervention group) and 43 (control group) 66% female (intervention group); 60% female (control group)	A dedicated national telephone care-management strategy to reduce resource use during severe angioedema attacks. A national call center was established to provide patients with free, around the clock, phone access to specialist physician advice during a severe attack of hereditary angioedema.	Mean number of hospital admissions for angioedema attacks per patient in the 2-year period was significantly greater in the usual-practice group (mean 0.16) compared to the intervention group (mean 0.03), risk difference: −0.13 (95% CI −0.22 to −0.04; p = 0.02). For other secondary health outcomes (number of hospital admissions for other causes, ICU admissions per year, number of emergency department visits, number of intubations, number of interventions by emergency medical services, mortality from angioedema attacks, and number of attacks), there was no statistically significant difference between the intervention and control groups.
Kovacikova et al. (2017)	Rare congenital heart defects and other complex cardiac disorders	N = 63 Age_median = 4.3 (range 0–30)	Monthly, multidisciplinary case conferences conducted remotely via videoconferencing. Conferences include presentations of two to three local complex cases, consultation from subspecialty experts on diagnostic/therapeutic approach, and review of didactics/care guidelines/literature as needed.	Specialists from the expert center suggested adjustments to the original care plan in 52% of cases. The receiving institution fully accepted changes in 79% of cases, partially accepted changes in 13% of cases, and continued the original plan in 8% of cases.
Kreyer et al. (2018)	Ewing sarcoma	N = 481 Age_median = 16.5 (range 0–69.3) 39.5% Female	A weekly ITB that discusses patients upon request from the caring physician or the patient/legal guardian, and reviews patients’ medical history and imaging to determine treatment recommendations.	A significantly better overall survival was observed in patients with metastatic disease who had been discussed in the ITB and had followed recommendations, compared with patients with metastatic disease who had not been discussed at the ITB (p = 0.028). However, in patients with localized disease, a recommendation from the ITB had no influence on overall survival.
Mainous et al. (2018)	Sickle cell disease	N = 71 Age_median = N/A (range 18–45+)	The clinical decision support tool consisted of a best-practice alert that appeared when the electronic health record was opened and provider education (presentations to faculty and clinic staff about transfusional iron overload). The alert prompted providers to ask patients if they had a red blood cell transfusion in the past year, and if so to consider ordering a ferritin level. It also displayed the five most recent ferritin levels and dates, as well as buttons to Order/Do Not Order a ferritin test.	There was a significant increase in the proportion of sickle cell disease patients with an order placed for a ferritin test to assess transfusional iron overload in the intervention group (0–44%) and no change in the proportion of patients with a ferritin test ordered in the control group (0–0%.)
Santoro et al. (2021)	Infantile spasms	N = 17 Age_median = N/A 29% Female	An electronic medical record template can be generated by any physician computer user and populated directly into a patient note. The wording generates an assessment and plan in flow sheet format in accordance with the institution’s best practices for the evaluation and management of infantile spasms.	Patients who received template-based care had statistically significantly fewer delays in treatment plan (p = 0.01), delays in obtaining neurodiagnostic studies (p = 0.01), and repeat diagnostic studies needed (p = 0.04). There were no statistically significant differences in delays in medication administration (p = 0.10, and delay in discharge (p = 0.39) between the two groups. Among 16 resident physicians who used the template, 100% reported the template improved treatment plan comprehension and medication ordering accuracy.
Slocum et al. (2019)	Hemophilia	Data regarding the study population was not reported	The Hemophilia Management Program utilized pharmacists to provide interdisciplinary education, clinical management and continuity of care, and formulary management for hemophilia management. This included developing and distributing educational content to hospital providers and staff, daily assessment of hemophilia patients and attendance at weekly pounds with the hemophilia treatment team, assisting with transitions into and out of inpatient care, and formulary management of factor products.	Consistent reduction in clotting factor utilization, due primarily to reduction of clotting factor dose per patient, resulting in net savings of $2.7 million for clotting factor expenses without major changes to average length of stay. The program also reduced the need for blood transfusions from 878 to 761 per fiscal year.
Turnbull et al. (2021)	TB	N = 424 Age_median = 7.5 and 8 (pre- and post-interventions) (range 0.19−16) 33% Female	Weekly, virtual MDT discussion between district pediatricians and a tertiary TB team to determine plans for patient diagnosis, management, and follow-up and share this plan with the referring team within 48 h.	Time to treatment was reduced from a median of 18–13 days after the MDT was established. The proportion of patients who presented with symptoms went from 76% to 55%; the percentage of patients completing treatment with 1 year increased from 94% to 100% and those offered HIV tests increased from 85% to 100%.
Wind et al. (2021)	SLE/APS	N = 78 Age_median = 30–33 100% Female	A clinical pathway for evaluation and prepregnancy counseling of patients with SLE/APS who desired to become pregnant. Every 2 weeks, all enrolled patients, before and during pregnancy, were discussed in a multidisciplinary team meeting.	Primary outcome of disease-related events (disease flares for patients with SLE and thromboembolic events for patients with APS) was significantly reduced in the pathway cohort compared to a historical cohort (7% versus 28%), mainly determined by a significant reduction in SLE flares. Secondary maternal outcomes (miscarriages, gestational hypertension, severe hypertensive disease, eclampsia, and HELLP syndrome) and fetal outcomes (perinatal death, congenital heart block, and preterm birth) were not significantly different.

