With users at more than 2,000 clinical sites globally, more than 65% of the clinical genetics market uses the FDNA platform as part of their routine workflow. Photo: FDNA

FDNA has teamed up with Ambry Genetics, Variantyx, Fulgent and others to advance genetic testing for rare diseases. 

Several of the world’s top genetic testing laboratories are accelerating genetic disease diagnostics by integrating FDNA’s next-generation phenotyping technologies into their workflow. Piloted earlier this year, FDNA’s Face2Gene LABS and Face2Gene CONNECT API are now available to all labs. Among those announcing partnership include Blueprint Genetics, Ambry Genetics, Variantyx and Fulgent Genetics, among others. 

The integration will help clinicians quickly evaluate patients’ clinical signs to highlight possible underlying disease-causing genetics through artificial intelligence and facial analysis. This new LABS capability allows clinicians using Face2Gene CLINIC to securely pass patient phenotypes and facial analysis insights to the lab to improve the speed and accuracy of a diagnosis.

Research shows that for rare diseases, genetic testing alone yields a diagnosis in only one of four cases. When coupled with facial analysis and phenotypic data, diagnoses can jump dramatically.

“With the world’s top labs adopting FDNA technology, the combination of next-generation sequencing with next-generation phenotyping is fast becoming the new standard in rare disease diagnosis,” Dekel Gelbman, CEO of FDNA, said in a statement. “We look forward to a new era of precision medicine where we can deliver faster, more precise answers for patients and their families.”

In the United States alone, one in 10 people suffer from a rare genetic disorder, yet surprisingly few have been given a precise diagnosis. Providing a diagnosis is for patients, families and care providers to better understand and prepare for what lies ahead.

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 the bioinformatics pipeline, speeding analysis while improving the diagnostic yield of molecular interpretation.