Rare Disease Report

Variantyx and FDNA Partner to Simplify Rare Disease Diagnosis

AUGUST 30, 2017
Mathew Shanley
FDNA, the facial recognition software that is revolutionizing how rare diseases get dignosed just took a another leap forward with the announcement of its partnership with the genetic testing company Variantyx.

The collaboration should further ease and expedite the diagnoses of rare diseases.

By integrating Variantyx’s clinical whole genome testing pipeline with FDNA’s Face2Gene suite of applications, analysis of signs and symptoms will be sped up and genetic variant understanding will be enhanced.

Variantyx’s Genomic Intelligence platform programs the complete next generation sequencing process from sample collection to sequencing, data analysis, interpretation and clinical report generation, which permits ordering physicians to focus on confirming a diagnosis with the interactive support of Variantyx’s US Board Certified Geneticists.

FDNA, with its Face2Gene suite of phenotyping applications, allows clinicians to evaluate facial analysis, artificial intelligence and genomic insights in analyzing patient cohorts, and share their findings with other clinicians around the world.

Dekel Gelbman, CEO, FDNA stated: “Bringing FDNA’s artificial intelligence and facial analysis technologies to Variantyx is facilitating a new age in precision medicine. With Face2Gene currently being used by more than 70% of clinical geneticists worldwide, we expect a significant increase in answers for patients as we highlight gene variations related to the patient’s symptoms and features.”

Combined, the technologies will allow clinicians throughout the world to transport information regarding the phenotypes, syndromes and genes that are associated with a patient’s facial and clinical analysis to Variantyx directly, which in turn will speed up analysis and improve variant interpretation.

“Our collaborative diagnostic approach, which leverages close collaboration between the ordering clinician and Variantyx’s board-certified medical geneticists, provides important input that shapes variant interpretation,” said Variantyx, CEO Haim Neerman in a press release.

“By integrating FDNA’s technology within the Genomic Intelligence platform, a more complete phenotypic picture is provided, helping prioritize genetic variants that may have otherwise been missed.”

According to Global Genes, the mean length of time from symptom onset to a proper rare disease diagnosis is 4-5 years. The integration of innovations from Variantyx and FDNA hopes to shorten that significantly.

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