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

The Matchmaker Exchange (MME) launched in 2015 to provide a robust mechanism to discover novel disease-gene relationships. This federated network connects databases holding relevant data, where two or more users are looking for a match for the same gene (two-sided matchmaking). The number of unique genes present across MME has steadily increased; there are currently >13,520 unique genes (~68% of all protein coding genes) connected across MME’s nodes, GeneMatcher, DECIPHER, PhenomeCentral, MyGene2, seqr, Initiative on Rare and Undiagnosed Disease, PatientMatcher, and the RD-Connect Genome-Phenome Analysis Platform. The dataset accessible across MME includes more than 120,000 cases from over 12,000 contributors in 98 countries. Discovery of potential new disease-gene relationships occurs daily and international collaborations are moving these connections forward to publication. Expansion of data sharing into routine clinical practice has ensured access to discovery for even more individuals with undiagnosed rare genetic disease. MME supports connections to the literature (PubCaseFinder) and to human and model organism resources (Monarch Initiative) and scientists (ModelMatcher). Efforts are underway to explore additional approaches to matchmaking where there is only one querier (one-sided matchmaking). Genomic matchmaking has proven its utility over the past 7 years and will continue to facilitate discoveries in years to come.