FDNA Inc. Launches New Face2Gene Suite of Phenotyping Apps to Aid in Identification and Evaluation of Rare and Ultra-rare Genetic Disorders

New suite of phenotyping apps to be launched at the American Society of Human Genetics Annual Meeting

VANCOUVER, British Columbia--()--FDNA Inc. announced today at the American Society of Human Genetics (ASHG) Annual Meeting the launch of its new Face2Gene suite of phenotyping apps, facilitating comprehensive and precise genetic evaluations. Face2Gene increases confidence in clinical evaluations and improves the interpretation of genetic testing by filtering and prioritizing relevant variants.

Face2Gene is easy-to-use and seamlessly integrates into the user's workflow. Clinicians simply upload a patient photo into Face2Gene CLINIC where FDNA’s smart phenotyping technology extracts de-identified data points from the photo and compares them to a database of hundreds of thousands of similar data points from real-world patient cases that have been diagnosed with rare and ultra-rare genetic disorders. The result is a list of prioritized syndromes and comprehensive phenotypic information that supports clinical evaluations, as well as analysis and interpretation of genetic testing.

Face2Gene boasts world-class computer vision, deep learning and artificial intelligence technologies that work with real-world phenotype data to add a novel dimension to variant filtering and prioritization.

Face2Gene is fully HIPAA compliant, adhering to the most stringent privacy standards worldwide.

The Face2Gene suite consists of five applications used by clinicians, labs, researchers and educators:

  • Clinic – enhanced patient evaluation with deep phenotyping in the clinic
  • Forums – collaborative case review for difficult to diagnose patient cases
  • Library / London Medical Databases – a trusted dysmorphology content resource
  • Labs – better variant analysis through deep phenotyping
  • Academy – interactive dysmorphology training on any device

"Face2Gene provides critical information and analytics to geneticists to help bring patients and their families closer to a diagnosis,” Dr. Karen W. Gripp, MD, FAAP, FACMG, Expert Review Panel and Steering Committee Member/User. “This platform provides relevant, accurate and insightful data that has become an essential tool in the diagnostic process, saving valuable time for both clinicians and patients.”

"With this next generation Face2Gene suite, we take a huge step forward in advancing phenotyping and providing clinicians insightful tools to help research and investigation of genetic disorders and ultimately reduce patients’ diagnostic odyssey,” said Dekel Gelbman, CEO of FDNA. “The Face2Gene suite addresses a critical and unmet need in the genetic diagnostic process, and we look forward to sharing these innovative solutions and their capabilities with healthcare providers at the ASHG Annual Meeting.”

In line with the launch of the new suite, Face2Gene is issuing a call to all users to give back to the genetics community by joining the Face2Gene 60 Day Challenge, which would entail the use of Face2Gene to help improve facial analysis in the rare disease setting.

Questions about the new Face2Gene suite or the Face2Gene 60 Day Challenge can be directed to info@fdna.com, or stop by booth #1309 at the American Society of Human Genetics Annual Meeting in Vancouver, October 18-22. FDNA will be hosting a launch luncheon of the new Face2Gene suite on Wednesday 10/19 1:00 PM - 2:30 PM, Vancouver Convention Centre, Room 13, East Building.

About Face2Gene

Face2Gene is a suite of phenotyping apps that facilitates comprehensive and precise genetic evaluations, including: CLINIC - a utility that enhances patient evaluation with deep phenotyping; FORUMS – a platform for collaborative case review for diagnostic dilemmas; LIBRARY | LONDON MEDICAL DATABASES – a resource for trusted dysmorphology content; LABS – an API that enables better variant analysis through deep phenotyping; and ACADEMY – an interactive dysmorphology training tool.

For more information, please visit http://www.Face2Gene.com.

About FDNA

FDNA’s mission is to save lives and improve the quality of life of patients with rare or difficult-to-diagnose genetic syndromes. FDNA has developed the Face2Gene suite of phenotyping apps that facilitate comprehensive and precise genetic evaluations.

For more information, please visit http://www.FDNA.com.


FDNA, Inc.
Jeff Daniels, 508-217-6929


FDNA, Inc.
Jeff Daniels, 508-217-6929