Rapid WGS: How Rady Children’s Institute Is Increasing Diagnostic Yield and Improving Outcomes

November 18th, 2020

Rapid whole-genome sequencing (rWGS) is an emerging method that can provide molecular diagnosis in time to alter acute medical or surgical management and improve outcomes in acutely ill children. The clinical utility of rWGS depends on the ability to rapidly analyze and interpret large amounts of sequencing data. Diagnostic yield and accuracy are of the utmost importance. Validation, and implementation of automated data analysis platforms, including automated literature curation search engines, is needed to increase diagnostic yield while reducing turnaround time. Reliance on expert resources must decrease to drive down operational costs and make this testing more cost-effective.

In this GenomeWeb webinar, Dr. Stephen Kingsmore, President and CEO of Rady Children’s Institute for Genomic Medicine, give an executive overview of the two-time world-record-setting Rady rWGS method, followed by a deeper examination of the institute’s analysis and interpretation pipeline by Dr. Katarzyna (Kasia) Ellsworth. The presentation includes a demonstration of the Rady literature curation process that is powered by the Mastermind Genomic Search Engine.

  • Why rWGS is essential for undiagnosed infants in an intensive care setting
  • How Rady Children’s Institute for Genomic Medicine uses best-of-breed technology to perform rWGS and deliver precision medicine genomic results in a matter of days
  • How rWGS has been effective in real-world examples
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Stephen F. Kingsmore, MD, DSc
President and CEO, Rady Children’s Institute for Genomic Medicine

Stephen Kingsmore is the founding President/CEO of Rady Children’s Institute for Genomic Medicine, where he leads a multidisciplinary team of scientists, physicians, and researchers who are pioneering the use of rapid whole-genome sequencing to enable precise diagnoses for critically ill newborns and children with rare diseases of unknown etiology. In February 2018, under his direction, RCIGM achieved the world speed record for fastest molecular diagnosis using whole-genome sequencing in just 19.5 hours. Prior to leading RCIGM, he was the Dee Lyons/Missouri Endowed Chair in Genomic Medicine at the University of Missouri-Kansas City School of Medicine and Director of the Center for Pediatric Genomic Medicine at Children’s Mercy Hospital.

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Katarzyna (Kasia) Ellsworth, PhD, FACMG
Associate Lab Director, Rady Children’s Institute for Genomic Medicine

Kasia Ellsworth is an associate laboratory director at the Rady Children’s Institute for Genomic Medicine. She has completed fellowships in both clinical biochemical genetics and clinical molecular genetics at the Greenwood Genetic Center and is certified by the American Board of Medical Genetics and Genomics (ABMGG) in both specialties. She earned her PhD in Molecular Pharmacology and Experimental Therapeutics at the Mayo Clinic College of Medicine. She is an active member of the American Society of Human Genetics and is a fellow of the American College of Medical Genetics and Genomics.

Mark Kiel, MD, PhD, Chief Science Officer, Genomenon

Mark Kiel completed his MD Ph.D. and Molecular Genetic Pathology Fellowship at the University of Michigan, where his research focused on stem cell biology, genomic profiling of hematopoietic malignancies, and clinical bioinformatics. He is the founder and CSO of Genomenon, where he supervises the scientific direction of the Mastermind suite of software tools.