eHandbook for Telecollaboration in Healthcare: Findings and lessons learned in rare diseases

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Cyprus Alliance for Rare Disorders / The “Folia” centre: Akropoleos 71, 2012 Strovolos, Nicosia, Cyprus

Tel: +357 22 203762

Fax: +357 22 203766



3 e-HANDBOOK FOR TELECOLLABORATION IN HEALTHCARE TABLE OF CONTENTS What this handbook is about and how to use it 4 A few words about the project 4 Glossary 5 Part I 6 Rare diseases and networks 6 How well do they work? 8 Part II 9 RARE-e-CONNECT: Design process and functionalities 9 Steps in creating a socially-driven, knowledge-sourcing 23 network and lessons learned Some thoughts and conclusions 31 References 32 Annex 1. Diseases represented by at least 1 patient or parent 34 Annex 2. Members 36 Annex 3. Use cases 37 Doctor-patient forum 37 HCP forums 39 Patient forums 42

What this handbook is about and how to use it

This e-Handbook is a deliverable for the RARE-e-CONNECT project (POST-DOC/0916/0222). The project was co-financed by the European Regional Development Fund and the Republic of Cyprus via the Research and Innovation Foundation for a duration of 3 years. The Host Organisation was the Cyprus Alliance for Rare Disorders (CARD).

Part 1 introduces Rare Diseases as a particular field of public health, discussing the challenges and the ways networks may be used to provide solutions.

Part 2 describes the implementation of the RARE-e-CONNECT project, the achievements and the lessons learned from each step of the experience.

Overall, this handbook provides research findings and actionable strategies for successfully integrating telecollaboration in healthcare, driving knowledge-sourcing and positive change in rare diseases and elsewhere.

A few words about the project

The RARE-e-CONNECT project was officially launched in 2019, under the full title “Introducing world’s best collaborative practices to rare disease patient care: Planting the seeds for state-ofthe-art global patient support in Cyprus”.

Specific objectives of the project were to:

1. create Virtual Teams for healthcare professionals and Online Patient Communities to discuss and promote understanding of the complex parameters involved in Rare Diseases.

2. examine how state-of-the-art collaboration technologies can enrich existing services, improving knowledge exchange and knowledge-building in rare disease healthcare.

3. propose effective ways of integrating telecollaboration for learning and development in healthcare.

The intention was to create the only interactive forum in Cyprus where patients and healthcare professionals (separately and together) would be facilitated to discuss and expand on rare diseases and treatments.

Ultimately, RARE-e-CONNECT intended to formulate links between research and advocacy, exploring expansion mechanisms for sustainability and continuing progress in rare diseases.

RARE-e-CONNECT is available at



Collective intelligence Collective intelligence is defined as the knowledge that emerges when individuals or groups work together to solve problems of shared concern. It grows out of focused interaction where different levels of cognition (e.g., perceiving, processing information, reasoning/ thinking), different past experiences and ways of doing things combine to produce a higher-level output than what would be achieved through individual work. More from The National Endowment for Science Technology and the Arts (NESTA)

Community-Based Participatory Research (CBPR): a research approach that integrates education and social action to improve health and reduce health inequities (Wallerstein and Duran, 2006 in Chen et al., 2020). CBPR projects can increase the relevance and appropriateness of intervention designs, improve the quality of data collected, facilitate participant recruitment, address issues that are relevant to community members, and build trust and partnership between researchers and community members (Salimi et al., 2012 in Chen et al., 2020).

European Reference Networks (ERNs): ERNs are virtual networks connecting healthcare providers with rare disease expertise across Europe. They aim to facilitate discussion on complex or rare disease cases upon patients’ consent. Collaboration with specialist members of the ERNs is carried out through the National Coordinators online via the Clinical Patient Management System (CPMS). Currently, the ERNs are the only source of accredited expertise in rare diseases across 24 disease groups, based on comprehensive quality criteria of service to the rare disease patient. More at Each ERN is associated with a Patient Advocacy Group (European Patient Advocacy Groups, ePAGs). More at

Human-Centred Design (HCD): HCD concepts i.e. design thinking have evolved through diverse disciplines ranging from computer science to visual design to architecture. HCD is defined as a repeatable, creative approach to problem solving that brings together what is desirable from a human point of view with what is technologically feasible and economically viable (, 2015 in Chen et al., 2020).

Networks: Networks are defined, in the field of ICT, as the configurations of devices connected and organised in specific ways to enable people to share information and resources with each other in order to increase their ability for problem solving. More at watch?v=GqRwpFKBbPM - What is a Network).

Telecollaboration: Telecollaboration is a form of virtual exchange using a configuration of digital communication technologies that allow participants or groups, independently of their geographical location, to collaborate in order to solve complex tasks and achieve shared goals. More at


Part I

Rare diseases and networks

Rare diseases: A brief overview

Rare diseases are a particular group of complex, chronic and progressive conditions. They are also heterogeneous conditions that can affect practically every system and organ of the body, requiring coordinated multidisciplinary care.

According to the definition established by the European Union, the clinical conditions that affect 5 or less in every 10,000 citizens are considered rare. There are more than 7000 different rare diseases or syndromes, currently recorded in the Orphanet portal for Rare Diseases and Orphan Drugs (Weinreich et al., 2008)

The majority of rare diseases are genetic or even hereditary, while many may be due to a combination with environmental factors that take place during pregnancy or shortly after birth. Often, and especially if they are not timely diagnosed to pursue treatment, rare diseases can cause irreversible, visible or invisible, disabilities and even premature death.

