Jul 2026· Research, Society and Development· Vol 15, pp. e8215751452· 0 citations· 21 references
TL;DR
The synthesis identified six interdependent domains through which Field Medical can create scientific and system-level value: Scientific Mastery, Insight Intelligence, Center Development, System Navigation, Strategic Partnership, and Impact Measurement.
Abstract
Rare diseases create distinctive challenges for scientific communication and health-system organization because of small patient populations, heterogeneous phenotypes, limited natural history data, fragmented referral pathways, and persistent diagnostic delays. This narrative review aimed to synthesize the literature on Medical Science Liaison (MSL) practice and rare-disease ecosystems and to propose a pragmatic framework for Field Medical excellence. A targeted search of PubMed and publicly available professional guidance repositories was conducted through July 2026 using terms related to Medical Affairs, MSL competencies, rare diseases, diagnostic delay, real-world evidence, center development, scientific insights, and impact measurement. Sources were selected for conceptual relevance rather than exhaustive coverage. The synthesis identified six interdependent domains through which Field Medical can create scientific and system-level value: Scientific Mastery, Insight Intelligence, Center Development, System Navigation, Strategic Partnership, and Impact Measurement. The framework emphasizes scientific independence, contextual interpretation of uncertain evidence, longitudinal stakeholder engagement, translation of field insights into action, and evaluation through outcome-oriented indicators rather than activity counts alone. It is intended as an organizing model, not as a validated competency instrument. Future studies should test its content validity, feasibility, and association with measurable improvements in diagnostic readiness, research feasibility, stakeholder capability, and patient-centered care pathways.
Rare diseases affect millions globally but remain poorly understood due to low prevalence and fragmented healthcare responses. Patients face long diagnostic delays, known as the “diagnostic odyssey”, due to limited knowledge and awareness among healthcare professionals. This scoping review examines healthcare professionals’ knowledge and awareness of rare diseases. Findings highlight critical educational and systemic gaps across disciplines. Addressing these deficits is essential to improve early recognition, care coordination, and health outcomes for rare disease populations.
This scoping review followed Arksey and O’Malley’s five-stage framework, enhanced by the Joanna Briggs Institute (JBI) methodology and PRISMA-ScR guidelines. The review mapped existing literature guided by the PCC framework. A comprehensive search strategy was developed and executed across four databases, CINAHL, Medline, PubMed, and Scopus, along with grey literature sources. After removing duplicates, 4539 records were screened, and 25 studies met the inclusion criteria. Data was charted and synthesised thematically using an inductive approach to identify key findings and gaps in professional education and awareness.
Twenty-five studies from 2015 to 2025 were included, spanning diverse countries and healthcare professions. Most used cross-sectional surveys to assess knowledge, awareness, and confidence regarding rare diseases. Overall, healthcare professionals demonstrated limited knowledge, poor familiarity with rare disease definitions, and low use of specialist resources. Variability was observed across professional groups, with general practitioners and nurses demonstrating lower knowledge than specialists. Education and training were widely reported as insufficient, with gaps evident across both undergraduate and clinical settings. Despite low objective knowledge, many participants overestimated their competence. These knowledge gaps were associated with challenges in diagnosis and management, including delayed recognition of rare diseases. A strong demand for improved rare disease education and accessible guidelines was consistently expressed.
Despite growing recognition of rare diseases as a public health priority, healthcare systems worldwide lack structured education, standardised guidelines, and accessible resources. The review calls for further research, urgent educational reform, improved digital resources, and targeted policy changes to integrate rare disease education into healthcare curricula and enhance clinical support. Addressing these gaps will improve care, facilitate earlier diagnoses, and ensure more equitable outcomes for rare disease patients.
Stacey McGeown, Paul F. Slater, Felicity Hasson· Orphanet Journal of Rare Dis...· 0 citations
A conceptual Clinical Co-pilot Framework is proposed to position GenAI as a collaborative partner that supports clinicians rather than replaces them, which provides a conceptual basis for future empirical validation and may help inform the responsible implementation of GenAI in healthcare.
Lina Cheng, Chia-Yu Hung, Te-Nien Chien· International Journal of Adv...· 0 citations
Rare diseases collectively affect approximately 6% of the global population, yet 95% of affected individuals lack access to effective treatments. Beyond this persistent therapeutic gap, patients and caregivers face a broad spectrum of unmet needs, spanning psychosocial challenges, access to reliable diagnostic information, care coordination, and long-term follow-up, which remain poorly characterised in both clinical and policy contexts. Three interrelated challenges underpin this problem. First, validated instruments capable of systematically capturing unmet needs across diverse patient groups, including adults, minors, and caregivers, are largely absent. Second, even when patient data are collected, they are rarely integrated into clinical trial design, regulatory evaluation, or reimbursement deliberations in a structured and reproducible manner. Third, the responsible governance of rare disease data, particularly across institutional and national boundaries, faces unresolved ethical, legal, and organisational barriers. This perspective paper outlines the conceptual foundations of the INFORM-RD research project (a patient-informed clinical platform to inform patient-centred decision-making for rare diseases), embedded at KU Leuven, Leuven Institute for Rare Diseases and University Hospitals Leuven, Belgium. Drawing on the KCE NEED framework and leveraging a cohort of over 30,000 people with rare diseases, INFORM-RD aims to: 1) develop and validate a scalable methodology for unmet need data collection, 2) translate these data into actionable decision-support tools for clinicians, regulators, and payers, and 3) establish an ethical and legal governance architecture enabling responsible and scalable data sharing at national and international levels. By positioning patients, including underrepresented groups such as children and persons with cognitive limitations, as co-creators throughout the research process, INFORM-RD offers a transferable blueprint for need-driven rare disease care across Europe.
