Skip to main content
Premium Trial:

Request an Annual Quote

Recognizing Rare

Face2Gene software from the Boston-based firm FDNA uses facial recognition as another piece of the puzzle for clinical geneticists diagnosing rare genetic conditions at Boston Children's Hospital and beyond, Jonathan Saltzman reports in the Boston Globe.

Saltzman sketches out a handful of rare genetic disease cases that have been diagnosed with insights from Face2Gene, including a child with Kabuki syndrome that clinical geneticist Olaf Bodamer saw at Boston Children's Hospital. 

Other medical geneticists and commercial firms have been applying the genetics-focused facial recognition software as well. Last fall, for example, PreventionGenetics' CLIA-certified DNA testing lab announced that it would be incorporating Face2Gene phenotyping into its genetic testing and interpretation package. Pronto Diagnostics, in Israel, followed suit this spring.

Still, Saltzman outlines concern that some experts have expressed about the prevalence of northern European photos in medical genetics databases, such as that used as a reference for Face2Gene. FDNA CEO Dekel Gelbman "acknowledged that children from North America and Western Europe originally made up most of the Face2Gene database," he writes. "But he said the company has contacted clinical geneticists around the world who have uploaded pictures, and now less than half of the children are white."