It was interesting to know their main criteria for selecting their colleagues (also relevant to the research), which were face to face acquaintance/ previous collaboration or colleague recommendation (Fig. 3).
From the patients/ families’ side, it was confirmed that sharing knowledge and experience with other patients could provide support to them on the psychological level and better knowledge about the disease itself and including self-help tips (Fig. 4), and that they largely used the Internet and Internet applications for health-related information as elaborated in Figs. 4 and 5.
(ii) Qualitative data analysis (interviews)
The real bulk of information in terms of the parameters that matter for HCPs, patients/families and national authorities was achieved through the interviews carried out post-launch of the network technology (necessarily in beta version) in real life and work settings of patients/families and HCPs (general and specialists) respectively.
Overall, our analysis of qualitative data generated 1357 codes (pieces of coded text), which were categorized under 237 quirks (titles). Each data source generated the following number of codes (Table 1).
Table 1
Number of quotes (coded text) per source
No.
|
Source
|
Quotes #
|
Objective/ Stage
|
1
|
HCPs_Needs analysis (open-ended questions)
|
26
|
Needs assessment
|
2
|
Patients_Needs analysis (open-ended questions)
|
211
|
Needs assessment
|
3
|
Meeting Minutes MOH-CARD
|
7
|
Needs assessment
|
4
|
CYMA Minutes - FINAL
|
14
|
Evaluation of intention
|
5
|
Patient interviews
|
279
|
Evaluation of intention
|
6
|
HCP interviews
|
408
|
Evaluation of intention
|
7
|
Posts on RARE-e-CONNECT (Patient stories)
|
363
|
Usage
|
8
|
Doctor -patient forum posts
|
13
|
Usage
|
9
|
HCPs forum posts
|
8
|
Usage
|
10
|
Patient forum posts
|
28
|
Usage
|
|
|
1357
|
|
The 1357 open codes were categorised under the 4 categories of performance expectancy, effort expectancy, social influence and enabling conditions, proposed by Venkatesh et al., (2003) [31] in the UTAUT framework and were also used to develop a discussion of the qualitative findings in the form of a storyline as per grounded theory principles. Concepts from Medicine 2.0 and Collective Intelligence were also used whenever appropriate [3] [14] [15] [21] [23] [25] [30]. Due to space constraints, we present here the more frequent open codes under each category.
With regard to the actual use of the system by Healthcare Professionals and patients/ families, our qualitative findings are summarized in Table 2 below.
Table 2
Selection of codes indicating actual system usage by patients/families and healthcare professionals, by frequency
1. Describing journey to diagnosis (frequency: 136/1357)
|
Late diagnosed; Nobody believed me; Sharing first signs and symptoms; doctors’ key role in breaking bad news; Distressing journey through differential diagnoses and process of elimination; Misdiagnosed, mistreated or not diagnosed locally
|
2. Being a mentor to others (frequency 147/1357 codes)
|
Need disease knowledge and psychological support that only a patient can offer; Sharing information about treatment; Don't ever think you are alone - Parents and patient fighters and winners; Coping mechanisms with the disease
|
3. Everyday challenges (frequency 145/1357 codes)
|
Talking about the discrimination they experience because of their disease; Diagnosis putting life on hold– work, school, studies, going abroad, leisure; Difficult to explain a disease that people cannot see; Sharing emergency experiences; Finding ways to communicate with non-verbal children; Helping rd children develop autonomy - long term
|
4. Specialists share expertise (frequency 12/1357 codes)
|
L-carnitine dosage to avoid unpleasant side effects; Carglumic acid for chronic hyperammonemia; Gene therapy options for IMD; Gene therapy for neuromuscular diseases; Why does the number IMDs increase over time?; What patients need to know about Primary Ciliary Dyskinesia; New therapies for Tourette; Genetics vs Clinical criteria of FMF; Emergency guidelines for rare diseases – Orphanet; Preimplantation Genetic Diagnosis; PIDs early detection - signs and symptoms
|
Each of the open codes under category 1 titled “Describing journey to diagnosis” contains instances in which patients/ families related an aspect of their journey to diagnosis. The codes under Category 2 titled “Being a mentor to others” contain instances where patients/families act as mentors to others relating lessons learned from experience with the condition. Each of the codes under category 3 titled “Everyday challenges” contains instances where patients/families related everyday challenges of living with the disease, providing awareness and self-help tips for others. Each of the codes under category 4 titled “Specialists share expertise” contains instances where specialists explain formal aspects of the disease to answer patients’ questions in the doctor-patient forum, inform about new therapies or share specialised information or locate colleagues for multidisciplinary collaboration e.g., psychologists in the professional forums. Laboratory scientists used the professional forums to share information about pre-natal genetic conditions and inform about new therapies being developed locally.
