newborn screening

Last week, the company launched whole-genome sequencing of children for customers of its ViaCord cord blood and tissue banking business.

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.

Pages

The Seattle Times writes that pharmacogenomics testing can help choose medications that may work best for people with depression.

Researchers report that deleting one gene from butterflies affects their wing coloration patterns, according to the Washington Post.

In PNAS this week: genome sequencing of weevil symbionts, retinoid X receptor deletion in lung cancer metastasis, and more.

Sequencing could help combat foodborne illnesses, according to a blog post by Food and Drug Administration officials.