By combining FDNA’s artificial intelligence-based technologies and services with PerkinElmer’s longstanding diagnostics expertise and state-of-the-art clinical genomics program, Face2Gene LABS will give clinicians access to:
- FDNA’s unprecedented phenotypic and genotypic data associated with more than 10,000 diseases from over 150,000 patients around the world;
- PerkinElmer Genomics’ global laboratory network and extensive database of known genetic variations from different ancestries around the world;
- Improved test selection, gene targeting, and variant prioritization through the integration of NGP technologies into molecular analysis, while reducing time spent and lowering testing costs;
- ISO 27001 certified platform that facilitates secure communication of patient information between clinicians and labs.
“We are thrilled to collaborate with FDNA to help end the diagnostic odyssey for patients living with rare and genetic disorders,” said Dr. Madhuri Hegde, vice president and chief scientific officer, PerkinElmer Genomics. “By embedding FDNA’s NGP technologies into our lab ordering and variant analysis workflows, we are able to supplement our current offerings, in an effort to offer the highest quality genomic testing options and efficiency.”
Dr. Karen Gripp, chief medical officer at FDNA, went on to add, “Without the phenotype, a crucial element of the diagnostic workflow is missing. With this integration, we’re revolutionizing the standard of care where eventually all genetic testing will be influenced and improved by NGP technologies.”
FDNA is a leading developer of artificial intelligence-based technologies, also known as NGP technologies, that capture, structure and analyze human phenotypic data to generate unique and comprehensive genomic insights. The first of several NGP technologies to be developed, DeepGestalt, was recently published in Nature Medicine and powers FDNA’s flagship product, Face2Gene Clinic, used by clinical geneticists around the world. Recent studies have demonstrated that when these NGP technologies are combined with genomic scores in the variant analysis process, the causative variant is ranked within the top10 variants in more than 90% of cases (Prioritization of Exome Data Image Analysis ‘PEDIA’).
“Together with PerkinElmer Genomics team, we’re excited to launch the first product that offers genomic services augmented by NGP technologies, and to connect a global laboratory network to the largest community of clinical geneticists,” said Dekel Gelbman, CEO of FDNA. “We’re proud to deliver a comprehensive platform to empower health outcomes and bring patients one step closer to a complete continuum of care.”
About PerkinElmer Genomics
PerkinElmer Genomics has two state-of-the-art CLIA and CAP-certified clinical laboratories based in Pittsburgh, PA and Branford, CT that process more than 500,000 samples a year. Its testing menus include newborn screening, biochemical profiling, 2nd tier molecular confirmatory testing, Sanger and NGS-based panels, and clinical exome and genome sequencing services. Through its integrated laboratories in the U.S., India, Malaysia and China, PerkinElmer offers a global genomic lab testing platform that performs screening and diagnostic testing, specializing in newborn screening and high throughput clinical genomics services for rare inherited diseases. For more information, please visit www.perkinelmergenomics.com.
FDNA develops AI technologies and SaaS platforms used by thousands of clinical, research and lab sites globally in the clinical genomics space. Using advanced deep learning, FDNA’s next-generation phenotyping (NGP) technologies capture, structure, and analyze complex human physiological data to produce actionable genomic insights. Since its founding in 2011, FDNA has positioned itself at the forefront of AI, genomics, and precision medicine. For more information, visit www.FDNA.com.
Christen Baglaneas, FDNA
Director, Corporate Communications