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Related Concept Videos

Next-generation Sequencing03:00

Next-generation Sequencing

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The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
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Although all next-generation methods use different technologies, they all share a set of standard features....
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Genetic Screens02:46

Genetic Screens

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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
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Updated: Jun 9, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions.

Alban Ziegler1, Carrie Koval-Burt1, Denise M Kay2

  • 1Department of Pediatrics, Columbia University Irving Medical Center, New York, New York.

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|October 24, 2024
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Summary
This summary is machine-generated.

Genomic newborn screening (NBS) is feasible across diverse populations, identifying treatable conditions beyond current methods. Further research will assess generalizability and impact on health outcomes.

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Area of Science:

  • Genomics
  • Public Health
  • Neonatal Medicine

Background:

  • Traditional newborn screening (NBS) faces limitations in identifying all genetic conditions.
  • The feasibility of genome sequencing for NBS in diverse racial and ethnic groups is not well understood.

Purpose of the Study:

  • To evaluate the acceptability, feasibility, and outcomes of genomic NBS in a diverse New York City population.
  • To report interim results from the Genomic Uniform-screening Against Rare Disease in All Newborns (GUARDIAN) study.

Main Methods:

  • Prospective, observational study involving genome sequencing for 156 early-onset genetic conditions and optional screening for 99 neurodevelopmental disorders.
  • Enrolled 4000 newborns from diverse racial and ethnic backgrounds in New York City.
  • Collected parent-reported race and ethnicity data.

Main Results:

  • Achieved a 72.0% consent rate, with enrolled participants reflecting NYC's diversity.
  • Successful sequencing completion rate of 99.6%.
  • Reported a 3.7% screen-positive rate, identifying conditions not currently in NBS.

Conclusions:

  • Targeted genome sequencing is feasible for NBS in diverse populations.
  • Genomic NBS can supplement existing screening by identifying additional treatable conditions.
  • Further studies are needed to confirm generalizability and clinical impact.