GeneDx, Blueprint Genetics to Add FDNA’s Phenotyping Analysis to Genetic Testing Workflow​​

May 23, 2017

NEW YORK (GenomeWeb) 

“FDNA said today that it is collaborating with clinical genetics laboratories GeneDx and Blueprint Genetics, which will integrate its phenotyping software into its workflow. The collaboration will fully integrate FDNA’s analysis into the genetic testing workflow of these labs by enabling clinicians to share phenotypic data with these labs in real-time. FDNA, based in Boston, offers a suite of phenotyping applications called Face2Gene that use facial analysis, deep learning, and artificial intelligence to evaluate symptoms of patients with rare genetic diseases and suggest possible diagnoses, based on a database of more than 10,000 rare disease syndromes. Under the collaboration, clinicians will be able to use FDNA’s Face2Gene Labs tool to send patient phenotypic data, including facial data collected through the software, directly to the labs.”

 

The article explains that GeneDx and Blueprint Genetics are set to incorporate FDNA’s advanced phenotyping analysis into their genetic testing workflows. FDNA’s cutting-edge technology enables detailed phenotypic profiling, significantly improving diagnostic accuracy for various genetic conditions. By leveraging FDNA’s capabilities, GeneDx and Blueprint Genetics aim to enhance the detection and understanding of complex genetic disorders. This integration marks a significant step forward in personalized medicine, combining genetic data with phenotypic analysis to offer more precise and comprehensive insights into patient health. This collaboration highlights the growing importance of phenotyping analysis in genetic testing.