Hillel's Tech Corner: Emedgene: Where AI Meets DNA

When it comes to genetic tests, a single letter abnormality in the sequence of an individual’s DNA can have a tremendous impact on that person’s health.

Emedgene (photo credit: Courtesy)
(photo credit: Courtesy)
Genetic testing is not new, it’s been around for years, but what is relatively new is the vast amount of data that genetic testing produces. As many have said before me, “Data is the new oil.”
When it comes to genetic tests, a single letter abnormality in the sequence of an individual’s DNA can have a tremendous impact on that person’s health.
So, in a world that is producing more and more data, how can geneticists interpret that data and extract actionable insights so they can act fast and produce the best medical care?
That is the challenge an Israeli company called Emedgene is aiming to solve. Founded in 2016 by Einat Metzer, Shay Tzur, and Niv Mizrahi, the company has more than 40 employees and has raised $8 million from OliveTree Ventures and Mindset Ventures.
Emedgene is a next-generation genomics intelligence platform, incorporating the most advanced artificial intelligence technologies to significantly streamline the interpretation and evidence presentation process. Using Emedgene, healthcare providers are able to provide individualized care to more patients through higher resolution rates and significantly improved yield.
Metzer, the company’s CEO, is an executive with years of operational experience in product, sales and business development in software companies. Previously investment manager with Gemini Israel Ventures, Einat advised portfolio companies on strategy and business development in diverse industries including enterprise software and healthcare IT.
Shay Tzur, the company’s CSO and co-founder, is a leading geneticist with vast experience in research and commercial applications of Next Generation Sequencing data for clinical use. Previously owner of Genome interpretation company, and geneticist at Gene by Gene, Shay leads the Emedgene Research Division and has published over 45 research papers. Tzur holds a PhD in human genetics, and is the discoverer of the APOL1 gene, which impacts dozens of millions of African origins renal disease patients globally.
Finally, Niv Mizrahi, the company’s CTO and co-founder, is an expert in big data and large-scale distributed systems. Niv is a highly experienced R&D manager who previously served as the director of engineering at Taykey, where Niv helped build an R&D organization from the ground up, and lead dozens of developers to a successful implementation of machine learning algorithms in complex big data systems. He also managed the research, big data, automation and operations teams.
There are only a few thousand geneticists worldwide and with that much data at their fingertips, there is a need for AI and Machine Learning to help interpret that data.
The human genetic code consists of some 3 billion letters, or, genetic bases known as adenine, cytosine, thymine, and guanine. Tzur, who did his PhD in population genetics, the study of genetic variation within populations, explains that one letter can have a very interesting effect that needs to be analyzed and examined.
Rare genetic diseases, of which there are anywhere between 6,000 and 8,000, are often caused by a single letter abnormality.
Families trying to pinpoint a diagnosis often find themselves on a wild goose chase given all the possibilities and lack of resources to analyze that data.
THE IRONY here is that thanks to technology, there are about five new rare diseases reported each week and tens of thousands of new findings published every year. On the other hand, there is so much data that patients with rare diseases can find themselves searching for a diagnosis for about five years and include misdiagnoses, multiple doctors and conflicting opinions until a correct diagnosis is made.
It’s the interpretation of all that data that presents a major bottleneck in the process of diagnosing patients.
Emedgene’s AI-based genomic interpretation platform interprets genetic tests automatically, thereby helping geneticists manage their growing workload in a more timely manner and with higher accuracy.
By using AI to save time and increase accuracy of analyzing DNA, researchers can make more educated decisions about patient care now and in the future.
The company uses an AI engine that has been trained to perform genomics research, basing it on millions of data points from patient cases, databases, and the most recent genomics publications.
Another challenge Emedgene is solving is knowing when there is not enough data for a genomic case to be solved. The company’s product Pathorolo tells geneticists when to stop researching a specific case if there is not enough available information and consequently, it saves precious lab time.
The way Emedgene’s algorithm stays up to date on all the latest scientific literature is by using Natural Language Processing. This includes information from more than 1.5 million new publications that are released every year.
Genetic labs including Baylor Genetics, Baylor College of Medicine, Medical College of Wisconsin, Greenwood Genetic Center, TGEN and Clalit HMO are all currently using Emedgene’s platform.
Greenwood Genetic Center, a nonprofit organization advancing the field of medical genetics and caring for families impacted by genetic disease and birth defects in South Carolina, says Emedgene’s platform slashed its turnaround times on genomic analysis by 75%.
Emedgene has been recognized for technological excellence numerous times and was named one of Israel’s top 50 most promising start-ups of 2020 by Calcalist.
According to Emedgene, the company was founded on the vision that genetic medicine will inevitably be the medical standard of care, and that fact should be used to help patients worldwide.
The reason Emedgene’s technology is so significant is because rare genetic diseases, despite all our technological advancements, remain somewhat of a mystery that’s just waiting to be solved.
As AI continues to impact almost every aspect of our lives, we have seen its potential in healthcare many times, but Emedgene’s use of AI to interpret the human genome is a whole new level of cutting edge technology.