International Undiagnosed Diseases Programs (UDPs): components and outcomes

Table 5 Summary of data sharing methods used in Undiagnosed Diseases Programs

Undiagnosed diseases program	Sharing to Matchmaker Exchange	Sharing with UDNI	Other
Australia (Victoria) [26]	Yes
Belgium [31]	Yes via GeneMatcher, PhenomeCentral	Yes	Submission to Solve-RD
Canada [25]	Yes via PhenomeCentral		Genomics4RD, ClinVar, Leiden Open Variation Database
Europe [36]	Yes via RD-Connect		European Genome-Phenome Archive
Italy [30]	Yes via PhenomeCentral	Yes
Japan [34]	Yes via the Initiative on Rare and Undiagnosed Diseases Exchange		Initiative on Rare and Undiagnosed Diseases Exchange
Korea [27]	Yes via GeneMatcher, MyGene2
Singapore [24]	Yes via GeneMatcher
Spain [28]	Yes via RD-Connect, PhenomeCentral	Yes
Sweden [33]	Yes	Yes	ClinVar, Beacon
UK [32]	Yes via GeneMatcher*
US	Yes via PhenomeCentral [14], GeneMatcher, MyGene2 [20]	Yes [11]	Social media participant pages [14], Database of Genotypes and Phenotypes, ClinVar [17]

MME node included where provided, updated list of nodes accessed at www.matchmakerexchange.org
^*The UK study only reports use of GeneMatcher to investigate candidate genes rather than to share results
MME Matchmaker Exchange, RD Rare disease, UDNI Undiagnosed Diseases Network international

ISSN: 1750-1172