3 Topic Commentaries

Rapid WGS Improves Pediatric Diagnosis

Rapid WGS Improves Pediatric Diagnosis

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  Whitney S. Thompson, MD, MPhil

  Neonatology; Clinical Genomics

  •

  Mayo Clinic

  Whole-genome sequencing (WGS) completed in days instead of months has helped the NICU streamline the diagnostic process and avoid unnecessary — and sometimes invasive — testing.

  Source
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  Arthur D’Harlingue, MD

  Neonatology

  •

  UCSF Benioff Children’s Hospital Oakland

  “Without rapid testing, it can take months or even years for babies with unusual symptoms to get diagnosed,” said Arthur D’Harlingue, MD, director of neonatology at UCSF Benioff Children’s Hospital Oakland. “Sometimes the testing leads to treatment that can be lifesaving. Almost always, it gives families information they need to make decisions about next steps.”

  Source
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  James Priest, MD

  Pediatric Cardiology

  •

  Stanford University School of Medicine

  We realized how sick this child was," Priest said, "and we had a new tool - rapid whole-genome sequencing - that could make a faster and more comprehensive diagnosis than the available clinical genetic testing. So that night I went and talked to the parents and the rest of the team, collected a blood sample and we started the test.

  Source