All ages reported in years, and all studies assessed gender as male/female only.

Additional study outcomes related to diagnosis or clinical care not included in table.

APS, antiphospholipid syndrome; CI, confidence interval; HELLP syndrome, Hemolysis, Elevated Liver enzymes and Low Platelets syndrome; ILD, interstitial lung disease; ITB, interdisciplinary tumor board; MDT, multidisciplinary team; MDTB, multidisciplinary tumor board; OR, odds ratio; SLE, systemic lupus erythematosus; TB, tuberculosis.

Theme 1: Increasing access to multidisciplinary experts

Five studies assessed the impact of multidisciplinary expert panels to review diagnosis and treatment recommendations.^20–24 These expert panels, which could be held in-person or virtually, helped experts from multiple disciplines and institutions come together to review patient cases and coordinate patient management plans. These expert panels often recommended therapeutic strategies for patients, which many times involved adjustments to the local care team’s original plans.^20,21 These recommendations could increase compliance with clinical best practices,²⁴ as well as identify patients requiring treatment earlier in the disease process, reduce the time to receive treatment once identified, and increase the number of patients completing treatment.²³ Expert boards were found to improve relapse-free survival in patients with soft tissue and visceral sarcomas and overall survival in patients with metastatic Ewing’s sarcoma patients, but did not improve overall survival in patients with localized Ewing sarcoma.

Two studies assessed the implementation of clinical pharmacy services in the management of patients. One engaged pharmacists in managing sickle cell disease through in-person services such as drug monitoring, patient education, and health counseling.²⁵ They handled prescription refills, vaccine orders, and follow-up calls for medication adjustments based on lab results. The program noted improved outcomes in hydroxyurea dose escalation, immunization completion rates, and screenings for microalbuminuria and sickle cell retinopathy due to increased pharmacist interactions. Similarly, another study involved pharmacists in hemophilia management, encompassing interdisciplinary education, clinical oversight, and continuity of care.²⁶ Pharmacists developed educational materials, assessed patients daily, and participated in weekly team rounds, aiding in devising drug therapies, and patient transitions. The program efficiently reduced clotting factor use and costs by $2.7 million, without major changes to the average length of stay.

One study took a slightly different approach that was more directly targeted toward patient access to a specialist by implementing a new national level hotline. It introduced the SOS-hereditary angioedema intervention, which is a call center offering 24/7 access to specialized advice for patients.²⁷ The call center was staffed by emergency physicians trained in hereditary angioedema management. The ending result was a decrease in hospital admissions for hereditary angioedema attacks. This study offers perspective and lays a foundation for other rare diseases studies in the sense that it suggests that call centers may be effective, depending on the rare diseases, in mitigating patient risk and reducing healthcare costs while still improving patient outcomes.

