SEARCHOTHERrare diseases, public health

other·rare diseases, public health, health informatics, telemedicine, medical genetics, neurology, immunology, metabolic disorders, cardiology, oncology, pulmonology, dermatology, gastroenterology, nephrology, ophthalmology, hematology, rheumatology, endocrinology·PMC10142407

Co-constructing effective collective intelligence networks in rare diseases: a mixed method approach to identify the parameters that matter for patients, professionals and policy-makers, piloted in Cyprus

Orphanet Journal of Rare Diseases · 2 authors, 2 centres

AI SUMMARY

FIDELITY 76%

POPULATIONPatients/families with rare diseases and healthcare professionals in Cyprus, including primary care physicians, specialists, laboratory scientists, allied health professionals, and national policy-makers

INTERVENTIONRARE-e-CONNECT network technology platform (patient communities, healthcare communities, medical teams, doctor-patient forum, specialist repository, webinar repository, patient stories wall)

COMPARISONNo formal comparison group; pre-post and cross-sectional evaluation of needs, intentions, and actual usage

This summary was generated by AI from a single paper. It has not been reviewed by a clinician and is not clinical advice. Verify against the source before acting on it.

AGENT 01 · STRUCTURED SUMMARY

TRACE TO SOURCE

“

TL;DR

This mixed-method study evaluates the RARE-e-CONNECT platform, a collective intelligence network for rare diseases piloted in Cyprus. Both patients and healthcare professionals showed willingness to share decentralized knowledge for raising diagnostic suspicion and providing psychosocial support, but uptake was hindered by individual practice norms, missing telemedicine policies, and lack of organizational infrastructure. The findings underscore that telehealth tools must be integrated with national and European policy frameworks to enable timely diagnosis, shared care, and effective collaboration across geographies.

Full summary

3,964 CHARS

**Background:** Rare diseases are characterized by scattered expertise and insufficient knowledge infrastructure. Collective intelligence (CI) networks—where geographically dispersed individuals exchange knowledge online—offer promise for improving diagnosis and management. The RARE-e-CONNECT project (co-financed by the European Regional Development Fund and Republic of Cyprus, grant POST-DOC/0916/0222, 2019–2022) created 25 patient communities and 25 healthcare communities organized by disease group, plus general forums, medical teams for professionals, a patient stories wall, a specialist centre repository, and a doctor-patient forum. The study aimed to identify parameters that matter for patients, healthcare professionals, and policy-makers in adopting such a CI network in Cyprus, a small EU country.

**Methods:** A participatory mixed-method approach was used: (1) a needs assessment survey with 27 patients/families and 26 healthcare professionals at the two largest referral hospitals in Cyprus; (2) semi-structured interviews with 40 patients/families/patient representatives, 37 clinicians and laboratory scientists (including national ERN coordinators/members), and competent bodies (Ministry of Health, National ERN Board Representative, Cyprus Medical Association); (3) activity metrics from 251 patients/families and 210 healthcare professionals registered on the platform between 23 September 2021 and 23 September 2022. Qualitative data (1,357 coded text segments) were analyzed using grounded theory with open, axial, and selective coding, interpreted through the Unified Theory of Acceptance and Use of Technology (UTAUT), Medicine 2.0, and CI frameworks.

**Key Results:** The needs assessment confirmed Web 2.0 literacy and willingness to collaborate. Qualitative analysis generated 1,357 codes under five UTAUT categories. Under actual use, four subcategories emerged: describing journey to diagnosis (136/1,357 codes), being a mentor to others (147/1,357), everyday challenges (145/1,357), and specialists sharing expertise (12/1,357). Performance expectancy (368/1,357 codes) included raising suspicion among GPs, myth-busting, need for European collaboration, and patient education in layman terms. Effort expectancy (75/1,357 codes) highlighted time constraints, need for community managers, and preference for non-written modalities. Social influence (129/1,357 codes) revealed inhibiting factors: "fiefdoms—individual thinking/practice," hierarchies, taboo around rare diseases, and the perception that "foreign doctors are never wrong." Enabling conditions (344/1,357 codes) included previous experience with networks, lack of hedonic pleasure (psychological burden), and critical policy gaps: no nationally accredited centres of expertise, no telemedicine/shared care regulations, and insufficient specialized staff. Activity metrics showed patients were more active than professionals: 84 posts vs. 24, 122 replies vs. 5, 25 patient stories. Anonymity was important for patients (50 fully anonymous, 139 semi-anonymous, 62 not anonymous). Healthcare professionals created 23 medical teams but requested zero meetings.