These qualitative findings showcase how the RARE-e-CONNECT network technology became a place for patients/ families to describe first signs and symptoms, as they experienced them. Many of them stressed how their “case wasn't a textbook case”, happening earlier than prescribed and so the doctors didn’t believe them, other stressed how doctors wrongly attributed signs and symptoms to prematurity and other factors. Very importantly, they used the platform to talk about their experience with new methods of genetic diagnosis, share concepts and experiences related to genetic conditions that may help break taboos typically related to being diagnosed with a genetic disease, receiving professional psychological support etc. (category 2). In category 3, the semantic link between the codes are the everyday challenges deriving by the condition. Patients/families talk about how the diagnosis puts life i.e., work, school, studies, leisure on hold, and creating multiple needs for coping mechanisms e.g., finding ways to communicate with non-verbal children and help them become more independent, developing life skills for when the parents will no longer be present.
HCPs’ usage of the system also had to do with first signs e.g., Genetics vs Clinical criteria of FMF. Laboratory scientists contributed knowledge on diagnostic and curative methods currently available or under development i.e., Preimplantation genetic diagnosis, gene therapy and ways of accessing them.
Overall, the findings in these 4 categories can be taken as an example of how patients (from their experience with the condition) and specialists sharing their expertise can create bulks of “decentralized” knowledge related to rare disease diagnosis to serve collective intelligence/understanding of rare diseases through public dissemination or organised research.
Performance expectancy
Performance expectancy is defined by Venkatesh et al. (2003) [31] as the degree to which the group believes that using the system will help them attain gains in job performance. There were 368 out of the 1357 total open codes that derived from our qualitative analysis referring to performance expectancy by HCPs and patients/families. A selection of these open codes is provided in Table 3 below. Each of these codes contains instances in which Healthcare professionals and patients indicated a way in which the platform could be compatible to their job and needs.
Table 3
Selection of open codes referring to performance expectancy, based on frequency
Performance expectancy of tool for Healthcare Professionals and patients/ families (frequency 368/1357 codes)
|
Raise suspicion - Increase GPs and specialists' awareness/knowledge on rare diseases: “Myth busting”; Comprehensive, easy to use and adaptable tool for networking and multidisciplinary collaborations; Information/discussions about ultra-rare diseases complex cases involving multiple autoimmune; The real added value would be Europeans coming in otherwise too small of a number for expertise to grow and patients to network; Original content/interaction you cannot find on websites; HCP learning from patient experience because the disease doesn't manifest in the same way for all patients; Large scale dissemination of specialised information; Needing to learn about new therapies/ clinical trials and how I can participate; Opportunity for patients to come out: Is my diagnosis rare?; Needing access to specialist repository by disease group and disease; Opportunity for patients to come out- work in progress
|
These instances could be taken to relate directly with findings from the usage of the platform as described above, particularly the instances where both groups perceived that using this network technology could help “Raise suspicion amongst first line professionals to facilitate timely diagnosis and lead 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”.
Healthcare professionals and patients also clearly called for original content/wealth of specialised information about unknown ultra-rare diseases (beyond what is easily available on the WWW) and “going beyond dry information available on websites”. For the HCPs in particular, “the real added value would be Europeans coming in “who are hard to find on the phone” to discuss complex cases where there is no expertise locally and for which the number of cases in small EU countries like Cyprus does not give the opportunity for the development of the required expertise.
The possibility, through this network technology platform to have large-scale dissemination of specialised information was particularly valued by all 3 groups for materialising the need of raising suspicion about rare diseases. This allowed us to draw conclusions on the objective usability [31] of this system in relation to other systems used by physicians and patients respectively.
From their perspective, patients/families deemed particularly important to have (ultra-rare) disease-related information in “layman terms” and “native language” to cope with the difficulty involved in understanding and processing complex medical terms from various sources and “not only from their doctor”. Professionals also acknowledged a significant gap in this area, seeing the network as an “opportunity to “lead informed decision-making”, with relevant and trustworthy health information shared beyond the hospital space (“apomediation”), [14]. For patients, perceived usefulness was also inextricably related to the ability to “share with people who know what they are talking about” and were able to give them “self-help tips” for managing the everyday of the disease, and practical information for, when travelling abroad for treatment for example. As expected, a major patient need was to ask other patients about specialists in Cyprus and/or abroad that they helped them with the condition.