Theme 2: Leveraging technology to provide information to clinicians at point of care

Two studies evaluated the use of electronic medical record templates/decision-support tools to improve the quality of care for patients. One introduced an electronic medical record template accessible to physicians for direct inclusion in patient notes.²⁸ This template, aligned with institutional best practices, streamlined the evaluation and management of infantile spasms, reducing treatment and diagnostic delays and repetitions. All 16 residents using the template reported full comprehension of the treatment plan and accurate medication ordering. Another study implemented a clinical decision support intervention to enhance adult sickle cell disease care.²⁹ The tool, activated upon opening a patient’s electronic health record, prompted providers to inquire about recent red blood cell transfusions and consider ordering a ferritin level test, displaying the latest five ferritin level results. Its introduction led to an increased proportion of ferritin test orders in the intervention group, with no change observed in the control group.

Theme 3: Standardizing rare disease care

Two studies utilized clinical pathway standardizing evaluations regarding patient counseling, treatment, and care transitions. One study involved a structured care pathway for individuals with systemic lupus erythematosus (SLE) or antiphospholipid syndrome (APS) who wanted to become or were pregnant.³⁰ The pathway led to a reduction in disease events, defined as disease flares for patients with SLE and thromboembolic events for patients with APS, when compared to a historical cohort. Overall, this study emphasized that the structured clinical pathway with prepregnancy counseling can improve pregnancy outcomes for patients with SLE/APS. Another study implemented a quality improvement initiative for care transitions for patients with rare bleeding disorders such as hemophilia.³¹ By implementing and documenting a longitudinal transition process, specifically the HEMO-Milestones tool, patient knowledge and skills related to hemophilia could be assessed and improved. Overall, both studies introduced a clinical pathway to facilitate patients transitions through life milestones, utilizing the expertise of multidisciplinary teams. Both studies also consider the significance of documenting patient progress and measuring milestone achievement for quality improvement.

Discussion

The objective of this scoping review was to identify health services interventions that were aimed at increasing rare disease patients’ quality of care by improving care coordination, care transitions, and adherence to care guidelines and best practices. Despite the high unmet need to improve healthcare delivery for individuals with rare disease, only 12 full-text, peer-reviewed studies with published results were identified using our search terms focused on rare diseases generally. However, we were still able to identify common intervention techniques across studies with high potential to improve care across rare diseases more broadly.

Across interventions, we recognized three main trends that contributed to more efficient healthcare delivery. First, research frequently aims to improve patient access to specialists and to involve team members with the necessary knowledge to elevate the quality of care. This addresses a primary challenge in rare disease treatment: the scarcity of specialists equipped with the training and understanding required for these complex conditions.³² Telehealth solutions and call centers, which are increasingly trialed in interventional studies, tend to reduce geographical barriers and quickly increase access to medical expertise. Research conducted in several countries has highlighted the need for enhanced training for health professionals to ensure effective communication of information.³³

The second trend in retrieved articles was providing point-of-care or attending physicians with integrated technology, such as electronic medical records. This was vital for advancing the care they delivered. The second trend addresses the critical need for the integration and utilization of technology, which is essential for enhancing diagnostic accuracy and treatment efficacy in the realm of rare diseases.³⁴ Now more than ever, with the boom in AI, research points toward a path to speed up rare disease diagnoses as well as create decision support systems. The advancement of technology has and will continue to make a substantial positive impact on the lives of patients with rare diseases when implemented in an ethical manner. Patients with rare diseases deserve not only quality care but also rapid care—technology can speed up the process of creating personalized treatment plans after expert consultations.³⁵