People diagnosed with a rare disease face a deterioration in their quality of life. They may be(come) unable to learn and do professional work, which has destructive consequences for their financial situation and everyday living.

Many authors and scientific groups have stressed how rare diseases, affecting 30 million people in Europe, 25 million people in the USA and 300 million people worldwide, are and should be regarded as a public health priority in need of a comprehensive plan of action to accommodate their devastating social and financial consequences on the person, the family, the society and the State itself (Valdez et al., 2016; Nguengang et al., 2019: Eurordis, 2022).

Challenges in rare disease diagnosis and therapies

Given the rarity and variability of rare diseases, clinical expertise in diagnosis and management is often limited and scattered across countries with large populations, which have been able to accumulate expertise in rare disease diagnosis and management over the years, based on large cohorts of patients.

At the same time, the symptoms of a rare disease may resemble those of common conditions only to further complicate or delay diagnosis.

Rare disease therapies are known as “orphan” therapies or “orphan” drugs. It is estimated that at least one approved treatment is available for only 5% or fewer of rare diseases. The cost of these therapies is extremely high for patients who often find themselves in unbearable financial strains (Willmer, 2022).


Knowledge-sourcing networks

In rare diseases, knowledge-sharing networks have been highly-valued for providing collaboration opportunities between patients and physicians, separately and together, independently of location, addressing the scarcity and geographical dispersal of specialised knowledge.

There are various types of networks in healthcare that can be differentiated as social, clinical, research by audience or hospital, national, regional, european, international by geography. National and regional networks may support patients to better manage associated health conditions, ultimately enhancing patient participation in their communities, workplaces, and society in general.

Valdez et al. (2016) argue how national and regional knowledge networks, as part of a comprehensive public health approach, can improve the methods and timing of diagnosis, develop clinical practice guidelines and quality measures, and promote research and clinical expertise sharing, amongst others. In the long run, the value of such networks appears promising for tackling serious public health concerns related to disease prevention, health promotion and life prolongation.

Social networks, i.e. networks built on technologies that facilitate social interaction, can reach large audiences, allowing people with similar interests to come together and share information through multiple modalities, developing relationships that might not be possible otherwise, due to geographical distances and temporal constraints. Through social networks, individuals can exchange messages, share information in communities (electronic shared spaces), and learn through various forms of e-learning functionalities.

Similarly to the RARE-e-CONNECT social network, the following projects also seek to bring together the international patient and family community (carers) to support each other and help advance rare disease research, generating collective awareness and advanced knowledge on rare diseases.

Example 1: Share4Rare1 is a Horizon 2020 funded project looking to build a community of patients, carers, clinicians and researchers to transform rare diseases into known diseases by advancing research and sharing. It is addressed to people and families with rare diseases.

Example 2: The PatientsLikeMe2 platform (2005-2016) provides discussion boards and online meeting opportunities for patients with rare conditions around the world to find answers to their questions, aiming to make healthcare better for everyone through sharing, support and research.

Example 3: In Spain, Medting.com3 (2008) is an Internet website for the exchange of clinical cases, medical images and videos across multiple medical and surgical specialties. It derives from the EU-funded EuSANH-ISA project (FP7, grant agreement number 229716). The purpose is to harness collective wisdom on complicated conditions, lending support to fellow professionals in different departments. Specialists are given the opportunity to share the history of their patient, imaging results, receive peer reviews and ask for second opinions on difficult patient cases within hospitals and around the globe (Calvo et al., 2013).

1 Available at

2 Available at

3 Available at


How well do they work?

How well social networks work depends on the extent to which it delivers value to users. Geddes (2011) identifies 4 pillars of value delivery: (1) Information capital: Provides user with information that they find useful; (2) Emotional capital: Provides content that triggers an emotion in the user; (3) Temporal capital: Provides a function that saves the user time or effort; (4) Financial capital: Provides a financial incentive to use the site.

Important parameters to also be considered when setting expectations from social networks are achieving critical mass while not jeopardising saturation i.e. maintaining growth without constraining engagement. Critical mass, as Geddes (2011) describes, is not a predefined number or size that fits all but differs according to the context and the social medium described.

Venkatesh et al. (2003) also make insightful theorisations about technology adoption, identifying constructs to predict or interpret users’ behaviour. These constructs are defined as below:

(1) Performance expectancy: the degree to which an individual believes that using the system will help him or her to attain gains in job performance.

(2) Effort expectancy: the degree of ease associated with the use of the system.

(3) Social influence (or subjective norm): the extent to which important others perceive/feel that a focal individual should use the new/target system.

(4) Enabling conditions: the degree to which an individual believes that an organisational and technical infrastructure exists to support them in using the system. Enabling or facilitating conditions are also related to age, gender, experience, voluntariness, and facilitators.


Part II

RARE-e-CONNECT: Design process and functionalities

There is no universal guide or process for designing a network that guarantees a critical mass, engagement and sustained/focused interaction driving collective intelligence.

RARE-e-CONNECT constitutes an attempt to provide a unified multifunctional space and opportunities for social, learning-laden interaction on strictly RD-related issues.

