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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.
GENOMEWEB: RCIGM President & CEO Stephen Kingsmore provides context for the nanopore’s latest three-hour sequencing announcement.
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.
AI has the potential to revolutionize the field of genomic diagnostics. Healthcare Tech Outlook looks at how RCIGM has created a machine-learning based process that incorporates Natural Language Processing to rapidly and accurately diagnose genetic illnesses.
Artificial intelligence (AI) is revolutionizing genomic medicine by providing better health outcomes. BBN Times explores two applications of AI in genomic diagnostics, including RCIGM’s rWGS®.
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.
© 2024 Rady Children's Institute for Genomic Medicine.