FDNA launches Face2Gene LABS to accelerate genetic disease diagnoses

Face2Gene LABS

FDNA, which Face2Gene offering aims to transform big data into actionable genomic insights, is teaming-up with two of the most reputable genomics testing labs in the world — GeneDx and Blueprint Genetics. Under the deal, FDNA’s analysis will be integrated into the genetic testing workflow of these labs by enabling clinicians to share phenotypic data with these labs in real time.

FDNA’s Face2Gene suite of applications helps to quickly evaluate patients’ clinical signs through artificial intelligence and facial analysis. The solution features a database of more than 10,000 rare disease syndromes, and this new LABS capability is improving the speed and accuracy of a diagnosis for rare disease patients.

“Trying to diagnose patients with genetic sequencing is like searching for a pin in a 22,000-needle haystack,” Dekel Gelbman, CEO of FDNA, said in a statement. “By providing accurate phenotypic and clinical data to the lab directly at the point of genetic interpretation, we are truly realizing the promise of precision medicine. And, with the power of artificial intelligence behind it, clinicians will be pointed toward potential diagnoses that they may have never otherwise considered. GeneDx and Blueprint Genetics are both examples of innovative and renowned labs adopting technology that will lead the way in pinpointing rare disease and promote further medical advancements.”

With hundreds of millions of patients having their phenotypic information buried in paper files and unstructured data, it is challenging to integrate this information to support the variant interpretation process. With the Face2Gene LABS application, all of this information is available immediately to support the analysis of genetic testing to help clinicians pinpoint the disease-causing genetic variants as they draw clearer and more efficient conclusions.

“This is an important collaboration for several reasons,” Dr. Ben Solomon, Managing Director of GeneDx and practicing clinical geneticist, said in a statement. “It’s a great way to leverage clinical and genetic information and machine learning approaches to find answers for the clinicians, patients and families GeneDx serves. Aside from providing answers, this integration will make the diagnostic testing process easier, smoother and more enjoyable for clinicians.”