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Article: Genome Sequencing for Newborn Screening

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Article: Genome Sequencing for Newborn Screening

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Questions and Answers

What is the specificity of the NBS-rWGS for 388 disorders?

99.7%

How many critically ill infants could have completely avoided symptoms with the NBS-rWGS?

Seven

What is the sensitivity of the NBS-rWGS for 388 disorders?

88.8%

What is the title of the article and the name of the corresponding author?

ARTICLE A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases by Stephen F. Kingsmore Signup and view all the answers

What is the publication date of the article?

September 1, 2022 Signup and view all the answers

How many critically ill infants could have partially avoided symptoms with the NBS-rWGS?

13 Signup and view all the answers

What is the purpose of rapid whole-genome sequencing (rWGS) in the context of newborn screening (NBS)?

To provide comprehensive NBS by examining almost all genetic diseases and gaining acceptance for genetic disease diagnosis in ill newborns. Signup and view all the answers

How many genetic diseases were reviewed for NBS-rWGS using established criteria and the Delphi method?

457 Signup and view all the answers

What was the true negative rate (specificity) of simulated NBS-rWGS in 454,707 UK Biobank subjects with 29,865 pathogenic or likely pathogenic variants associated with 388 disorders?

99.7% Signup and view all the answers

How many critically ill children and their parents were involved in the simulated NBS-rWGS for 388 disorders?

2,208 critically ill children and 2,168 parents Signup and view all the answers

What was the NBS-rWGS negative predictive value for the 388 disorders?

99.6% Signup and view all the answers

How many children with disorders were diagnosed retrospectively by NBS-rWGS that had been undetected by conventional NBS?

15 children Signup and view all the answers

According to the Delphi consensus, how many critically ill children could have completely avoided symptoms if NBS-rWGS-based interventions had been started on day of life 5?

7 critically ill children Signup and view all the answers

What is the annual number of newborns screened worldwide for NBS?

140 million Signup and view all the answers

What is the percentage of genetic diseases retained for NBS-rWGS after reviewing 457 diseases?

85% Signup and view all the answers

What is the purpose of inviting groups worldwide to refine the NBS-rWGS conditions and join to prospectively examine clinical utility and cost effectiveness?

To refine NBS-rWGS conditions and prospectively examine clinical utility and cost effectiveness. Signup and view all the answers