enGenome and Genetic Alliance Partner to Expand Access to Advanced Genomic Interpretation for Rare Disease

Collaboration will extend access to enGenome’s interpretation platform across the global rare disease genomics network.

DAMASCUS, MD, UNITED STATES, August 6, 2026 /EINPresswire.com/ -- Genetic Alliance and enGenome today announced a collaboration to expand access to advanced genomic interpretation within Genetic Alliance’s global rare disease genomics program. Through the partnership, enGenome will provide in-kind access to eVai, its AI-guided genomic interpretation platform, that rapidly and accurately classifies and prioritizes human genomic variants, supporting diagnostic laboratories in delivering efficient and standardized clinical-grade genomic interpretation.

The collaboration began when Dubai Health, the network’s first laboratory partner in the Middle East, recognized that enGenome’s platform could benefit other laboratories participating in RISE. Dubai Health was already using enGenome within its own clinical genomics workflow and introduced Genetic Alliance to the company to explore a broader partnership.

As the network grows, participating laboratories contribute more than testing capacity. They also bring experience with technologies, platforms, and workflows that can strengthen the network as a whole. By making its interpretation platform available as an in-kind contribution, enGenome is helping build the shared infrastructure needed to expand equitable access to clinical genomic diagnostics.

"One of the greatest strengths of our global network is that our partners don't just provide testing—they help shape the program by sharing expertise and introducing innovative solutions," said Erin Venti, MS, CGC, Director of Clinical Programs 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.”

"We're looking forward to supporting Dubai Health's participation in Genetic Alliance's global rare disease genomics program and to introduce eVai to their international community of genomic laboratories," said Ettore Rizzo, CEO of enGenome. "We are keen to demonstrate how our technology can support clinical interpretation workflows and contribute to equitable access to genomic diagnostics worldwide."

By bringing together clinical laboratories, technology developers, healthcare providers, and nonprofit organizations, Genetic Alliance continues to build a collaborative ecosystem that expands equitable access to genomic medicine. The network now encompasses 26 clinical sites, nine laboratories, and two software companies, in 19 countries. The partnership with enGenome demonstrates how knowledge sharing within the network can catalyze new collaborations that benefit patients around the world.

About Genetic Alliance
Genetic Alliance is a nonprofit health advocacy organization that works to ensure people, families, and communities are full partners in genetics, genomics, research, and healthcare. Founded in 1986, Genetic Alliance develops practical systems that connect individuals with diagnosis, care, support, research, and control of their own health data.

Genetic Alliance provides clinical genomic testing at no cost to undiagnosed children in under-resourced communities in the United States and low- and middle-income countries. Genetic Alliance connects families with results, care, support, research opportunities, and potential therapies through an international network of clinical sites, laboratories, technology partners, and community organizations.
For more information, visit www.geneticalliance.org.

About enGenome
enGenome is an Italian bioinformatics company with a decade in the market developing software solutions for genomic interpretation to laboratories worldwide.

Its flagship platform, eVai, is a secure, CE-IVDR certified solution that supports automated variant classification, phenotype-driven prioritization, and clinical reporting. Built to clinical-grade standards with ISO, HIPAA, and GDPR compliance, eVai helps diagnostic laboratories deliver efficient and consistent genomic interpretation. The company also offers VarChat, an open-access platform and the first GenAI assistant for genomic variants, designed to retrieve up-to-date scientific literature and condense it into brief, informative summaries.

For more information, visit www.engenome.com

Sharon Terry
Genetic Alliance
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