Abstract:At the outset of this project, one aim was to define a set of core data fields to include in all neurological registries in Canada. This project targeted neurological registries in Canada for all priority neurological conditions identified in the call for proposal including: Alzheimer's disease (AD) and other dementias, amyotrophic lateral sclerosis (ALS), brain tumours, cerebral palsy (CP), dystonia, epilepsy, Huntington's disease (HD), hydrocephalus, multiple sclerosis (MS), muscular dystrophy (MD), Parkinso… Show more
“…Completed DCDE lists were planned to be sent to medical experts for review using a structured feedback method, allowing them to rate an arranged set of statements designed to indicate the relevance of each DCDE within a certain domain group. To ease the adoption of identified DCDEs by all RD registries, it was initially recommended that the rating statements address the following aspects: (1) importance of each DCDE for the integrity of a registry within a certain domain group, (2) reliability of data collection in each DCDE, (3) necessity of a DCDE for the analysis of the primary outcome of the registry, and (4) the time and cost required to collect each DCDE [ 14 ]. Other categories that might arise in discussions during or after the conference were also to be incorporated.…”
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.
“…Completed DCDE lists were planned to be sent to medical experts for review using a structured feedback method, allowing them to rate an arranged set of statements designed to indicate the relevance of each DCDE within a certain domain group. To ease the adoption of identified DCDEs by all RD registries, it was initially recommended that the rating statements address the following aspects: (1) importance of each DCDE for the integrity of a registry within a certain domain group, (2) reliability of data collection in each DCDE, (3) necessity of a DCDE for the analysis of the primary outcome of the registry, and (4) the time and cost required to collect each DCDE [ 14 ]. Other categories that might arise in discussions during or after the conference were also to be incorporated.…”
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.
“…In addition, one of the most difficult aspects of sharing data across studies relates to mapping the assessment information into a common framework. Indeed, the development of common data elements for various domains is the focus of much research [ 4 - 6 ]. Secondly, the type of data shared ranges from higher to lower information density from time series data (e.g., an fMRI data set), to contrast or connectivity maps, to coordinates and peaks (e.g., tables in a journal article).…”
Section: Reviewmentioning
confidence: 99%
“…COINS provides a multitude of tools to maximize the efficiency and minimize the errors associated with collecting both assessment and neuroimaging data [ 11 , 12 ], and also provides tools to easily enable the sharing of data from within this framework [ 13 ]. Tools such as those in COINS are important not only to collect quality data, but also to encourage adoption of common data elements that enable mapping of assessment and clinical information in addition to imaging information between studies [ 4 - 6 , 14 ] (see Figure 2 ). Figure 2 Examples of question types included in COINS.…”
Efforts to expand sharing of neuroimaging data have been growing exponentially in recent years. There are several different types of data sharing which can be considered to fall along a spectrum, ranging from simpler and less informative to more complex and more informative. In this paper we consider this spectrum for three domains: data capture, data density, and data analysis. Here the focus is on the right end of the spectrum, that is, how to maximize the information content while addressing the challenges. A summary of associated challenges of and possible solutions is presented in this review and includes: 1) a discussion of tools to monitor quality of data as it is collected and encourage adoption of data mapping standards; 2) sharing of time-series data (not just summary maps or regions); and 3) the use of analytic approaches which maximize sharing potential as much as possible. Examples of existing solutions for each of these points, which we developed in our lab, are also discussed including the use of a comprehensive beginning-to-end neuroinformatics platform and the use of flexible analytic approaches, such as independent component analysis and multivariate classification approaches, such as deep learning.
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.
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