Unknown authors· Therapeutic Advances in Rare...· 0 citations
Summary There are over 10,000 rare diseases collectively affecting an estimated 250–450 million people globally. While these diseases are rare individually, their cumulative impact on patients, families, healthcare systems, and society is substantial. The incorporation of clinical outcome assessments (COAs) in clinical trials can facilitate patient-focused drug development and treatment evaluation by generating meaningful evidence on how patients feel and function. This work was conducted in three phases: a targeted literature review (searched Aug 2025; updated Feb 2026), a multistakeholder workshop (online, Sept 2025) and, finally, an online survey to ratify final recommendations (responses by March 3, 2026). Of 43 individuals invited, 35 (81%) attended the virtual workshop: 11 researchers (including clinical trialists); 12 patients/caregivers; seven industry experts; four individuals from regulatory agencies and one HTA expert. All were based in the UK or USA. Across three sessions, the workshop explored stakeholder perspectives on considerations and appropriate methodological approaches to COA assessment for rare disease drug development to facilitate the generation of recommendations for future use. A threshold of at least 70% votes was chosen, a priori, for inclusion in the final set of recommendations. Here, we describe the potential benefits of COAs, summarise the key challenges, and provide recommendations to facilitate their effective and consistent integration in drug development for rare diseases.
O. Aiyegbusi, N. Mccorry, M. Calvert et al.· EClinicalMedicine· 0 citations
Background/Objectives: Healthcare digital twins are being developed at scales ranging from individual organs to regional health systems. However, the literature at these different scales has largely evolved independently. This narrative review examines how the concept changes as the represented object grows, and proposes a five-level framework: physiological, patient, care-delivery, hospital and health-system twins proposed by the authors as an analytical framework. Methods: Web of Science, Scopus, PubMed and Google Scholar were searched between June and July 2026 for English-language records published from January 2022 onwards. Sources were eligible if they described a virtual representation of an identified physical counterpart in healthcare, updated from that counterpart’s own data and used to produce decision-relevant predictions. Editorials, abstract-only records, static models and work outside healthcare were excluded. The included literature was examined to identify recurring patterns in the representation and application of healthcare digital twins. These patterns informed the development of the authors’ proposed five-level conceptual framework. As no formal quality appraisal was undertaken, conclusions regarding evidence maturity and implementation should be interpreted cautiously. Results: Forty-four publications form the evidence base: 10 original studies, 26 reviews and 8 conceptual or consensus papers. Patient-specific applications were described primarily at the physiological and patient levels, particularly in cardiology and oncology. External validation remained uncommon, and prospective evaluation was rare across all five levels. Care-delivery twins were reported mainly in critical care, emergency and perioperative settings, whereas hospital and health-system applications were largely limited to prototypes and simulations. Conclusions: This review suggests that the challenges associated with healthcare digital twins evolve as applications move from physiological models to health-system settings. Beyond technical complexity, interoperability, organisational, governance and equity considerations become increasingly important. Prospective evidence of patient benefit, operational effectiveness and system-level impact remains limited across all five levels.
Leonard Azamfirei, D. Bica, Andrei Calin Dragomir et al.· Healthcare· 0 citations
Rare diseases affect a small percentage of the population but collectively impact millions worldwide. In the Middle East, the challenges are intensified by regional factors such as high rates of consanguinity, sociocultural stigma, limited diagnostic capacity, and inadequate healthcare infrastructure. These challenges often lead to delayed diagnoses, restricted access to treatment, and poor quality of life for affected individuals and their families. The Rare Advocacy Council conducted two 1.5-hour virtual expert panels involving 14 regional and international stakeholders (5 clinicians, 4 patient advocates, and 5 international academic experts) to identify and prioritize the challenges of managing rare diseases in the Middle East region. Discussions were organized across four domains: disease recognition and diagnosis, the patient journey and continuum of care, access to timely diagnostics, and access to adequate treatment, followed by structured online voting (involving only clinicians and patient advocates; n = 9), discussions focused on prioritization, and a descriptive follow-up survey to identify the most critical barriers and propose actionable solutions. Key challenges identified included the lack of national disease registries, limited public awareness, underrepresentation of patient voices in decision-making, fragmented multidisciplinary care, and restricted access to diagnostics and advanced therapies. Top priorities included developing national registries, enhancing media-driven education, strengthening collaboration among care providers, and improving treatment accessibility through policy reforms. Effective management of rare diseases in the Middle East requires a coordinated, patient-centered approach. Strengthening health system infrastructure, investing in education, and aligning policy with patient needs are essential for sustainable improvement. Collaborative action among policymakers, healthcare providers, and advocacy groups can significantly advance care delivery and improve outcomes for individuals living with rare diseases.
A. Farrugia, A. Bahey, A. Tarawah et al.· Orphanet Journal of Rare Dis...· 0 citations
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