The impact of GeneMatcher on international data sharing and collaboration

Abstract

GeneMatcher (https://genematcher.org) is a tool designed to connect individuals with an interest in the same gene. Now used around the world to create collaborations and generate the evidence needed to support novel disease gene identification, GeneMatcher is a founding member of the Matchmaker Exchange (MME; https://matchmakerexchange.org) and strongest possible advocate for global data sharing including those in resource‐limited environments. As of October 1, 2021, there are 12,531 submitters from 94 countries who have submitted 58,134 submissions with 13,498 unique genes in the database. Among these genes, 8970 (64%) have matched at least once and the total number of matches is 378,806, growing by about 10,000 per month. GeneMatcher submitters increase by 80–120 each month and submissions grow by >800 per month, while unique genes and gene matches continue to grow steadily at rate of about 80 per month. The number of genes without a match peaked at 4371 in February of 2019 and despite the increase in the number of new submissions, the number of unique genes without a match continues to slowly decline, currently standing at 4,016. All submissions in GeneMatcher are available for matching across the MME.

The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

“…Internal usage allows matchmaking only between data sets within the platform, empowering users to identify similar cases both in terms of phenotype and the variants they carry, thus facilitating confirmation of causality and case resolution. External usage currently permits bidirectional communication with four MME nodes: PhenomeCentral (Osmond et al, 2022), Decipher (Foreman et al, 2022), GeneMatcher (Hamosh et al, 2022), and MyGene2 (https://mygene2.org/ MyGene2/).…”

Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking

“…Several of the MME nodes have implemented additional features to help users track the large number of matches that currently require follow‐up, such as those described for seqr (Pais et al, 2022), PhenomeCentral (Osmond, Hartley, Johnstone, et al, 2022), and GeneMatcher (Hamosh et al, 2022) including auto‐drafting emails as well as tracking match details, communications and the outcomes of matches within the database. An expanded use case for the MME is the secondary accumulation of additional cases after the initial publication of a novel disease gene relationship.…”

“…GeneMatcher (Hamosh et al, 2022) including auto-drafting emails as well as tracking match details, communications and the outcomes of matches within the database. An expanded use case for the MME is the secondary accumulation of additional cases after the initial publication of a novel disease gene relationship.…”

“…However, for many interested parties, they are lacking the means and opportunity to contribute this type of comprehensive data so use GeneMatcher (Sobreira et al, 2015) which has the lowest barrier to entry into the MME. As a result, GeneMatcher is the most widely used node of the MME with 11,780 submitters (Hamosh et al, 2022).…”

“…When the MME federated network was launched in 2015, it connected three matchmaking services (nodes; Philippakis et al, 2015): DECIPHER (DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources; Foreman et al, 2022), GeneMatcher (Hamosh et al, 2022) and PhenomeCentral (Osmond, Hartley, Johnstone, et al, 2022). Since that time, the network (Figure 2) has grown to include five additional genomic matchmaking nodes: MyGene2 (Chong et al, 2016), seqr (Pais et al, 2022), Initiative on Rare and Undiagnosed Disease (IRUD; Adachi et al, 2017), PatientMatcher (Rasi et al, 2022), and the RD‐Connect Genome‐Phenome Analysis Platform (GPAP; Laurie et al, 2022; Table 1).…”