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Matchmaking is an increasingly important strategy to help link rare diseases to genetic variants. These tools allow clinicians and researchers to search across previously siloed databases, clinics, and laboratories and access data about the potential genetic underpinnings of undiagnosed rare diseases across international boundaries. But to date there hasn’t been much research on the user experience.
On this month’s GenePod, a team of researchers in Canada used the Matchmaker Exchange to investigate 194 novel candidate genes from previously undiagnosed patients. The results returned over 1500 matches and 15% of these resulted in collaborations, but the system is labor-intensive. Kym Boycott, professor of pediatrics at the University of Ottawa, discusses how the results of the study point to needed improvements in the matchmaking system.