Partnership to advance genomic interpretation

Charity nonprofit Genetic Alliance and bioinformatics company enGenome have collaborated to expand access to advanced genomic interpretation for rare disease.

“We are keen to demonstrate how our technology can support clinical interpretation workflows and contribute to equitable access to genomic diagnostics worldwide,” said enGenome CEO Ettore Rizzo.

Through the partnership, enGenome will provide access to eVai, its AI-guided genomic interpretation platform that classifies and prioritises human genomic variants. The platform supports diagnostic laboratories in delivering clinical-grade genomic interpretation.

The collaboration began when Dubai Health, which was already using enGenome’s platform within its own clinical genomics workflow, introduced enGenome to Genetic Alliance.

“One of the greatest strengths of our global network is that our partners don’t just provide testing—they help shape the programme by sharing expertise and introducing innovative solutions,” said Erin Venti, MS, CGC, director of clinical programmes at Genetic Alliance.

“We’re grateful to both Dubai Health and enGenome for helping extend that benefit to laboratories across our network, ultimately supporting more patients and families seeking answers.”

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Saskia Henn is a digital journalist at Scientist Live and editor of International Mining Engineer magazine. With a background in marine technology and news, she joined Setform in 2024 as a staff writer and enjoys writing across all of the company's magazines. Saskia holds a BA in Communication Science from the University of Amsterdam and an MA in Journalism from the University of London, Goldsmiths.
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