It is built on mundane/ popular Web 2.0 tools, allowing safe information exchange through:

1. multiple forms of (multidisciplinary) collaboration and capacity-building for healthcare professionals

2. multiple forms of collaboration for capacity building and empowerment for patients and families

3. continuous learning for patients and physicians

RARE-e-CONNECT is accessible from within and outside the hospital and generally from any geographical location with an Internet connection, enabling reading, sharing feelings, experiences, and scientific knowledge with clear advantages for clinical decision support and patient empowerment.

We paid particular emphasis on assembling and implementing the technical requirements of the platform to bear meaning to the rare disease community in Cyprus, with input also from relevant European associations and knowledgeable bodies. We evaluated the beta version of this design in real work and life settings with key representatives from the patients/ families group and healthcare professionals group in Cyprus to determine applicability and sustainability in the long run.

The process cycle of designing and evaluating the beta version of the platform is described in Table 1 below in line with the stages of the CBPR/HCD framework by Chen et al. (2020). The following sections present lessons learned and practical recommendations deriving from this experience.



Focal areas according to CBPR/HCD

RARE-e-CONNECT Replicable actions & Outcomes



Co-creation along the components of empathy, creativity, delight, relationship building. The power dynamics with regards to design are shifted leading cocreation of the final product, relationship building, enhanced empathy and creativity, delight.

Needs assessment survey of healthcare needs at two national hospitals for rare diseases: paediatric and adult

Needs assessment survey to patients and parents + One-to-one interviews with patient associations

Information from 250 patient records at the Cyprus Alliance for Rare Disorders/ Field notes from phone conversations through CARD support team regarding meaningful/ useful technological support to their needs (use scenarios).


Engages users/partner in all stages

Provides a benefit to intended stakeholders generating localised, scalable solutions, actions and research for future action.

Presentation of platform mock up & objectives to patient associations, healthcare professionals to receive input based on use-value in line with real life needs.

The above steps aimed to confirm the meaningfulness of the proposal to be implemented and identify unmet needs (gaps to be filled).


(beta version)

Systematic yet flexible/adaptable

Inviting participation/ Constructing critical mass

Identified key (healthcare and patient) users based on their relationship with rare diseases and expert status to conduct guided participation and questionnaire-led in-depth interviews post-use. Engaged other (healthcare and patient) users as the process went along.

Local RD Specialists – ERN members and others

Process Outcomes

Generalisable (specific to general)


Requires training to execute

Clients/partners sustain efforts at project conclusion

RD Lab specialties- ERN members and others

Patient associations, individual patients

General medical community

National authorities (Ministry of Health, Cyprus Medical Association)

Consisted in Guided participation to the platform and on-site evaluation of alignment with existing needs via one-to-one interviews.

Documented comments and observations of behaviour while using the platform. Suggested modifications are implemented in parts within the capacities of available funding (e.g., doctor-patient forum)

Partners suggested scenarios of use in line with real life needs.

Bidirectional knowledge exchange, capacity building, co-ownership of research/knowledge

There was a continuous knowledge exchange between researchers, web developers, rare disease patients and Healthcare professionals, and a learning experience for everyone involved.

The above steps led a “cyclical and iterative process that included building partnerships and community trust, community assessment, problem definition, development of research methodology, data collection and analysis, interpretation, determination of action and policy implications, dissemination of results, action and plans for sustainability” (Chen et al., 2020).


Implementation of new knowledge into tangible output. New strategy development.

Usage-based comments by healthcare professionals and patients, implemented as new technological features or as improvements to existing ones within the capacities of available funding. They were also used to drive/support advocacy actions.

Table 1: The stages underlying the RARE-e-CONNECT creation process along the CBPR/HCD framework. Constructed based on Chen et al., (2020)

1. The RARE-e-CONNECT patient and families knowledge-sourcing network

Patient communities

The patients’ network is composed of 25 Patient communities (forums) corresponding to 25 rare disease groups, including a community (forum) for undiagnosed conditions. E.g., neurological diseases, cardiovascular diseases, rheumatological diseases and so on. (see Screenshot 1).

Disease groupings were preferred over disease-specific communities to:

(1) tackle challenges deriving from the small number of affected population locally.

(2) harness the potential of promoting interaction between people with different diagnoses but similar problems/ daily challenges.

Screenshot 1: Sample of patient community (forum)

The possibility of creating smaller disease-specific communities has been reserved for later on when a substantial number of patients and families with specific diagnoses would have been reached.

All patients and families registered on the platform can communicate via the General discussions community (forum). The General Discussions community is dedicated to discussions on topics of mutual concern to patients irrespective of diagnosis e.g., insurance, rare diseases and education, transition from child to adult care and so on.

Communities are linked to an electronic mailing system to share updates with members, as they happen.

Patient repository

Upon registration, patients are invited to create their profile and decide whether they want to make it public to all other members of the platform. If so, they appear on a patient repository where the other members of the platform can see them and choose to communicate with them (Screenshot 2).

Screenshot 2: Patient repository (sample with no patient names to preserve privacy)

Patient stories

Patient stories are well-known for their potential to support and empower patients and families following diagnosis.

On RARE-e-CONNECT, patient stories are dedicated to sharing experiences with diagnosis (patient journeys to diagnosis). The RARE-e-CONNECT Patient story functionality (Screenshot 3) was found to be a place of awareness-raising regarding various rare diseases, quoting typical (textbook) and atypical early symptoms, and revealing needs and potential for Continuous Medical Education to improve timely diagnosis (Antoniadou & Hadjipanayis, 2022).

