Israeli Startup Identifai’s Revolutionary AI Genetic Test Screens 250 Diseases in Unborn Babies with Single Blood Draw

Israeli Startup Identifai has developed AI technology capable of identifying the risk of 250 genetic diseases in a 9-week-old fetus through a simple maternal blood test. The firm states that this is a “first-of-its-kind capability to conduct full genetic sequencing of fetuses” which “increases the number of detectable genetic conditions tenfold” compared to traditional NIPT (non-invasive prenatal testing) blood tests.

To date, IdentifaI has raised $6.5 million from eHealth Ventures specializing in HealthTech investments, Shizim Fund, and additional investors, along with grants from the Israel Innovation Authority.

Every year, millions of babies are born, but many face the risk of inherited genetic diseases. While amniocentesis can accurately diagnose these conditions, it’s a risky procedure. Thankfully, non-invasive prenatal testing (NIPT) offers a safer option, screening for 25 genetic disorders like Tay-Sachs, cystic fibrosis, and spinal muscular atrophy.

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Identifai was founded in 2021 based on the research of Professor Noam Shomron from Tel Aviv University, a world expert in genetics and bioinformatics. The aim of the company was to revolutionize early detection of genetic disorders in utero. Based on Shomron’s research, Identifai developed an AI/ML-based technology that analyzes maternal blood samples, isolates fetal DNA from maternal DNA, and performs a full fetal genetic sequencing starting from 9 weeks gestation.

This revolutionary technology can predict a fetus’s risk for hundreds of genetic diseases, far beyond what traditional tests can do. By detecting tiny DNA changes, it can identify a wide range of genetic conditions. Identifai provides a detailed report to help parents and doctors understand the potential risks and make informed decisions about the pregnancy.

The Israeli technology has already gained international recognition through a study conducted at Beilinson and Meir hospitals, whose results were published as the cover story of the global leading journal for prenatal diagnostics, Prenatal Diagnosis. The study examined 18 pregnant women and their partners, where both partners were carriers of genetic diseases. Identifai’s system analyzed the mothers’ blood samples and predicted fetal risks with 100% accuracy, matching the results from amniocentesis.

“Our unique technology has the potential to change the game in the prenatal testing market,” said IdentifAI CEO Eyal Miller. “This market is currently valued at $6 billion annually, with NIPT tests making up 50% of it, and is expected to grow to $19 billion by 2030. Our ability to detect fetal risk for hundreds of genetic conditions will expand this market to hundreds of billions, including early in-utero surgeries and detection of late-stage conditions where amniocentesis is no longer an option. Furthermore, this solution, which does not require FDA approval, will be accessible, convenient, and effective for populations worldwide who avoid amniocentesis for cultural reasons, for millions of pregnancies where the father’s identity is unknown, and in response to new U.S. legislation limiting abortions and amniocentesis tests that might justify terminations.”

Following a successful trial at Beilinson and Meir hospitals, IdentifaI is conducting additional trials in the U.S., recently completing a study at Columbia University Medical Center, with results pending. Within two months, seven leading U.S. medical centers will join the trials, providing valuable documentation and support for the technology. IdentifAI is also negotiating with several large corporations considering adopting the technology as a service for their customers.