At the National Society of Genetic Counselors annual meeting, a number of clinicians said they conduct their own investigations of variants in clinical lab reports.
The report advises that although sequencing the genomes of infants can be appropriate in some specific cases, we shouldn’t implement large-scale programs to test healthy babies.
Part of the donation from the Hall Family Foundation and the Sunderland Foundationwill be used to expand the Center or Pediatric Genomic Medicine and to build a state-of-the-art genome center.
When it comes to fully enrolling infants in sequencing studies, parental enthusiasm sometimes seems to wane due to logistical considerations and privacy concerns.
As president and CEO of the Rady Pediatric Genomics and Systems Medicine Institute, Kingsmore will be working toward adopting genomics to transform pediatric care.
The researchers increased the test's sensitivity for nucleotide variants from less than 96 percent to 99.5 percent and reduced the time to provisional results from 50 hours to 26 hours.
The study appears to be the only one of four that has launched 15 months after the awards were made, which may or may not be related to FDA oversight of the projects.
Researchers also plan to launch a prospective randomized clinical trial to test the effectiveness of whole-genome sequencing compared to the standard of care.
St. Jude Children's Research Hospital scientists have treated infants with X-linked severe combined immunodeficiency using gene therapy in an early phase study.
In Nature this week: a genomic analysis of the snailfish Pseudoliparis swirei, ancient DNA analysis gives insight into the introduction of farming to England, and more.
