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UK researchers found that just 22 percent of screening recommendations for rare newborn diseases were based on systematic reviews of available evidence.
At the ACMG meeting, Cynthia Morton said that several projects, including her team’s SEQaBOO study, are exploring the utility of genomic testing in newborn hearing screening.
The $649 NGS test screens for 193 disorders, can be ordered online, and is designed to supplement standard state newborn screening services.
The so-called ACT sheets are one pagers that guide doctors on what to do after receiving a genetic test results for a patient.
Last week, the company launched whole-genome sequencing of children for customers of its ViaCord cord blood and tissue banking business.
Baebies said its deal with Labsystems enables it to provide a more comprehensive newborn screening offering to its customer base in global markets.
The developers maintain that the new assay would address an unmet market need for a DMD screening test.
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.