newborn screening

The investment bank, which maintained its $60 price target for the company's stock, said it is looking for signs of revenue acceleration.

Sequencing the genomes of newborns is still a contentious undertaking with technical and ethical hurdles, although for sick infants, it has been successful. 

PerkinElmer may be nearing an FDA submission for a panel based on technology from the University of Washington, amid a push for state-mandated screening programs.

Under a five-year NIH grant, the researchers will evaluate whether earlier diagnosis of fragile X and SMA leads to earlier intervention and improved outcomes.

When it comes to fully enrolling infants in sequencing studies, parental enthusiasm sometimes seems to wane due to logistical considerations and privacy concerns. 

Cystic fibrosis carrier status often did not impact family planning decisions and was sometimes perceived as a risk to unaffected family members.

Researchers from Taiwan followed dozens of children who screened positive for deafness-related genotypes at birth, identifying those with hearing loss over six years.

The addition of certain kinds of information could help clinical labs determine whether variants of uncertain significance are pathogenic or benign.

The WUSTL-developed method detects a bile acid that is found at increased levels in Niemann-Pick patients, and is ready for pilot testing, its developers said.

Tute has partnered with LIMS provider UniConnect to build infrastructure to support gene panels for mitochondrial, metabolic, and other genetic diseases.

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The president of France's National Research Agency has resigned, according to Nature News.

A senator wants a "right-to-try" provision in the US Food and Drug Administration funding bill, but an ethicist says at Stat News that it would undermine the role of clinical trials.

In PNAS this week: red algae Porphyra umbicalis genome, deep neural network model for sequencing peptides, and more.

The Guardian's Barbara Ellen has tried out some DNA testing services to see whether they provide valuable information.