Collaboration to improve and accelerate genetic disease diagnoses


Today, FDNA ( announces its collaboration with two of the most reputable genomics testing labs in the world, GeneDx and Blueprint Genetics. The collaboration will fully integrate FDNA’s analysis into the genetic testing workflow of these labs by enabling clinicians to share phenotypic data with these labs in real time. This marks the first time clinicians will have the ability to send phenotypic data, including facial analysis collected through FDNA’s Face2Gene suite, directly to labs, paving the way for a new precision medicine industry standard.

This Smart News Release features multimedia. View the full release here:

FDNA Announces Collaboration with GeneDx and Blueprint Genetics in the Launch of Face2Gene LABS (Pho ...

FDNA Announces Collaboration with GeneDx and Blueprint Genetics in the Launch of Face2Gene LABS (Photo: Business Wire)

Founded in 2011, FDNA is committed to helping clinicians, labs and researchers diagnose, treat and create therapies for rare diseases. FDNA’s Face2Gene suite of applications helps to quickly evaluate patients’ clinical signs through artificial intelligence and facial analysis. With a comprehensive database of more than 10,000 rare disease syndromes, 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,” said Dekel Gelbman, CEO of FDNA. “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.”

The results of PEDIA, a recent study led by the Berlin Institute of health and Charité University of Medicine, displayed exciting results of this collaboration on the accuracy of genetic sequencing. “We estimate that the addition of phenotypic features [encoded in HPO terms] increases the diagnostic yield to about 60% [from 25% without]. When adding facial analysis, FDNA’s technology, to that process, the diagnostic yield increases to more than 85%,” explained Dr. Peter Krawitz, Principal Investigator of PEDIA.

One in 10 people worldwide suffer from a rare genetic disease, and often the search for answers is a tiresome journey. 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,” said Dr. Ben Solomon, Managing Director of GeneDx and practicing clinical geneticist. “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.”

“Since 2012, Blueprint Genetics has been developing technological innovations in sequencing and clinical interpretation to improve the quality and performance of rare disease diagnostics,” said Dr. Tero-Pekka Alastalo, PhD and Chief Medical Officer of Blueprint Genetics. “It’s great to see how these innovations are now helping the genetics community and patients suffering from inherited disorders. Combining these technological innovations with our transparent approach to diagnostics and next generation phenotyping tools like Face2Gene represents the next steps forward in molecular genetic diagnostics.”

About FDNA and Face2Gene
FDNA is the developer of Face2Gene, a clinical suite of phenotyping applications that facilitates comprehensive and precise genetic evaluations. Face2Gene uses facial analysis, deep learning and artificial intelligence to transform big data into actionable genomic insights to improve and accelerate diagnostics and therapeutics. With the world’s largest network of clinicians, labs and researchers creating one of the fastest growing and most comprehensive genomic databases, FDNA is changing the lives of rare disease patients. For more information, visit

About GeneDx
GeneDx is a world leader in genomics with an acknowledged expertise in rare and ultra-rare genetic disorders, as well as one of the broadest menus of sequencing services available among commercial laboratories. GeneDx provides testing to patients and their families in more than 55 countries. GeneDx is a wholly-owned subsidiary of BioReference Laboratories, an OPKO Health, Inc. company. For more information, visit

About Blueprint Genetics
Blueprint Genetics is a genetic diagnostic laboratory that provides comprehensive genetics testing services through innovative technologies. This includes DNA sequencing and clinical interpretation in human rare diseases that enable improved quality and performance, faster lead-time and overall cost efficiency. With IBM Watson-powered CLINT technology, Blueprint Genetics’ expert team of geneticists and clinicians provide top-quality clinical interpretation and reporting, changing the standards of molecular diagnostics. For more information, visit

Jen Sadowski, 617-379-5247