During its first year, the BeginNGS newborn whole genome sequencing program welcomed 22 founding members, completed its first phase, and launched next-phase screening for 31 additional genetic disorders.
BECKER'S HOSPITAL REVIEW: San Diego-based Rady Children's Institute for Genomic Medicine has partnered with healthcare data company PlumeCare RWE to create a pilot program that will screen newborns for 400 genetic diseases.
Rapid whole genome sequencing will become more useful, augmented by EHR data, the use of the cloud and comparisons with large databases, says Stephen Kingsmore, MD.
RARECAST PODCAST: RARECAST spoke to Matthew Bainbridge, principal investigator and associate director of clinical genomics at Rady Children’s Institute for Genomic Medicine, about the institute's collaboration with Pacific Biosciences, how long-read sequencing differs from traditional whole genome sequencing, and why this is helping to find answers for undiagnosed patients with rare genetic diseases.