The third trend across studies was the need to standardize care practices to minimize variations in treatment quality, ensuring all care meets the highest standards. This trend underscores the significance of establishing standardized care protocols, particularly vital in a field where consistency, structured approaches, and comprehensive disease knowledge are often lacking.³⁶ The highlighted intervention trends emphasize the challenges patients with rare diseases face in accessing specialized expertise and receiving appropriate care. Moreover, the studies emphasized that the quality of life for children and adults with rare diseases must also be improved through standardization of care. By reducing variation across rare diseases, patients will consistently receive evidence-based treatments. This will require boosting coordination of care among healthcare providers. Overall, standardization ensures that the correct treatments are given based on recommendations from experts in their respective fields.³⁷

The findings of common themes underlying multiple, successful rare disease health services interventions identified in this scoping review suggest a high likelihood of the transferability and scalability of these intervention approaches. However, our study does have several limitations. The primary limitation is that we employed “rare disease” as a key term for feasibility purposes rather than compiling a list of individual rare diseases. This may have resulted in the omission of some studies that did not explicitly mention that they were addressing a “rare disease” or relevant synonym. However, since our review aim was to identify interventions that could potentially be translated across rare diseases, we expect the most relevant papers would include these terms. It is also important to note that not all interventions identified in this study may be appropriate to translate across all rare diseases, as these diseases vary in symptomatology and severity. As a scoping rather than a systematic review, it was beyond the scope of the current study to evaluate the strength of evidence and risk of bias within each included study. As the included studies ranged in design from randomized controlled trial to retrospective reviews, the evidence supporting the efficacy of identified interventions is varied, and further research is needed to demonstrate the utility of replicating any individual intervention. Most studies were conducted in Western, high-income countries, so their findings may not generalize to multiethnic populations. Our inclusion of only English-language papers could have unintentionally excluded papers from other countries, including lower resource settings that may require other intervention methodologies. Lastly, new interventions being developed by patient advocacy organizations and other nonacademic authors may not be published in peer-reviewed journals, leading to a limited understanding of the full spectrum of interventions trialed in rare diseases and their outcomes.

Conclusion

Despite these limitations, this was a rigorous review of health services interventions for rare diseases that identified several interventions that could potentially be spread to other rare disease contexts. Future research should prioritize collaborations with patient advocacy groups to understand the impact and benefits of the identified interventions and to identify additional strategies to improve care coordination, care transitions, and receipt of guideline-concordant/expert-recommended care.³⁸ This review, while likely not exhaustive of every rare disease health services intervention, still underscores the significance and need for more research focused on addressing common barriers to rare disease care. Collaborative research to improve healthcare delivery systems is imperative to increase rare disease patients’ access to high-quality care and new therapeutic advances. While all studies identified in this scoping review studied a single rare disease or a group of closely related diseases, designing studies that encompass individuals with a variety of rare diseases may offer a more effective strategy for identifying broadly applicable solutions across diverse patient demographics.³⁹ Adopting this cross-disorder approach to healthcare delivery innovation could enable transformative advancements in the care and treatment of the rare disease community as a whole.

Supplemental Material

sj-docx-1-trd-10.1177_26330040241262810 – Supplemental material for Health services interventions to improve the quality of care in rare disease: a scoping review

Supplemental material, sj-docx-1-trd-10.1177_26330040241262810 for Health services interventions to improve the quality of care in rare disease: a scoping review by Cody Chou, Sydney O. Wiredu, Liesel Von Imhof, Anran Tan, Sasha Agarwal, Melis Lydston and Vanessa L. Merker in Therapeutic Advances in Rare Disease

Supplemental Material

sj-pdf-2-trd-10.1177_26330040241262810 – Supplemental material for Health services interventions to improve the quality of care in rare disease: a scoping review

Supplemental material, sj-pdf-2-trd-10.1177_26330040241262810 for Health services interventions to improve the quality of care in rare disease: a scoping review by Cody Chou, Sydney O. Wiredu, Liesel Von Imhof, Anran Tan, Sasha Agarwal, Melis Lydston and Vanessa L. Merker in Therapeutic Advances in Rare Disease

Footnotes

Acknowledgements

None.

Declarations

ORCID iDs

Cody Chou

Vanessa L. Merker

Supplemental material

Supplemental material for this article is available online.

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