Two thirds of children who underwent genetic testing in the pediatric intensive care unit showed a genetic variant, and a third of these children received changes in care as a result, according to a new study presented at the Society of Critical Care Medicine’s (SCCM) 2023 Critical Care Congress.
The use of diagnostic rapid whole-genome sequencing (rWGS) can play a crucial role in guiding treatment for critically ill children, researchers reported at the 2023 Critical Care Congress, in San Francisco.
Today we highlight three potentially practice-changing studies…. When the reason for a child’s critical illness is unclear, rapid genetic testing often helps identify the problem and point doctors to the right treatment – but it is currently underused, researchers say.
California-based researchers described how they trained a deep-learning model to detect DNA mutations called mosaic mutations that could support the development of treatments for several diseases.
Researchers at the UCSD School of Medicine and RCIGM have created a deep learning tool that uncovers disease-causing mosaic mutations, a first step they say to find ways to develop treatments for many diseases.
WISH-TV, Indianapolis: A new screening for newborns could expand the number of genetic diseases infants are tested for before they leave the hospital. The project is called BeginNGS, with the NGS standing for Newborn Genomic Sequencing.
RARE DISEASE REPORT: Catherine Nester, RN, and Dr. Stephen Kingsmore, discuss the pivotal role of newborn screening in diagnosing rare diseases along with the impact that BeginNGS can have on the future of rare disease medicine.
GENOMEWEB: [Newborn sequencing] research studies around the world are starting to get off the ground, ranging in size from 1,000 to more than 100,000 infants. At the inaugural International Conference on Newborn Sequencing (ICoNS) in Boston last week, eight of these endeavors — based in the US, Europe, and Australia — provided outlines of their plans and goals.
GENOMEWEB: RCIGM President & CEO Stephen Kingsmore provides context for the nanopore’s latest three-hour sequencing announcement.
USA TODAY: Every baby born in the United States is pricked in the heel shortly after birth. A blood sample is then analyzed to look for one of 20 to 30 inherited diseases. Now, doctors want to go even further: They want to look not just at blood, but at genes.