Screenshot 3: Selected patient stories

2. The RARE-e-CONNECT scientific knowledge-sourcing network

Healthcare Communities

The scientific network (accessible to healthcare professionals only) is also composed of 25 communities (forums) (Screenshot 4).

All healthcare professionals registered on the platform can be informed about rare disease matters and communicate through the General discussions community (forum) (see Screenshot 5).

Electronic mailing is installed on each community to share updates with members, as they happen.

Screenshot 5: General discussions community (forum)

Screenshot 4: The 25 +1 communities of the RARE-e-CONNECT network

Medical teams

The Medical Teams functionality is exclusively accessible to healthcare professionals (clinicians, laboratory scientists and allied healthcare professionals) enabling them to create working groups with selected colleagues (already registered to the platform or not) for multidisciplinary case discussion and/or other purposes (Screenshot 6).

Screenshot 6: RARE-e-CONNECT Medical teams functionality

Upon registration, healthcare professionals are invited to complete their professional profile in order to be part of a “colleague finder”. This is required in order to be visible to colleagues and be invited in Medical Teams (Screenshot 7). Professional profiles have been created in line with directives EU 2005/36/EC and ΚΔΠ 357/2003 and ΚΔΠ200/2015, in collaboration with the Registrar of Cyprus Medical Council.

Screenshot 7: Healthcare Professionals (selected members) filtered by ERN membership)

Healthcare professionals choosing to use the RARE-e-CONNECT medical teams can use the asynchronous functionality to post material ahead of their meetings and maintain an organised space for regular (synchronous or asynchronous) meetings with colleagues (Screenshot 8).

3. Open access functionalities

Specialist centre repository

In light of the Directive 2011/24/EU on patients’ rights in cross-border healthcare the RARE-eCONNECT includes a searchable database of specialised medical centres in Europe, organised by disease group, and including specific diseases where the information was available (Screenshot 9).

Screenshot 8: Medical team arrangement (asynchronous and real time communication)

This database includes (1) medical centres who have been accredited by the European Commission as full members of the ERNs and (2) medical centres who have received international accreditations from other accrediting bodies including clinical trial sites etc. The professionals and patients who make use of this database can make their choice of centre based on type of accreditation, locality and specific expertise.

The specialist centre repository is also included in the Memorandum of Collaboration (2019) between the Cyprus Ministry of Health and the Cyprus Alliance for Rare Disorders. It is reviewed and updated to reflect the latest information.

eLearning for patients and healthcare professionals

The e-Learning section is an open functionality accessible to both patients and families, healthcare professionals and all interested stakeholders visiting the platform. It consists of a repository of webinars by various authors including RARE-e-CONNECT, must-have rare disease resources, and research updates. This latter is automatised to download the latest scientific publications, including clinical trials news and participation calls from key databases. (Screenshots 10-12). The aim is to facilitate continuous medical and patient education.

Screenshot 9: Specialist centre repository by disease group
Screenshot 10: e-Learning section for Healthcare professionals, patients and families Screenshot 11: Webinar sub-section for Healthcare professionals and patients

Screenshot 12: Research updates sub-section for Healthcare professionals and patients

Doctor-patient forum

This is a third electronic space allowing communication between patients/families and healthcare professionals, avoiding fragmentation and a “two-camp” approach in rare diseases (Screenshot 13).


Screenshot 13: Doctor-patient forum allowing communication between Healthcare professionals and patients/families

The doctor-patient forum is primarily used to support and penance patient and family knowledge on rare diseases in local language and layman terms.


Steps in creating a socially-driven, knowledge-sourcing network and lessons learned

This section elaborates on lessons learned from the RARE-e-CONNECT experience as a contextualised pathway and actionable strategies for similar endeavours involving collective intelligence.

The steps described in this section follow the process illustrated in Table 1 under Part 1.

Step 1: Conduct a needs assessment for a meaningful creation

Identify the ways the initial proposal resonates with the values and real needs of the target audience in order to build the prototype

Needs analysis is understood as the process of identifying and evaluating the needs of the target audience before the development of a new tool or programme. It is important for revealing existing practices and unmet needs (gaps) which can then define the added value of the new tool or programme (Bleich, 2018; Christensen, 2018). Furthermore, it can help form a first idea of the parameters that are deemed relevant and should be taken into account for success in making a positive change.

In the case of RARE-e-CONNECT, the needs assessment survey sought to gather information on:

I. current collaborative practices in the case of patients, families and healthcare professionals

II. Web 2.0 literacy and professional/personal use

III. main criteria of HCPs and patients/families for selecting colleagues and communicating with other patients/ families respectively

IV. challenges that RARE-e-CONNECT could help resolve.

The target audience of the needs assessment survey should be carefully selected to include the people who are most likely to use and benefit from the tool in the long run.

For RARE–e-CONNECT, we chose to conduct this survey at the two major hospitals of the country that receive the bulk of rare disease cases and are equipped to diagnose and manage a large number of rare diseases. The collaborative needs in these two hospitals with colleagues within Cyprus (in multidisciplinary formations or otherwise) and in Europe are higher. Therefore, the professionals in these two hospitals were deemed as the “extreme users” of the platform-tobe (Chen et al., 2020). Similarly, we referred to rare disease patient association leads and their members as the “extreme users” of our platform-to-be for patients and families.

