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

Di Venere Hospital in Carbonara di Bari in Italy was challenged by the amount of data generated by genetic tests it conducted on patients. Processing the data and analyzing it consumed a great deal of its clinicians’ time. This was a major concern as genetic diseases are often difficult to detect and, without proper analysis, can go undetected for years. This can lead to delayed treatment and worse patient outcomes. The hospital needed a way to quickly and accurately interpret the huge volume of data that genetic testing was generating. The solutions it was looking at couldn’t sort the data in the way Di Venere needed. When researchers from thehospital discovered AWS Partner enGenome at a conference, it found an AI powered solution that enabled it to improve diagnostic yield by 12.5 percent.

For patients with rare diseases, the path to diagnosis can be particularly long and difficult. This diagnostic journey is often filled with inconclusive tests and dead ends that result in years of immense frustration and uncertainty for patients and their families. Genetic testing has helped staff at Di Venere Hospital diagnose diseases but it presents its own burden, with huge amounts of data generated by DNA testing. “The challenge with genetic testing is finding the specific information we need in the tests,” says Dr. Romina Ficarella, senior medical geneticist at Di Venere. “Finding the variants that identify a disease is time consuming with all that data.” 

Variants are a permanent change in the DNA sequence that makes up a gene. They were often previously referred to as mutations. Most variants do not cause harm, but certain ones are associated with diseases and genetic conditions. A clinician may need to look at over 100 variants to find markers of disease. That can easily represent 50 hours for each patient just to find one variant. Di Venere Hospital wanted to cut the time required and reduce the errors that can come from human analysis. It was looking for technology that could help.

Technology solutions in the medical sector are mission critical. Errors can, at best, delay treatment. At worst, they can result in misdiagnoses, the wrong course of treatment, or cause harm. Di Venere wanted to improve the speed of data analysis with accuracy and reliability. When Ficarella attended a conference presented by the Italian Society of Human Genetics (SIGU), she saw a promising application called eVai.

Developed by Italian independent software vendor (ISV) and Amazon Web Services (AWS) Partner, enGenome, eVai uses AI to help it search DNA testing results, turning up the most relevant based on the parameters set by the researcher. “The demo impressed me because enGenome were doing just what we needed,” says Ficarella. “There are many different ways to analyze and sort variants. We wanted to use pathogenetic score—the likelihood of causing disease—to identify variants, which the software supported. This ability really impressed us.”

AWS services are the backbone of eVai, making it an efficient and reliable platform. These include Amazon Elastic Compute Cloud (Amazon EC2), a web service that provides secure, resizable compute capacity in the cloud. It also uses AWS Lambda, a serverless compute service that executes code in response to events, automatically handling compute resources. Amazon Simple Storage Service (Amazon S3) can store and protect any amount of data for a range of use cases, such as data lakes, websites, cloud-native applications, backups, archive, machine learning, and analytics, a crucial capability for enGenome. 

To collect and integrate data, enGenome uses AWS Glue, a serverless data integration service that makes it easier to discover, prepare, move, and integrate data from multiple sources for analytics, machine learning (ML), and application development. “These AWS services enable us to process complex genetic data at scale, ensuring everything runs smoothly,” says Ivan Limongelli, chief technology officer at enGenome. “Our clients get fast and accurate results they can trust. These tools also give us the flexibility to innovate and improve, which is essential to meet the ever-changing needs of the market.”

Di Venere began working with enGenome to implement and test eVai. enGenome is an accredited spin-off of Italy’s University of Pavia, founded in 2016. With a multidisciplinary team of engineers, biotechnologists, and developers and with a focus on genomics, the company understood what was important to eVai. “What DiVenere wanted meshed perfectly with our vision,” says Ettore Rizzo, chief executive officer and co-founder of enGenome. “They wanted a tool that helped to accurately sort genetic data and identify variants at speed. They’re passionate about using genetic testing to help patients and that aligns with our beliefs. When technology and philosophy align, that builds a great relationship.”

As an ISV, enGenome provided Di Venere Hospital with a complete solution that did what it needed. This ensured a robust, tested, and fully supported solution over a custom build. The process was aided by enGenome’s participation in the AWS Think Big for Small Business program, which offers small and/or minority-owned public sector organizations unique access to business, technical, and marketing enablement support. “Participating in the Think Big for Small Business program has been highly valuable for us,” says Rizzo. “The validation process, along with the ongoing support and incentives we've received, has been extremely useful. The program has provided us with resources and guidance that have enabled us to connect with new leads and expand our presence in the market. It’s been a great opportunity to grow our business and better serve our clients.”

The use of eVai has transformed how genetic testing results are analyzed at Di Venere Hospital. “Instead of having to search through over 100 variants to find what we need, eVai can present the pathogenic variants quickly,” says Ficarella. “This cuts time from 50 hours for each patient to just a few hours. And it reduces the potential for errors.”

At Di Venere Hospital, using eVai has made genetic testing faster and more accurate. While eVai has been proven to increase diagnostic yield by 12.5 percent, Di Venere has also seen reductions in the amount of time it takes to detect rare genetic disea ses, reducing the average time for a patient to receive a correct diagnosis from an average of 7 or 8 years, to just 1 month. Across the healthcare system, earlier and more precise diagnoses are estimated to save up to €80,000 for each patient in testing and treatments. As a result of experience, upgrades in equipment, and the implementation of eVai, the hospital has increased by 10 times the number of tests it can conduct in a given period than what it could just 2 years before.

But in addition to these impressive numbers it also provides relief to patients. “We saw a patient who tried for more than 8 years to get treatment for symptoms,” says Ficarella. “He didn’t know what was wrong, had seen many doctors, and had undergone many tests. He and his wife endured years of worry. And they were concerned he might pass the condition to any children they might have. We were able to use eVai to quickly diagnose him with retinitis pigmentosa so he could get appropriate help. And because his case was recessive, we could reassure the couple that it would not be passed on to any of their children. No patient should have to suffer with uncertainty for years. Using enGenome, we can relieve uncertainty. It’s not a game changer—it’s a life changer.” 

Located in Carbonara di Bari, Italy, Ospedale Di Venere (Di Venere Hospital) is a regional medical center that provides a range of healthcare services from obstetrics to organ transplants. The hospital has established a program specializing in the diagnosis of rare genetic disorders.