enGenome and the EIC Accelerator: Rare Disease Genomics That Pays

Sequencing a patient's genes is the easy part of diagnosing a genetic disease; working out which variant is to blame is hard. According to the EU project enGenome won, only about half of genetic disorders get a diagnosis. The Pavia company, a University of Pavia spin-off founded in 2016, sells eVai, software that classifies a patient's variants and suggests a diagnosis, and that also looks at combinations of variants in two or more genes, which most tools leave out.

The European Innovation Council granted €1,682,537.51 towards a €2.40 million project to bring that capability to market. It did: eVai added digenic and oligogenic interpretation, won certification under the EU's in vitro diagnostics rules, and the company's revenue went from €864,000 in 2023 to €3.7 million in 2025, with a profit in every year.

Where enGenome Stands Today

In March 2026 enGenome announced that eVai had been certified as a Class C device under the EU In Vitro Diagnostic Regulation, building on its earlier CE-IVD status. Marking its tenth anniversary in January 2026, the company said it serves clinical diagnostic laboratories in more than 20 countries, and listed integrations of its VarChat literature tool with the UCSC Genome Browser and MobiDetails in 2025.

The Italian accounts show a small company growing quickly and profitably. According to reportaziende.it, revenue was €863,600 in 2023, €1.8 million in 2024 and €3.7 million in 2025, with net profits of €254,100, €233,000 and €896,300. Ufficiocamerale gives the same 2024 figures, €1,780,556 revenue and €233,028 profit, with 10 to 15 employees.

The Technology: Looking Beyond Single Genes

Most variant interpretation assumes one faulty gene causes a disease. eVai also scores pairs and larger combinations of variants across genes, the digenic and oligogenic cases, using a method enGenome has patented. The company describes it as "the first and only monogenic, digenic and oligogenic variant interpreter available on the market" in its CORDIS report. Its approach was published in NAR Genomics and Bioinformatics in 2025, and the company says eVai was the best-performing predictor in the CAGI6 genome interpretation challenge.

What the EIC Project Promised, and What CORDIS Shows

The project ran from April 2022 to March 2024. The CORDIS report says eVai now processes raw sequencing data, interprets single, digenic and oligogenic variants, and suggests diagnoses with AI; that two free companion resources, OliVer and VarChat, were released; that validation used public and real clinical datasets with hospital partners; and that two patents were granted in Italy, with applications in Europe, the US and China. It expected IVDR and ISO 13485 certification by the end of 2024; IVDR certification was announced in March 2026.

1. Oligogenic interpretation on the marketDeliveredLaunched in eVai; method published in 2025.
2. Clinical validationDeliveredPublic and hospital datasets, per CORDIS.
3. IVDR certificationDelivered lateExpected by end 2024; announced March 2026.
4. Commercial growthDeliveredRevenue up more than fourfold from 2023 to 2025.

What Has Happened Since the Award

The Money

We found no announced venture round. The award was "grant first", under which any EIC equity is decided later, and we found no EIC Fund investment.

Why Europe Should Care

Rare disease diagnosis depends on software that clinical labs can trust and regulators accept. An IVDR-certified European tool, built at an Italian university and sold across Europe, keeps an important piece of genomic medicine in European hands, and its free companion tools serve the wider research community.

The Verdict

enGenome has not been asked for comment for this article. It is based entirely on public records, company statements and EU project data, linked throughout.