HCPs’ demand with regards to the specialists’ finder was twofold: to have a repository with specialists in Cyprus to help them locate colleagues by specialty area and services and have this colleague finder be visible to patients as well (which was not entirely possible in the absence of national accreditations and no participation to the ERNs).
Effort expectancy
Effort expectancy is defined by Venkatesh et al., (2003) [31] as the degree of ease associated with the use of the system. There were 75 out of the 1357 total open codes that derived from our qualitative analysis referring to effort expectancy. A selection of open codes in this category is provided in Table 4 below. Each of these codes contains instances in which Healthcare professionals and patients indicated their perception of effort for using the network technology.
Table 4
Selection of open codes referring to effort expectancy, based on frequency
Effort expectancy (frequency 75/1357 codes)
|
Notifications to promote visibility of content; Ι see patients all day long at the office, I wouldn't want to keep receiving messages at night; People don't have time to write long texts; Need dedicated time for this within work schedule but I will do it; Video audio image modality; We need someone to organise us to do this; Interoperability with other platforms
|
This was important because despite the perceived ease of use of the technological configuration, it was found to be largely incompatible with the time demands of the workplace and personal life demanding 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. At the same time, the exclusively written modality supported by this network technology was found to add to the effort the participants perceived they had to put into participating.
From their perspective, patients and families identified the need to have “strong patient support groups to properly share specialised knowledge” indicating shortcomings in trained staff, digital infrastructure and knowledge. Nevertheless, a significant number of specialists and patients formulated plans to share specific content related to their specialisation later on. Venkatesh et al. (2003) [31] call this “behavioural intention” defined as “the degree to which a person has formulated conscious plans to perform or not to perform some specified future behaviour” and is aligned with factors such as the subjective norm (social influence), image, job relevance, output quality and result demonstrability.
Administrative support/community managers were clearly needed to identify meaningful content, organising and animating writing.
Social influence
Social influence is defined as the extent to which the individuals perceive that important others feel that they should use the new/target system [31] and is a very influential factor to the adoption of a new system. Deriving from our qualitative analysis, there were 129 open codes out of the 1357 total open codes referring to aspects of social influence affecting uptake and participation, a selection of which is provided in Table 5 below.
Table 5
Selection of open codes referring to social influence, based on frequency
Social influence (frequency 129/1357 codes)
|
Directing to colleagues indicating hierarchies and status-quo; Too small of a number for a health professional to focus on/ develop expertise; Perceived interest or lack of interest from important others; Fiefdoms - Individual thinking/practice; Immediacy of information and momentum; Some patients don't want to share about disease - Taboo
|
Each of these codes contains Instances with a semantic link to aspects of social influence i.e., mentality constructs, perceived interest or lack of interest from important others, taboo issues, incentivizing them to register and actively participate or not.
For HCPs, important others were their colleagues in Cyprus and also colleagues from Europe while important others for patients were other patients with the same diagnosis.
A particularly inhibiting factor identified by Healthcare Professionals and patients/ families was local mentality, perceived to be characterised by “Fiefdoms - Individual thinking/practice”, “hierarchies and existing status-quo” “Doctor know-it-all and patient doctor-needs-to-know-it-all mentality” and the stereotypical patient perception "Foreign doctors are never wrong". There were occasions where collective intelligence (responding to a patient and allowing all members to see response called for the need for private chatting to avoid problems with other doctors and possible misunderstandings.
The presence of taboos was also identified under this category, which patients and patient representatives acknowledged as impeding many patients to approach associations and/or openly talk about the disease, which was also evident in how the participants used the option of anonymity on the platform (see Table 8 in activity metrics). On some occasions, the lack of “immediacy in receiving information” was perceived by patients as directly related to taboo.
Enabling conditions
Venkatesh et al. (2003) [31] define enabling conditions as the degree to which an individual believes that an organizational and technical infrastructure exists to support use of the system and the determinants of any user behaviour.
In this research, there were 344 out of the 1357 total open codes deriving from our qualitative analysis that semantically linked to enabling or inhibiting conditions to network technology adoption. A selection of the most frequent open codes under this category are provided in Table 6 below.
Enabling conditions had to do with previous experience with networks, perception of enjoyment when using the system, aside from any performance consequences resulting from system use (which Venkatesh et al. 2003 call “hedonic pleasure”) [31], the presence of a policy framework, organizational and technical infrastructure to support use of the system. As Christensen and Mackinnon (2006) also argue, user characteristics and preferences are important determinants of use and uptake [7].
Each of the subcategories in Table 6 below contain the most frequent open codes of instances where Healthcare professionals and patients indicated how they felt enabled or inhibited from engaging in this network technology.
