Skip to main content
Premium Trial:

Request an Annual Quote

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

NEW YORK (GenomeWeb) – FDNA said today that it is collaborating with clinical genetics laboratories GeneDx and Blueprint Genetics, who will integrate its phenotyping software into their 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," according to the company.

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 information can "support the analysis of genetic testing to help clinicians pinpoint the disease-causing genetic variants as they draw clearer and more efficient conclusions," the firm said.

Ben Solomon, managing director of GeneDx, a subsidiary of BioReference Laboratories, said in a statement that the collaboration is "a great way to leverage clinical and genetic information and machine learning approaches to find answers for the clinicians, patients, and families GeneDx serves" and will "make the diagnostic testing process easier, smoother, and more enjoyable for clinicians."

Combining its own innovations in DNA sequencing and clinical interpretation with phenotyping tools like Face2Gene "represents the next step forward in molecular genetic diagnostics," said Blueprint CMO Tero-Pekka Alastalo in a statement.