Case Study: Di Venere Hospital diagnoses rare diseases faster with enGenome eVai on AWS Glue

Di Venere Hospital Diagnoses Rare Diseases Faster Using enGenome eVai on AWS

Di Venere Hospital, a regional medical center in Carbonara di Bari, Italy, struggled to analyze the large volumes of genetic test data generated for rare disease diagnosis. The hospital needed a faster, more accurate way to identify disease-causing variants, and AWS Glue was part of the AWS stack supporting data integration for the enGenome eVai application.

Using eVai on AWS, with AWS Glue helping collect and integrate data, Di Venere Hospital was able to speed up variant analysis from about 50 hours per patient to just a few hours and reduce errors. The solution increased diagnostic yield by 12.5%, shortened the average diagnosis time for rare diseases from 7–8 years to 1 month, improved testing throughput by 10x, and helped deliver an estimated €80,000 in savings per patient.

Di Venere Hospital

Romina Ficarella

Senior Medical Geneticist