Table 6
Selective coding and frequency for enabling conditions
Enabling (or inhibiting) conditions (344/1357 codes)
|
1. Experience (frequency 84/1357 codes)
|
Previous experience connecting with other patients; Not only from my doctor: I communicate with specialists abroad for my child's needs; Experience with national networking platforms abroad; Lived experience with rare diseases/ERN collaboration abroad; Access but no real collaboration with ERNs up to now; Each patient case is different – Misinformation; Used to phone and email for my communications but this is not multidisciplinary collaboration; Experience with national networking platforms abroad (configuration of tools); Reading vs. contributing culture
|
2. Lack of “hedonic pleasure” (disease-related conditions) (frequency 44/1357 codes)
|
Psychological burden from negative aspects of disease; “We don’t want to talk about the disease all the time”; “If I had something I would know by now”; People usually come when they need something/ they are facing an emergency with regards to treatment / financial support
|
3. Indicating external to the technology variables determining their user behaviour (Policies) (frequency 94/1357 codes)
|
No departments/centres of expertise and patient pathways; Need for nationally-accredited diagnostic labs; Need telemedicine for follow ups in collaboration; Reimbursement of shared care; Unsure about legal aspects for sharing scientific information from networks
|
4. Indicating inherent and external to the technology variables determining their user behaviour (infrastructure) (frequency 95/1357 codes)
|
Difficult to create multidisciplinary teams because there is not enough expertise; Need basic supportive hospital structures to be able to participate: Not enough specialised staff for multidisciplinary teams leads clinician's extended role; Need strong patient support groups
|
Certainly, the degree to which HCPs and patients/families had previous experience using similar tools or were engaged in collaborative activities in a professional setting (i.e., ERNs, national networks abroad) affected the degree to which they shared content or made conscious plans of doing so, including transferring ERN related information into the local community, “provided that all policy and legal requirements were met”.
Also related to previous experiences determining behaviour towards this network technology and overall project, was the finding of HCPs who were hesitant to connect patients considering that “each patient case was different” and wanting to protect their patients from seeing cases of “frightening” deterioration of the disease, which might not happen in their case. This was also evident in the case of patients who had also previously participated in patient support groups and found that the disease manifestations were not the same in all patients and advised to cautiousness.
Also included in the category of enabling conditions were codes that referred to the emotional burden involved in sharing “disease-related information all the time”. These codes came exclusively from patients who stated, during interviews, that they “didn’t want to talk about the disease all the time. Interestingly also, comparing RARE-e-CONNECT to Facebook and social media platforms offering exposure to all kinds of material, disease-free able to offer enjoyment. This finding suggested that this network technology would not be used non-stop but, given its restricted scope to rare disease information, it would serve patients in emergency situations (“People usually come when they need something/ they are facing an emergency with regards to treatment / financial support”). It also suggested that it could be used as part of a configuration of tools e.g., phone and email to facilitate patient and professional pathway to information and collaboration, and would increase its meaningfulness and potential as content piles up, creating interoperability with other platforms and more facilitation mechanisms.
The presence of a compatible policy and organisational framework supporting the use of the system was also coded in our qualitative data. Specifically, HCPs that participated in our research stated that missing or insufficient expertise locally hindered networking possibilities and multidisciplinary collaborations; while “Not enough specialised staff to support clinical work i.e., nurses, genetic counsellors led to clinicians’ extended role leaving no time for other activities.
Policy-wise, formal accreditation of national centres of reference and regulations on telemedicine and shared care were quoted on multiple occasions by HCPs and patients alike to define content reliability and user activity on the platform. Specifically, HCPs and patients/families/patient representatives identified the need for meaningful policy making to establish:
(1) nationally-accredited diagnostic labs, departments/centres of reference/expertise, organised to timely and effectively handle rare disease emergencies, regulate patient referral procedures to specialists locally and, when needed, to European centres of expertise via the national coordinators.
(2) telemedicine and shared care regulations, including clear evaluation systems of expertise and quality of service, legal vesting for adopting therapeutic protocols and disseminating specialized knowledge from European networks, and clear mechanisms for shared care and reimbursement.
For patients/families and HCPs alike, telemedicine was clearly needed for following up on patients diagnosed and initially managed abroad and “establishing ways and infrastructures to ensure the development of national expertise” to accommodate the needs of the patient population as a whole” in the long run, saving resources and ensuring a viable health system in the long run.
The authors confirm that the data supporting the findings of this study are available within the article [and/or] its supplementary materials. The full sets of anonymised quotes are available from the corresponding author on reasonable request.