Useful tools for data collection at this stage can be questionnaires and focal group discussions during workshops or otherwise. Questionnaires can be used to guide the discussion and produce qualitative data to enrich numerical data on the topic at hand.


Lessons learned

Engaging the community from the start helps to ensure meaningfulness and long-term engagement to a new tool or programme, bringing together what is desirable from a human point of view to what is technologically feasible and economically viable ( in Chen et al., 2020) within the premises of the available funding.

The Community Based Participatory Research and Human Centred design approach (Chen et al., 2020) gave us the opportunity to identify important topics, patient needs, develop understanding, create connections within Cyprus, Greece and Europe, identify “unknown” rare diseases through technology that could not necessarily be achieved face to face.

Naturally-occuring (qualitative) data triggered by topic presentations or purposeful followup questions can reveal useful insights on the topic at hand that a questionnaire alone would not be able to capture, and account for real use scenarios.

Step 2: Build a critical mass to engage with your prototype

Identify and recruit key stakeholders

A critical mass is defined as “a size, number, or amount large enough to produce a particular result” (Webster- Merriam4), and “the minimum amount of something required to start or maintain any project or venture” (vocabulary.com5).

The field of rare diseases is characterised by geographical dispersal and scarcity of expertise which often forces clinicians and patients to an incomplete picture of the diseases and associated risks. Therefore, RARE-e-CONNECT targeted a specific number of specialists who could share specialised knowledge on rare diseases, drawing on lengthy experience with large numbers of patients and participation in the ERNs. A greater number of providers (general medical community) could benefit from receiving/reading specialised information on rare diseases.

We contacted them via telephone and /or emails inviting them to join the platform. In parallel, we recruited patient associations through the Cyprus Alliance for Rare Disorders, patients and families with a rare disease diagnosis, using the same methods to invite them to join the platform.

From then onwards, we used the snowball method to recruit more participants within national and international borders. The snowball method consists in asking key participants e.g., patient associations/ healthcare professionals to assist us in recruiting other patients and physicians both in Cyprus and abroad.

We were able to gather a large and diverse enough audience (in terms of diagnoses and expertise) to register on the platform. Collectively, this audience would be able to influence the RARE-eCONNECT effort to achieve positive change in rare diseases from something needed or wanted, to something actually happening (i.e., ERN national coordinators, ERN European coordinators,

4 Available at

5 Available at


general practitioners, specialists, allied healthcare professionals, laboratory scientists, patient association leads and individual patients, family members from Cyprus and Europe). Moreover, this critical mass allowed us to identify diverse content needs to accommodate, as well as the organisational, technical and policy parameters underlying the usage of RARE-e-CONNECT platform to take into account for securing real benefit.

Given the shared “collaborative mindset” between this project and other initiatives in Europe for the dissemination of specialised knowledge into the local communities of providers and patients/ families (e.g., ERNs/ePAGs) , it was also useful to engage national stakeholders and regulatory bodies (i.e. Ministry of Health, Cyprus Medical Association, National ERN Coordinators) to ensure accuracy (e.g. specialisation menus according to EU 2005/36/EC directive on the recognition of professional qualifications, ΚΔΠ 357/2003 and ΚΔΠ200/2015) and explore the possibility of purposefully contextualising this tool for substantially greater benefit.

The COVID 19 imposed delays in breakthrough time to key stakeholders. Hospitals were not accessible to researchers for a long period of time, because of lockdowns denying access to both physicians and rare disease patients (as a particularly vulnerable group). We extended the data collection period arranging one-to-one meetings to preserve safety conditions, while accommodating patients and providers’ needs.

Lessons learned

In rare diseases, there are particularities to consider when building a critical mass for sharing information and producing engagement. Not everyone can produce/share specialised information on rare diseases to create value to the network while there are great needs for specialised knowledge consumption by both patients/families and healthcare professionals.

The process of building a critical mass should be carefully and consciously implemented to reflect the real-life to allow accurate evaluations of the prototype.

Be systematic, yet flexible enough to adjust to new discoveries. Be persistent and versatile enough to adjust to any unforeseen circumstances e.g., response times, accessibility, and propose alternatives to safeguard quality output.

Involve all the relevant stakeholders i.e., regulatory and scientific bodies to ensure accuracy of content, contextualisation, and real life value of the initiative.


Step 3: Evaluate in real life settings

Guide participation and identify the parameters that matter for use and growth

The importance of testing a new tool or programme in real life settings allows researchers to understand human cognition and behaviour in situ and identify how a new tool and practice could work within existing views and practices.

Guided participation is defined as “a process through which an experienced person helps another person who has less experience to become competent in practices that are personally and socially meaningful practices of everyday life” (Pridham, 1998). This approach was deemed useful for introducing the RARE-e-CONNECT innovation both as a technology and as practice (requiring an essentially collaborative mentality).

We used the guided participation approach to initiate our interview sessions with potential “extreme users’’ (as identified in Step 2) who had particular needs in terms of networking and e-learning. Doing so, we were able to observe actual user behaviour around the technology as well as aspects of the work or life environment of professionals and patients’ respectively, posing facilitating or inhibiting conditions for the adoption of this technology.

