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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...
Behavioral Genetics and Its Designs01:23

Behavioral Genetics and Its Designs

Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
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...
CRISPR01:59

CRISPR

Genome editing technologies allow scientists to modify an organism’s DNA via the addition, removal, or rearrangement of genetic material at specific genomic locations. These types of techniques could potentially be used to cure genetic disorders such as hemophilia and sickle cell anemia. One popular and widely used DNA-editing research tool that could lead to safe and effective cures for genetic disorders is the CRISPR-Cas9 system. CRISPR-Cas9 stands for Clustered Regularly Interspaced Short...
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
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...

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Related Experiment Video

Updated: Jul 15, 2026

FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

Perspectives on genomic newborn screening studies: design, implementation, and outcomes.

Mehmet Bugrahan Duz1,2, Wendy K Chung3,4

  • 1Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.

Pediatric Research
|July 13, 2026
PubMed
Summary

Genomic newborn screening (gNBS) is feasible, expanding the detection of treatable genetic conditions and improving diagnostic accuracy. Global studies show promise for gNBS implementation, guiding future policy and clinical practice.

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Area of Science:

  • Genomics
  • Medical Genetics
  • Public Health

Background:

  • Genomic newborn screening (gNBS) is increasingly feasible due to lower sequencing costs and improved genetic variation interpretation.
  • The field is actively developing protocols for gene/variant selection, parent/physician communication, result confirmation, and clinical management.
  • Global gNBS studies are exploring various aspects, from recruitment and consent to technical methods and clinical outcomes.

Purpose of the Study:

  • To review and summarize global genomic newborn screening (gNBS) studies.
  • To highlight key differences in study designs, technical approaches, and clinical implementation.
  • To provide evidence supporting gNBS implementation for future policy and practice.

Main Methods:

  • Comprehensive review of global gNBS studies.
  • Analysis of recruitment, consent, sample types, sequencing, gene selection, and variant interpretation.
  • Evaluation of reporting, turnaround times, result return, and confirmatory testing.

Main Results:

  • Early experiences confirm the feasibility and positive clinical impact of gNBS.
  • gNBS expands screening for treatable genetic conditions beyond standard newborn screening (stdNBS).
  • gNBS enhances the diagnostic accuracy compared to stdNBS.

Conclusions:

  • Genomic newborn screening is a feasible approach to identify treatable genetic disorders.
  • Variability in current gNBS study designs necessitates optimization for broad implementation.
  • Evidence summarized supports the integration of gNBS into clinical practice and policy development.