Bringing Communities Together: Mapping the Investigation-Study-Assay-Model (ISA) to Fast Healthcare Interoperability Resources (FHIR).

Adhering to FAIR principles (findability, accessibility, interoperability, reusability) ensures sustainability and reliable exchange of data and metadata. Research communities need common infrastructures and information models to collect, store, manage and work with data and metadata. The German initiative NFDI4Health created a metadata schema and an infrastructure integrating existing platforms based on different information models and standards. To ensure system compatibility and enhance data integration possibilities, we mapped the Investigation-Study-Assay (ISA) model to Fast Healthcare Interoperability Resources (FHIR). We present the mapping in FHIR logical models, a resulting FHIR resources' network and challenges that we encountered. Challenges mainly related to ISA's genericness, and to different structures and datatypes used in ISA and FHIR. Mapping ISA to FHIR is feasible but requires further analyses of example data and adaptations to better specify target FHIR elements, and enable possible automatized conversions from ISA to FHIR.

Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries.

INTRODUCTION: Rare disease patient data are typically sensitive, present in multiple registries controlled by different custodians, and non-interoperable. Making these data Findable, Accessible, Interoperable, and Reusable (FAIR) for humans and machines at source enables federated discovery and analysis across data custodians. This facilitates accurate diagnosis, optimal clinical management, and personalised treatments. In Europe, twenty-four European Reference Networks (ERNs) work on rare disease registries in different clinical domains. The process and the implementation choices for making data FAIR ('FAIRification') differ among ERN registries. For example, registries use different software systems and are subject to different legal regulations. To support the ERNs in making informed decisions and to harmonise FAIRification, the FAIRification steward team was established to work as liaisons between ERNs and researchers from the European Joint Programme on Rare Diseases. RESULTS: The FAIRification steward team inventoried the FAIRification challenges of the ERN registries and proposed solutions collectively with involved stakeholders to address them. Ninety-eight FAIRification challenges from 24 ERNs' registries were collected and categorised into "training" (31), "community" (9), "modelling" (12), "implementation" (26), and "legal" (20). After curating and aggregating highly similar challenges, 41 unique FAIRification challenges remained. The two categories with the most challenges were "training" (15) and "implementation" (9), followed by "community" (7), and then "modelling" (5) and "legal" (5). To address all challenges, eleven types of solutions were proposed. Among them, the provision of guidelines and the organisation of training activities resolved the "training" challenges, which ranged from less-technical "coffee-rounds" to technical workshops, from informal FAIR Games to formal hackathons. Obtaining implementation support from technical experts was the solution type for tackling the "implementation" challenges. CONCLUSION: This work shows that a dedicated team of FAIR data stewards is an asset for harmonising the various processes of making data FAIR in a large organisation with multiple stakeholders. Additionally, multi-levelled training activities are required to accommodate the diverse needs of the ERNs. Finally, the lessons learned from the experience of the FAIRification steward team described in this paper may help to increase FAIR awareness and provide insights into FAIRification challenges and solutions of rare disease registries.

Domain-Specific Common Data Elements for Rare Disease Registration: Conceptual Approach of a European Joint Initiative Toward Semantic Interoperability in Rare Disease Research.

BACKGROUND: With hundreds of registries across Europe, rare diseases (RDs) suffer from fragmented knowledge, expertise, and research. A joint initiative of the European Commission Joint Research Center and its European Platform on Rare Disease Registration (EU RD Platform), the European Reference Networks (ERNs), and the European Joint Programme on Rare Diseases (EJP RD) was launched in 2020. The purpose was to extend the set of common data elements (CDEs) for RD registration by defining domain-specific CDEs (DCDEs). OBJECTIVE: This study aims to introduce and assess the feasibility of the concept of a joint initiative that unites the efforts of the European Platform on Rare Disease Registration Platform, ERNs, and European Joint Programme on Rare Diseases toward extending RD CDEs, aiming to improve the semantic interoperability of RD registries and enhance the quality of RD research. METHODS: A joint conference was conducted in December 2020. All 24 ERNs were invited. Before the conference, a survey was communicated to all ERNs, proposing 18 medical domains and requesting them to identify highly relevant choices. After the conference, a 3-phase plan for defining and modeling DCDEs was drafted. Expected outcomes included harmonized lists of DCDEs. RESULTS: All ERNs attended the conference. The survey results indicated that genetic, congenital, pediatric, and cancer were the most overlapping domains. Accordingly, the proposed list was reorganized into 10 domain groups and recommunicated to all ERNs, aiming at a smaller number of domains. CONCLUSIONS: The approach described for defining DCDEs appears to be feasible. However, it remains dynamic and should be repeated regularly based on arising research needs.

SMS education for the promotion of diabetes self-management in low & middle income countries: a pilot randomized controlled trial in Egypt.

