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Table 7 Summary for clinical usage – CDSSs using comparison of genetic and phenotypic data

From: Diagnosis of Rare Diseases: a scoping review of clinical decision support systems

CDSSs using comparison of genetic and phenotypic data • DECIPHER [33]
• GeneMatcher [27]
• GeneYenta [28]
• Matchmaker Exchange [30]
• PhenomeCentral [34]
• PhenoTips [32]
• Phenomizer [22]
• PhenoDB [23]
• GenomeConnect [25]
Development status and system availability • DECIPHER, GeneMatcher, GeneYenta, Matchmaker Exchange, PhenomeCentral, GenomeConnect: Fully developed system. The system can be used online and free, subject to registration
• PhenoDB, PhenoTips: Fully developed System. The system can be downloaded, subject to registration
• Phenomizer: Fully developed system. The system can be used online and free, no registration necessary
Type of clinical data • DECIPHER, GeneMatcher, PhenoDB, GenomeConnect: Phenotypic and genetic data
• GeneYenta, Phenomizer: Phenotypic data
• Matchmaker Exchange, PhenoTips, PhenomeCentral: Phenotypic, genetic and clinical data
Rare Diseases covered • DECIPHER, GeneMatcher, GeneYenta, Matchmaker Exchange, PhenomeCentral, PhenoTips, Phenomizer, PhenoDB, GenomeConnect: All rare diseases
Data entry and integration • DECIPHER, PhenomeCentral, PhenoDB, GenomeConnect, PhenoTips: Data entry with forms and data upload is possible
• GeneMatcher, GeneYenta, Phenomizer: Data entry is possible with forms
• Matchmaker Exchange, DECIPHER, GeneMatcher, PhenomeCentral, PhenoTips: REST API available
Last software update • DECIPHER, GeneMatcher, GeneYenta, Phenomizer, PhenoDB, GenomeConnect: No information available
• Matchmaker Exchange: Version 1.1, 20th of August 2019
• PhenomeCentral: Version 1.2.0, 14th of August 2019
• PhenoTips: Version 1.4.7, 17 h of May 2019
Clinical usage • DECIPHER: 270 centres, 36.000 patient cases
• GeneMatcher: 8807 users from 90 countries
• GeneYenta: No information available
• Phenomizer: No information available
• PhenoDB: No information available
• Matchmaker Exchange: Information about connected platforms are available (see https://www.matchmakerexchange.org/statistics.html)
• PhenomeCentral: 10.000 patient cases
• PhenoTips: Used in over 60 countries
• GenomeConnect: No information available