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.
Clinicians in Boston are beginning to sequence newborns' genomes, CBS Boston reports.
Ivanka Trump and Secretary of Education Betsy DeVos call on girls to pursue STEM careers, the Associated Press reports.
Some science companies will be taking part in next month's March for Science, Fortune reports.
In Genome Research this week: longitudinal study of Burkholderia cenocepacia isolates from cystic fibrosis patients, long-read assembly approach, and more.
Shale oil companies are turning to DNA sequencing to find spots to drill, Reuters reports.