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Related Concept Videos

Genetic Screens02:46

Genetic Screens

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 result in visible changes...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

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...
Genomics02:02

Genomics

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...
Pharmacogenetics and Pharmacogenomics: Overview01:29

Pharmacogenetics and Pharmacogenomics: Overview

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...
Next-generation Sequencing03:00

Next-generation Sequencing

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.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.

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Related Experiment Video

Updated: Jun 10, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

Genomics to Enhance Newborn Screening ?

Alban Ziegler1, Wendy K Chung2

  • 1Department of Genetics, University Hospital of Toulouse, Toulouse, France.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|June 9, 2026
PubMed
Summary
This summary is machine-generated.

Genomic newborn screening uses DNA sequencing to detect genetic conditions early. This approach expands screening capabilities and offers flexibility for future disease inclusion, improving public health.

Keywords:
GUARDIANGene based therapiesGenomic newborn screeningNewborn screeningScope

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Last Updated: Jun 10, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

Area of Science:

  • Genomics
  • Public Health
  • Medical Diagnostics

Background:

  • Newborn screening is a vital public health initiative for early detection of serious medical conditions.
  • Screening platforms have evolved, with tandem mass spectrometry being a key innovation.
  • Genomic newborn screening offers a new platform using DNA sequencing for improved detection of genetic conditions.

Purpose of the Study:

  • To explore the potential of genomic newborn screening as a first-tier test.
  • To assess the feasibility and parental acceptance of genomic newborn screening.
  • To identify challenges and requirements for successful implementation of genomic newborn screening.

Main Methods:

  • Utilizing genomic DNA sequencing as a primary screening method.
  • Analyzing data from global pilot studies on genomic newborn screening.
  • Evaluating challenges including variant interpretation, physiological assessment, penetrance estimation, and turnaround times.

Main Results:

  • Pilot studies demonstrate the feasibility and high parental uptake of genomic newborn screening.
  • Key challenges identified include variant interpretation across diverse ancestries, physiological assessment, and penetrance estimation.
  • The need for rapid turnaround times, scalability, cost reduction, and health economic data is highlighted.

Conclusions:

  • Genomic newborn screening has the potential to significantly expand the scope of detectable conditions and improve child health.
  • Successful implementation requires dedicated national infrastructure for sequencing, interpretation, and follow-up.
  • International collaboration and data sharing are crucial for optimizing genomic newborn screening systems while balancing privacy concerns.