Activity metrics
Patients and HCPs with the below disease profile and specialisations registered on the RARE-e-CONNECT platform (Table 7).
Table 7
Patient profile
|
Healthcare professionals’ profile
|
Oral facial digital syndrome type 6 and Joubert Syndrome; CVID; Familial Amyloid Polyneuropathy; Oesofageal Achalasia; Erdheim-Chester syndrome; Myasthenia Gravis; Granulomatosis with polyangiitis (GPA/ Wegener), Familial Mediterranean Fever (FMF); INTERSTITIAL CYSTITIS; Cutaneous Mastocytosis (child); MIDD; ΝF1; (Glutaric Aciduria Type 1); Maple serum urine disease; OTC; PKU; Myelofibrosis; Emery Dreifuss Muscular Dystrophy; Generalised Dystonia; Still disease; Friedreich's ataxia; Relapsing Polychontritis and Ankylosing spondylitis; ADNP syndrome; Adrenal insufficiency (Addison disease); Alpha-1 antitrypsin deficiency; Amyloidosis (secondary); β-thalassaemia; Behcet Disease; BEST disease; Xeroderma Pigmentosum; Biliary atresia; BILU Syndrome; Carney-Stratakis Syndrome (Carney Triad); Charcot Marie Tooth, various types (CMT); CNM DNM2
Cold agglutinin disease; Complete achromatopsia 3; Congenital Muscle-Brain-Eye Disease; CPT II Myopathic Form; Cystic Fibrosis; Darier disease; Duchenne Muscular Dystrophy; Ehlers-Danlos Syndrome; Erythromelalgia; Familial Adenomatous Polyposis; Familial Mediterranean Fever; FSHD Muscular dystrophy; GPA Vasculitis; GABA transaminase deficiency; HNPP; IC (Interstitial Cystitis); Inherited Metabolic Diseases; Kleefstra syndrome; Laryngeal cleft; Limb-girdle muscular dystrophy; Loeys Dietz Type II; Lymphangioleiomyomatosis; Medullary thyroid cancer MEN2A associated; Meige syndrome; MIRAGE syndrome; Multiple sclerosis; Non-ketotic Hyperglycinemia; Ocular Motor Apraxia; Oesophageal Achalasia; Parry-Romberg syndrome; Primary Ciliary Dyskinesia or Kartagener syndrome; Psoriatic Arthritis; PSP - PROGRESSIVE SUPRANUCLEAR PALSY; Prader-Willi Syndrome; Raynaud disease; Spinal Muscular Atrophy (Type I); Tuberous Sclerosis; PFAPA syndrome; Thrombophilia; Von Hippel-Lindau disease; 48XXYY; Williams syndrome; Median arcuate ligament syndrome (MALS)
|
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
Molecular Genetics, Biochemical Genetics, Biology
Genetic counsellors, Clinical Psychology, Physiotherapy, Speech Therapy, Occupational Therapy, Clinical Nutrition, Social Work
|
Table 8 below indicates the ways patients/families and Healthcare professionals interacted with each feature of the platform.
Table 8
User behaviour in the timeframe of 23.09.2021 to 23.09.2022
Activity
|
Patients/ Families
|
Healthcare professionals
|
Registrations
|
251
|
210
|
Anonymity
|
Fully Anonymous 50
Semi Anonymous 139
Not Anonymous 62
|
N/A
|
Profile completion
|
126
|
106
|
Joined communities
|
240
|
151
|
Number of posts
|
84
|
24
|
Number of resources
|
9
|
1
|
Number of replies to posts
|
122
|
5
|
Number of patient stories
|
25
|
N/A
|
Number of replies to patient stories
|
7
|
N/A
|
Medical Teams (creation + colleagues)
|
N/A
|
23
|
Medical teams (request meeting)
|
N/A
|
0
|
Quantitatively, patients’ usage of the platform was significantly more than the usage of HCPs. Anonymity was important for patients, the majority of whom chose full or semi anonymity. Our criteria for anonymity were as follows: Fully anonymous: The participant has used a username and full name that doesn´t allow identification neither by other patient members of the platform nor the administrator; Semi-anonymous: The participant has used a username that contained only their first name, thus partly identifiable by the other members of the platform and the administrator or the participant has used their first name and last name with the administrator only; Not anonymous: the participant has used a username that contains both their first name and last name, thus identifiable by both other members and the administrator. The Healthcare professionals did embrace the possibility to state a username over full name, to promote the informality of the tool.
Preferences to anonymity were technically reinforced to maintain anonymity yet facilitate connection and interaction between patients and families and also Healthcare Professionals.