The interview sessions were used to complement standard methods of data collection and evaluation e.g., pre/post-questionnaires, workshop presentations and recordings. For the analysis of the interviews, we used qualitative coding, along the lines of the Grounded Theory methodology to determine the parameters that matter for technology adoption based on real life value (Cho & Lee, 2014; Chun Tie et al., 2019).

Activity metrics were also obtained between 23.09.2021 and 23.09.2022. We analysed quantitative data from 251 patients/families and 210 HCPs illustrating the actual usage/user behaviour of the technological functionalities proposed i.e. Registration/Profile creation, Patient communities, Healthcare Communities, Medical Teams, Patient stories.

Lessons learned

It is not always guaranteed that you will get the responses you need through a questionnaire. Plus, it does not allow for deep qualitative views on the participants’ reasons for doing or not doing something, which are also inextricably linked to the specifics of their everyday life and work.

Explore funding capacities to include new learnings from experience and enhance your prototype.

It is important to allow time for spontaneous use and measure outcomes of naturallyoccurring behaviours as possible indications of long-term sustainability.

Multimodal data i.e., video, audio, text, numerical, allow for comparisons and more comprehensive understandings of the situation at hand.


Step 4: Use your findings to determine actual and potential impact

Identify internal and external variables affecting the adoption of your system

To impact means to have “a marked effect or influence on something” (Cambridge dictionary).

In this project, we piloted a new technological tool and researched its impact (actual and potential) for providing specialised information and support to healthcare professionals and patients with a rare disease diagnosis (Geddes, 2011).

The theoretical constructs of the Unified Theory of Acceptance and Use of Technology (UTAUT); namely, performance expectancy, effort expectancy, user behaviour, social influence and enabling/facilitating conditions by Venkatesh et al., (2003) were used to interpret the findings deriving from a mixed methods research approach and analysis. (See Part 1, p.8 “How well do they work”).

Performance expectancy: the degree to which an individual believes that using the system will help him or her to attain gains in job performance

Overall, there was a positive affective reaction towards the technology itself as a unified space for learning in rare diseases through collaboration and dedicated e-learning functionalities. Both patients/families and healthcare professionals spoke about a particularly useful tool for raising awareness leading suspicion on the early signs of disease to facilitate timely diagnosis, which would in turn drive effective management. Specialists were particularly fervent about the need for “myth busting” regarding rare diseases and “being proactive” for timely diagnosis, and not reactive identifying this latter as “the problem of the medical community”.

The possibility of having open access to a dedicated space of specialised knowledge and collaboration with colleagues in Europe was identified by the local community as the primary added value of this network for “being proactive” in rare diseases. Another area of impact was the possibility of collaborating with colleagues within the country (e.g., communication/exchange between centres of reference and other hospitals) to facilitate patient care across districts in Cyprus. For clinicians nationally, collaboration for urgent matters is primarily carried out over the phone and through emails, indicating that the RARE-e-CONNECT platform could be part of a configuration of tools to facilitate patient and professional pathway to specialised information postdiagnosis, retaining information for better organisation and consultation later on and supporting support effective care in the short and long-run.

Effort expectancy: the degree of ease associated with the use of the system

Effort associated with the use of the system was related to both technology but also the specifics of the workplace. Despite the perceived ease of use of the RARE-e-CONNECT technology it was found to be largely incompatible with the time demands of the workplace and personal life, requiring effort to decide on content and present complex information in writing.

Time constraints were also declared as the cause of no participation in other collaborative initiatives. Overall, there was a clear preference for content consumption over production by both the patient and professional groups who participated in our research.


From the technological point of view, we explored the integration of different modalities for sharing content i.e., video, audio as a possible time-saver for posting on the platform.

Social influence (or subjective norm): the extent to which important others perceive/feel that a focal individual should use the new/target system.

Participation was boosted following registrations by the European healthcare and patient community and “important others” from the local community. At the same time, it was hindered by the perception that there were established “Fiefdoms - Individual thinking/practice”, “hierarchies and existing status-quo” “Doctor know-it-all and patient doctor-needs-to-know-it-all mentality” , as well as stereotypical patient perceptions that “Foreign doctors are never wrong” (codes from our qualitative analysis).

Facilitating/enabling conditions: the degree to which an individual believes that an organisational and technical infrastructure exists to support them in using the system. Also related to age, gender, experience, voluntariness, and facilitators.

Quoting Craig et al. (2008), “successful implementation of innovations depends on changing behaviour - often of a wide range of people. This requires a scientific understanding of the behaviours that need to change, the factors maintaining current behaviour and barriers and facilitators to change and the expertise to develop strategies to achieve change based on this understanding”.

For the purposes of the RARE-e-CONNECT project, we documented views and behaviours (insitu and at distance) towards the collaborative technology and practice proposed. Through a mixed methods research, we were able to identify parameters that matter for sustainability in the 4 categories described in Step 5 below (See Antoniadou & Hadjipanayis, 2022, for a scientific publication of the RARE-e-CONNECT findings).


Lessons learned

The impact of any technological creation should be considered in a short and long-term dimension and must be understood within the sociocultural, technological and policy framework.

Testing with authentic users (people) in real work and life contexts can offer insights about application and sustainability.

Theoretical constructs can help develop and synthesise understandings of the situation at hand and propose solutions.

Step 5: Propose solutions for sustainability based on SWOT

Determine the technical and organisational needs of the tool to be sustainable

There are internal and external factors to technology adoption and normalisation in work and life settings. Normalisation means that technology becomes an effective element that seamlessly supports the patient care process, post-diagnosis or while searching for one. (Bijker, 1997; Bax, 2003).

