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Related Concept Videos

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.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
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Genomics02:02

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Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
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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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Pharmacogenomics: Identification of New Drug Targets01:29

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Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
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Pharmacogenetics and Pharmacogenomics: Overview01:29

Pharmacogenetics and Pharmacogenomics: Overview

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Pharmacogenetics and pharmacogenomics examine how genetic factors influence an individual's response to drugs. While pharmacogenetics focuses on the impact of specific genetic variants on drug effects, pharmacogenomics takes a broader approach, studying how genetic variation across populations contributes to differences in drug responses. These fields aim to explain why individuals may experience varying levels of efficacy or adverse reactions to the same medication.Variability in drug...
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Related Experiment Video

Updated: Mar 13, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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Newborn screening in the genomics era.

Shannon Rego1

  • 1Stanford University, CA 94305, USA.

Journal of Law and the Biosciences
|October 16, 2014
PubMed
Summary

Newborn screening (NBS) currently uses biochemical markers. Whole-genome newborn screening (WG-NBS) using whole-genome sequencing (WGS) offers more genetic information but requires significant preparation for healthcare and data management.

Area of Science:

  • Genetics
  • Genomics
  • Public Health

Background:

  • Newborn screening (NBS) identifies genetic disorders in newborns not evident at birth.
  • Current NBS relies on biochemical markers, not direct genetic mutation testing.
  • Advancements in whole-genome sequencing (WGS) technology are making it more accessible.

Purpose of the Study:

  • To explore the potential of whole-genome newborn screening (WG-NBS) as an alternative to current NBS methods.
  • To discuss the implications, both positive and negative, of expanding NBS with WGS.
  • To examine the challenges and considerations for implementing WG-NBS.

Main Methods:

  • Review of current NBS practices.
  • Analysis of the technological advancements in WGS.
Keywords:
newborn screeningwhole-genome sequencing

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  • Discussion of the principles of public health screening.
  • Exploration of potential healthcare and data management infrastructure needs.

    • Main Results:

    • WG-NBS could provide significantly more genetic information than current NBS.
    • The transition to WG-NBS may conflict with established public health screening principles.
    • Insufficient preparation could lead to inadequate healthcare and data management infrastructure.

    Conclusions:

    • WG-NBS presents a future possibility for newborn screening due to decreasing WGS costs.
    • Careful planning is essential to address the challenges and ensure successful implementation of WG-NBS.
    • The article provides a historical perspective and forward-looking considerations for WG-NBS.