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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 FDNA CEO Dekel Gelbman "acknowledged that children from North America and Western Europe originally made up most of the Face2Gene database," he writes.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."

The Scan

Steps for Quick Review

The US Food and Drug Administration is preparing for the quick review of drugs and vaccines for the Omicron variant, according to the Wall Street Journal.

Moving Away From Using Term 'Race'

A new analysis finds that geneticists are using the term "race" in their papers less than in years past, as Science reports.

Point of the Program

The Guardian writes that some scientists have called the design of a UK newborn sequencing program into question.

Science Papers Present Multi-Omic Analysis of Lung Cells, Regulation of Cardiomyocyte Proliferation

In Science this week: a multi-omic analysis of lung cells focuses on RIT1-regulated pathways, and more.