Our main findings can purposely be placed under the 4 categories proposed in the SWOT analysis method in order to devise effective strategies for sustainability.

Strengths: A single space of collective information/awareness on rare diseases; comprehensive to include both patients/families and physicians; no geographical boundaries to access; able to disseminate information widely from specialised centres to the local medical communities/ primary care physicians to raise awareness about the early signs and symptoms of a rare disease, introduce suspicion and the process to follow in order to reduce time to diagnosis; comprehensive tool for doctor-patient communication to avoid “two-camp” approaches.

Weaknesses: Need for the integration of all sharing modalities that the intended audience is familiar with i.e., synchronous communication, chat, image, audio and video sharing; Need for integrated translation to all languages (currently available in Greek and English); Need for private chatting functionality (beyond the capacities of the present funding)

Opportunities: There is a recognised need for safe networking to drive specialised knowledgesourcing and progress in rare diseases (see National Plan for Rare Diseases, 2012; EU4Health Work Programme, 2022 - EU Joint Action on ERN integration into the National Healthcare Systems; Eurordis, 2020). Networking can help patients find valuable information and benefit from other patients’ experiences with the disease. In turn, patient networking can support them on a social and professional level, fight prejudice and reinforce their self esteem.


At the same time, networking through effective technologies can help locate expertise. Within this mindset, the upcoming EU Joint Action on the Integration of the ERNs into the National Healthcare Systems clearly calls for (1) the development of national networks in rare diseases, (2) interoperable national teleconsultation tools, and (3) a clear national strategy for effectively communicating ERN information, clinical guidelines, training materials etc. towards all levels of healthcare providers on the national territory. (see National Plan for Rare Diseases, 2012; EU4Health Work Programme, 2022 - EU Joint Action on ERN integration into the National Healthcare Systems; Eurordis, 2020).

Since 2019, there is a Memorandum of Collaboration between the Ministry of Health and the Cyprus Alliance for Rare Disorders for the provision of face to face and electronic support services to patients and providers. Furthermore, the collaborations established during this project with patient associations and medical centres in Cyprus and other countries can be purposely leveraged for specialised information sharing.

Threats: Absence of compatible policies and legal frameworks to support and incentivise use of collaborative care i.e., Telemedicine/ Shared Care and reimbursement; Absence of national accreditations of clinical and laboratory expertise/ National Reference Centres and University Clinics tasked with disseminating specialised information on rare diseases/promoting medical education; absence of national registries and nationally-endorsed therapeutic protocols for rare diseases; lack of specialised multidisciplinary and supportive staff for rare diseases, social infrastructures for patient support; presence of taboos for patients and families preventing them from speaking up and making their situation known to others; absence of essential collaborative mentality.

Although further research may be needed to assist the process of implementation, the above outcomes quote the conditions for creating a favourable environment to promote telecollaboration and knowledge exchange in rare diseases for progress.

Lessons learned

It is not just the technology but the policy and sociocultural context around it, which defines its perceived benefit, adoption and application.

Any socio-technical innovation, such as RARE-e-CONNECT, implies a process of change in both the structure of a socio-technical system and the relationship among the actors inside that system (Bijker, 1997; Quist, 2007; Torresa, 2017) i.e. patients/ families and healthcare professionals in order to effectively fulfil a societal function (Geels, 2004).

It is important to link with wider actions within the field e.g., national/ European policies and needs and try to respond with a meaningful long-term benefit.


Some thoughts and conclusions

Building collective intelligence in rare diseases

Patients learn at the doctor’s office, conferences, online and empirically, while doctors learn through conferences, published research and empirically. The need is to find incentivising ways of bringing effective learning modalities together on the virtual setting in order to increase possibilities for meaningful collaboration, knowledge dissemination and the development of new collective cognition beyond geographical boundaries for enhanced patient care.

This handbook relates research results from the implementation of the RARE-e-CONNECT project to promote the use of telecollaboration and e-learning as cost-effective solutions to medical education and patient care.

Our approach was framed in a collective intelligence mindset and was essentially communitybased, allowing us to:

1. locate patients diagnosed with rare or ultra-rare diseases in Cyprus and enable them to speak up about their diagnosis or start thinking about doing so (see Annex 1).

2. recruit a critical mass of rare disease stakeholders in Cyprus and abroad, including clinicians, laboratory physicians and allied health professionals to join and experience telecollaboration through the RARE-e-CONNECT tool (see Annex 2)

3. develop relevant use cases of telecollaboration through the RARE-e-CONNECT tool with the patient and professional communities, define real-life value and identify the parameters that matter for long-term uptake (see Annex 3).

As described in the introduction, collective intelligence emerges when many individuals work together, exchanging knowledge and experience and using it to solve shared problems. This approach appears to be quite promising for progress in the field of rare diseases, which is characterised by scarcity and often insufficient knowledge or infrastructure for effectively diagnosing and managing both the diseases and their associated risks.

The collective intelligence approach would allow more openness of specialised content, equalising access to information worldwide for both patients/ families and professionals.

If strategically implemented in alignment with compatible organisational and policy frameworks, RARE-e-CONNECT can be an important tool for rare disease healthcare in support of national progress. It can advance the dissemination of specialised information from field experts to primary care physicians to raise awareness leading suspicion of a rare disease, prompting referral and timely diagnosis. In turn, it can facilitate national, interregional and international collaboration in support of effective clinical decision-making and multidisciplinary care.



