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Press Release

Ambry Genetics Announces Integration with FDNA to Advance Precision Medicine

Ambry Genetics Corporation
Posted on: 14 Sep 17

Today,Ambry Genetics Corporation (“Ambry Genetics”) announces integration between their secure AmbryPort 2.0 (AP2) clinician ordering platform and FDNA’s Face2Gene® suite of applications. This integration is expected to dramatically increase and transform the diagnostic power of genetic testing in rare diseases.

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Driven to give clinicians the most advanced testing available, Ambry Genetics is a leader in genetic testing for patients with rare diseases. Part of a commitment towards making large-scale genetic testing more affordable and available, Ambry Genetics’ collaboration with FDNA will increase clinicians’ abilities to quickly diagnose and treat patients, while accelerating the rate of scientific discoveries in rare diseases.

Face2Gene’s artificial intelligence and computer vision technology will be used to highlight genetic variants that are highly correlated with disease and the patient’s clinical phenotype. The integration between AP2 and Face2Gene will allow clinicians who are evaluating patients with Face2Gene to securely pass phenotypic information and insights from facial analysis to AP2 to facilitate increased diagnostic yield of molecular interpretation.

“Our goal at Ambry Genetics is to ensure every patient seeking answers is able to find them,” said Laura Panos Smith, MS CGC, Ambry Genetics’ Director of Genetic Specialists. “This technology integration is highlighting relevant syndromes and genetic variants that otherwise may have been missed, and Face2Gene’s deep learning technology learns from each case, ensuring our diagnostic pipeline continues to improve and lead the way for rare genetic diseases.”

Face2Gene is currently used by more than 70% of clinical geneticists worldwide as a means to evaluate syndromes, genes and phenotypes that correlate with patients’ facial and clinical analysis. With this integration, clinicians using Face2Gene can now send clinical genomic insights directly into Ambry Genetics’ bioinformatics pipeline, speeding analysis while improving the rate of diagnoses based on difficult to interpret testing results.

“Bringing FDNA’s artificial intelligence and facial analysis technologies to Ambry Genetics is facilitating a new age in precision medicine,” said Dekel Gelbman, CEO of FDNA. “We expect a dramatic increase in patients who find answers, increased understanding of rare diseases, and increased access for drug developers to create precision therapeutics for this large but underserved patient population.”

About Ambry Genetics

Ambry Genetics is a privately held healthcare company with the industry’s most comprehensive suite of genetic testing solutions, benefiting 90% of all U.S. patients covered by public and private insurers. Ambry Genetics is dedicated to scientific collaboration and the belief that human health should not be patented or owned.

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 . Face2Gene is a registered trademark of FDNA INC.

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Last updated on: 14/09/2017

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