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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