Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene.

Journal: American journal of medical genetics. Part A
Published Date: Jul 4, 2025

Abstract

Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step toward arriving at a genetic diagnosis. Synthesizing a differential diagnosis from the information gathered helps to guide the genetic testing strategy. Challenges to recognizing a disorder include the breadth of the clinician's prior experience, the lack of distinctive dysmorphology or overlapping dysmorphology in some conditions, atypical presentations, and difficulties identifying phenotypes across different ancestries. In cases where such challenges exist, advanced facial recognition technology can help the consulting expert by directing a more efficient test strategy. We present 17 cases involving 19 patients, including one pair of affected siblings and one case involving a child and her affected mother, for which DeepGestalt, the technology powering Face2Gene, changed medical geneticists' testing decisions. These cases illustrate how this form of artificial intelligence can provide clinical utility through influencing providers' genetic testing recommendations in real time.

Authors

  • Natasha L Rudy
    Greenwood Genetic Center, Greenville, South Carolina, USA.
  • Adriana Gomes
    Department of Pediatrics and Rady Children's Hospital, Division of Dysmorphology/Genetics, University of California San Diego, San Diego, California, USA.
  • Tinatin Tkemaladze
    Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia.
  • Omar Abdul-Rahman
    Department of Pediatrics, New York-Presbyterian Weill Cornell Medicine, New York, New York, USA.
  • Drew Cratsenberg
    Genetic Medicine Division, Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska, USA.
  • Giulia Pascolini
    Rare Diseases Center, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Rome, Italy.
  • Giovanni Di Zenzo
    Molecular and Cell Biology Laboratory, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Rome, Italy.
  • Daniele Castiglia
    Molecular and Cell Biology Laboratory, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Rome, Italy.
  • Emily Black
    Greenwood Genetic Center, Greenville, South Carolina, USA.
  • Camerun Washington
    Greenwood Genetic Center, Greenville, South Carolina, USA.
  • Lauren Chad
    Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.
  • Cynthia Curry
    Department of Pediatrics, Genetic Medicine, University of California San Francisco/Fresno, California, USA.
  • Miguel Del Campo
    Department of Pediatrics and Rady Children's Hospital, Division of Dysmorphology/Genetics, University of California San Diego, San Diego, California, USA.
  • Nicole Fleischer
    FDNA Inc., Boston, MA, USA.
  • Lynne M Bird
    Department of Pediatrics, University of California San Diego, San Diego, CA, USA.
  • Anna C E Hurst
    Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

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