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Annex 1. Diseases represented by at least 1 patient or parent

(last update November 2022)

Neurological diseases

Oral facial digital syndrome type 6 and Joubert Syndrome; Familial Amyloid Polyneuropathy, Myasthenia Gravis, Ocular Motor Apraxia; PSP - PROGRESSIVE SUPRANUCLEAR PALSY; FSHD Muscular dystrophy; HNPP; Charcot Marie Tooth disease; Friedreich’s ataxia; Νeurofibromatosis Type 1; Multiple sclerosis; Centronuclear myopathy related to dynamin 2 mutations (CNM DNM2); Meige syndrome.

Neuromuscular diseases

Emery Dreifuss Muscular Dystrophy; Generalised Dystonia; Carnitine palmitoyltransferase II deficiency II Myopathic Form (CPT II Myopathic Form); Duchenne Muscular Dystrophy; Limbgirdle muscular dystrophy; Spinal Muscular Atrophy (Type I); Parry-Romberg syndrome.

Autoinflammatory/ Immunological diseases (including autoimmune)

Common Variable Immunodeficiency (CVID); CVID with BILU Syndrome; Granulomatosis with polyangiitis (GPA/ Wegener), Familial Mediterranean Fever (FMF); Periodic Fever, Aphthous Stomatitis, Pharyngitis, Cervical Adenitis syndrome (PFAPA syndrome); Still disease; Behcet Disease; Psoriatic Arthritis; Relapsing Polychondritis and Ankylosing spondylitis; Cold agglutinin disease; Lichen planopilaris.

Gastroenterological diseases

Oesofageal achalasia; Median arcuate ligament syndrome (MALS).

Inherited Metabolic Diseases

Glutaric Aciduria Type 1; Maple serum urine disease; Ornithine transcarbamylase (OTC) deficiency; Phenylketonuria (PKU); GABA transaminase deficiency; Non-ketotic Hyperglycinemia.

Dermatological diseases Darier disease; Cutaneous Mastocytosis (child).

Rare Cancers

Xeroderma Pigmentosum; Familial Adenomatous Polyposis; Von Hippel-Lindau disease; CarneyStratakis Syndrome (Carney Triad); Medullary thyroid cancer MEN2A associated.

Ophthalmological diseases

Ocular Motor Apraxia; Complete achromatopsia 3; BEST disease


Respiratory diseases

Alpha-1 antitrypsin deficiency; Primary Ciliary Dyskinesia or Kartagener syndrome; Cystic Fibrosis; Lymphangioleiomyomatosis

Genetic syndromes/ Congenital disorders (multisystem)

ADNP syndrome; Kleefstra syndrome; Loeys Dietz Type II; 48XXYY; Congenital Muscle-Brain-Eye Disease; Maternally-Inherited Diabetes and Deafness (MIDD); MIRAGE syndrome; Amyloidosis (secondary); Laryngeal cleft; Tuberous Sclerosis; Williams syndrome

Endocrinological diseases

Prader-Willi Syndrome; Adrenal insufficiency (Addison disease); Medullary thyroid cancer MEN2A associated

Liver diseases

Biliary atresia; Alpha-1 antitrypsin deficiency

Haematological diseases & malignancies

Β-thalassaemia; Erdheim-Chester syndrome; Myelofibrosis; Cold agglutinin disease; Erythromelalgia; Thrombophilia; Raynaud disease

Rheumatological disorders and of connective tissue

Ehlers-Danlos Syndrome

Urogenital diseases

IC (Interstitial Cystitis)


Annex 2. Members

Clinicians: Anaesthesiology, Cardiology, Medical Oncology, Dermatology, General Medicine, Haematology, Clinical Genetics, General Paediatrics, Specialised Paediatrics, Neurology, Nephrology, ENT, Ophthalmology, Nuclear Medicine, Pathology-Oncology, Pulmonology, Radiology-Oncology

Laboratory scientists: Molecular Genetics, Biochemical Genetics, Biology

Allied health professionals: Genetic counsellors, Clinical Psychology, Physiotherapy, Speech Therapy, Occupational Therapy, Clinical Nutrition, Social Work

Countries: Cyprus, Greece, UK, Germany, Italy, Belgium


Annex 3. Use cases

Doctor-patient forum

1. Paediatric metabolist explains why L-carnitine is needed for Glutaric Aciduria, dosage, possible side effects and solutions


2. Neurologist informs about gene therapy research and availability for rare neuromuscular diseases, and procedures to be followed in Cyprus for patient access


HCP forums

1. Orphanet emergency guidelines for rare diseases


2. Clinical vs. laboratory criteria for FMF diagnosis


Patient forums

Patients and parents talk about their experiences of being prejudiced against because of their invisible disabilities.

On this occasion, videos were created with patient stories, and conference presentations were given by patients to raise the issues to the ears of the competent authorities, and raise public awareness.


Connecting Cyprus to Europe leveraging translation to local language, proximity, and additional communication channels


The Project POST-DOC/0916/0222 is co-financed by the European Regional Development Fund and the Republic of Cyprus through the Research and Innovation Foundation.

The Host Organisation is the Cyprus Alliance for Rare Disorders.

Publication date: November 2022

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