Speeding Diagnosis of Rare Diseases By Empowering Pediatricians

First-Ever Collaboration: Pilot Program Giving Pediatricians Direct Access to Geneticists so Rare Diseases Are Diagnosed Accurately and Early

Families need faster, accurate diagnosis so they can access clinical trial opportunities as soon as possible. A key to this happening is bridging the gap in pediatricians’ access to genetics information, especially regarding rare diseases. To help bridge this gap, Cure Sanfilippo Foundation has partnered to pilot the Genetics Access in Primary Pediatrics (GAAP) project, linking Greenwood Genetic Center’s (GCC) clinical geneticists and genetic counselors to pediatricians through the Faces2Genes app.

Face2Gene analyzes patient photographs using machine learning and computer algorithms to help make challenging diagnoses. Through the GAPP pilot project, the Face2Gene improves patient wait times and allows a pediatrician to identify patients through a list of genetic “triggers” or features that may indicate a need for further genetic evaluation.

If the patient’s family elects to be a part of the GAPP pilot project, the pediatrician uploads facial photos and other clinical information to Face2Gene where it can be securely shared with GGC clinicians for review. The geneticist can suggest appropriate referrals or genetic testing that can be initiated by the pediatrician in advance of the genetics appointment. Urgent referrals can be prioritized, and when the patient does come in for their genetics consultation, initial test results have already been completed, saving valuable time.

Learn more about the Faces2Gene project and Foundation’s collaboration.

Cure Sanfilippo Foundation

501c3 non-profit
(Tax ID: 46-4322131)

curesff@gmail.com

P.O. Box 6901
Columbia, SC 29260

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