BACKGROUND: Due to the ubiquity of mobile phones in low and middle income countries, we aimed to examine the feasibility of SMS education among diabetic patients in Egypt, and assess the impact of educational text messages, compared to traditional paper-based methods, on glycemic control and self-management behaviors. METHODS: We conducted a 12-week randomized controlled trial at Misr University for Science & Technology hospital in Cairo-Egypt. Known as MUST diabetes awareness program, patients were included if they had diabetes, owned a mobile phone, and could read SMS messages or lived with someone that could read for them. Intervention patients received daily messages and weekly reminders addressing various diabetes care categories. We expected greater improvement in their glycemic control compared to controls who only received paper-based educational material. The primary outcome was the change in HbA1c, measured by the difference between endpoint and baseline values and by the number of patients who experienced at least 1% reduction from baseline to endpoint. Key secondary outcomes included blood glucose levels, body weight, treatment and medication adherence, self-efficacy, and diabetes knowledge. Data were analyzed using ANCOVA, chi-square, and t-tests. RESULTS: Thirty four intervention and 39 control patients completed the study. Over 12 weeks, 3880 messages were sent. Each intervention patient received 84 educational and 12 reminder messages plus one welcome message. Our primary outcome did not differ significantly (Δ 0.290; 95% CI -0.402 to 0.983; p = 0.406) between groups after 3 months, demonstrating a mean drop of -0.69% and -1.05% in the control and intervention group respectively. However, 16 intervention patients achieved the targeted 1% drop versus only 6 controls, suggesting clear association between study group and 1% HbA1c reductions (chi-square = 8.655; df = 1; p = 0.003). Secondary outcomes seemed in favor of intervention patients at endpoint, with considerable improvements in treatment and medication adherence, self-efficacy, and knowledge scores. Participants also indicated full satisfaction with the program. CONCLUSIONS: SMS education is a feasible and acceptable method for improving glycemic control and self-management behaviors among Egyptian diabetics. However, whether it is more effective than traditional paper-based methods needs further investigation. TRIAL REGISTRATION: ClinicalTrials.gov NCT02868320 . Registered 9 August 2016. Retrospectively registered.

mHealth Application Areas and Technology Combinations*. A Comparison of Literature from High and Low/Middle Income Countries.

BACKGROUND: With the continuous and enormous spread of mobile technologies, mHealth has evolved as a new subfield of eHealth. While eHealth is broadly focused on information and communication technologies, mHealth seeks to explore more into mobile devices and wireless communication. Since mobile phone penetration has exceeded other infrastructure in low and middle-income countries (LMICs), mHealth is seen as a promising component to provide pervasive and patient-centered care. OBJECTIVES: The aim of our research work for this paper is to examine the mHealth literature to identify application areas, target diseases, and mHealth service and technology types that are most appropriate for LMICs. METHODS: Based on the 2011 WHO mHealth report, a combination of search terms, all including the word "mHealth", was identified. A literature review was conducted by searching the PubMed and IEEE Xplore databases. Articles were included if they were published in English, covered an mHealth solution/ intervention, involved the use of a mobile communication device, and included a pilot evaluation study. Articles were excluded if they did not provide sufficient detail on the solution covered or did not focus on clinical efficacy/effectiveness. Cross-referencing was also performed on included articles. RESULTS: 842 articles were retrieved and analyzed, 255 of which met the inclusion criteria. North America had the highest number of applications (n=74) followed by Europe (n=50), Asia (n=44), Africa (n=25), and Australia (n=9). The Middle East (n=5) and South America (n=3) had the least number of studies. The majority of solutions addressed diabetes (n=51), obesity (n=25), CVDs (n=24), HIV (n=18), mental health (n=16), health behaviors (n=16), and maternal and child's health (MCH) (n=11). Fewer solutions addressed asthma (n=7), cancer (n=5), family health planning (n=5), TB (n=3), malaria (n=2), chronic obtrusive pulmonary disease (COPD) (n=2), vision care (n=2), and dermatology (n=2). Other solutions targeted stroke, dental health, hepatitis vaccination, cold and flu, ED prescribed antibiotics, iodine deficiency, and liver transplantation (n=1 each). The remainder of solutions (n=14) did not focus on a certain disease. Most applications fell in the areas of health monitoring and surveillance (n=93) and health promotion and raising awareness (n=88). Fewer solutions addressed the areas of communication and reporting (n=11), data collection (n=6), telemedicine (n=5), emergency medical care (n=3), point of care support (n=2), and decision support (n=2). The majority of solutions used SMS messaging (n=94) or mobile apps (n=71). Fewer used IVR/phone calls (n=8), mobile website/email (n=5), videoconferencing (n=2), MMS (n=2), or video (n=1) or voice messages (n=1). Studies were mostly RCTs, with the majority suffering from small sample sizes and short study durations. Problems addressed by solutions included travel distance for reporting, self-management and disease monitoring, and treatment/medication adherence. CONCLUSIONS: SMS and app solutions are the most common forms of mHealth applications. SMS solutions are prevalent in both high and LMICs while app solutions are mostly used in high income countries. Common application areas include health promotion and raising awareness using SMS and health monitoring and surveillance using mobile apps. Remaining application areas are rarely addressed. Diabetes is the most commonly targeted medical condition, yet remains deficient in LMICs.

SMS Education for the Promotion of Diabetes Self-Management in Low & Middle Income Countries: A Randomized Controlled Trial in Egypt.

Aiming to assess the impact of SMS messages on glycemic control and self-management, we conducted a 12-week RCT at MUST hospital in Cairo-Egypt. Outcomes included change in HbA1c, BG levels, treatment and medication adherence, self-efficacy, and diabetes knowledge. 34 intervention and 39 control patients completed the study. HbA1c did not differ significantly (p = 0.406) between groups but secondary outcomes varied considerably. The effectiveness of SMS over paper-based methods still needs further investigation.