**Clinical Implications:** The RARE-e-CONNECT platform demonstrated potential to serve as a CI tool for pre-diagnosis awareness-raising among clinicians and post-diagnosis education and psychosocial support for patients. However, integration into practice requires: (1) formal accreditation of national centres of expertise and diagnostic labs; (2) telemedicine and shared care regulations with reimbursement mechanisms; (3) dedicated community managers to animate participation; (4) cross-referencing between CI systems across regions and languages, ideally under the EU Joint Action for ERN integration. The study is limited by digital literacy bias and pandemic-related constraints, and represents a first-phase work-in-progress toward building critical mass for sustainable knowledge-sharing networks.

PICO

PPOPULATION

Patients/families with rare diseases and healthcare professionals in Cyprus, including primary care physicians, specialists, laboratory scientists, allied health professionals, and national policy-makers

IINTERVENTION

RARE-e-CONNECT network technology platform (patient communities, healthcare communities, medical teams, doctor-patient forum, specialist repository, webinar repository, patient stories wall)

OOUTCOME

Usage metrics (registrations, posts, replies, community joins, anonymity preferences); qualitative themes on performance expectancy, effort expectancy, social influence, and enabling conditions

STUDY TYPE

other

SPECIALTY

rare diseases

SUMMARISED BY

AI pipeline

FIDELITY CHECK

76% · B

ORIGINAL PAPER

PMC10142407

Co-constructing effective collective intelligence networks in rare diseases: a mixed method approach to identify the parameters that matter for patients, professionals and policy-makers, piloted in Cyprus

Orphanet Journal of Rare Diseases

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ABSTRACT

Abstract Background Rare diseases are a particular field of public health that is characterized by scattered, often insufficient knowledge and infrastructure. The scarcity of specialized knowledge often forces clinicians and patients to an incomplete picture of the diseases and their associated risks. Effective person-centred networks appear promising for solving such real world and life-defining problems by purposely sourcing expert knowledge that is geographically-dispersed. The design and implementation of the RARE-e-CONNECT network technology is described. The project was funded to create collaborative spaces for the development of international partnerships in Cyprus’ healthcare, promoting the dissemination of expert knowledge on rare diseases while saving resources through teleconsultation. Parameters that matter for patients, providers and policy-makers through the RARE-e-CONNECT experience were evaluated through a participatory mixed-method approach, consisting of (1) a needs assessment survey with 27 patients/families and 26 healthcare professionals at the two referral hospitals for the diagnosis and management of rare diseases in Cyprus; (2) interviews with 40 patients, families and patient representatives, as well as 37 clinicians and laboratory scientists, including national ERN coordinators/members; (3) activity metrics from 210 healthcare professionals and 251 patients/families/patient representatives who participated on the platform at the time of the research. Results Our results indicate usage and intention by both healthcare professionals and patients/families to openly provide decentralized specialized information for raising suspicion amongst clinicians to facilitate the necessary referrals, as well as peer to peer psychosocial support to help cope with the everyday challenges of living with the disease. User behavior was largely affected by the prevailing social norm favoring individual practice, as well as missing policies for telemedicine and shared care. This article discusses how telehealth is inextricably linked to social, cultural, organizational, technological and policy factors affecting uptake. Conclusions We argue that collective intelligence tools need to be formally considered and work hand in hand with national and European policies/regulatory frameworks to promote proactiveness amongst the healthcare community with regard to the timely diagnosis of rare diseases and the facilitation of patients’ pathway to specialists. Collaborative channels between countries need to be established to source collective intelligence on complex cases and save resources through teleconsultation/telementoring. Keywords: Rare Diseases, eHealth, Healthcare Networks, Patient networks, Patient empowerment, Continuing Medical Education

CITATION EXPORT

Victoria Antoniadou, Adamos Hadjipanayis. Co-constructing effective collective intelligence networks in rare diseases: a mixed method approach to identify the parameters that matter for patients, professionals and policy-makers, piloted in Cyprus. Orphanet Journal of Rare Diseases. (2023). https://doi.org/10.1186/s13023-023-02672-y

AUTHORS

2 · 2 CENTRES

Victoria Antoniadou, Adamos Hadjipanayis

1Cyprus Alliance for Rare Disorders, Akropoleos 71, Nicosia, 2012 Cyprus
2Medical School, European University Cyprus, Karyatidon 42, Larnaca, 6042 Cyprus