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Related Concept Videos

CRISPR01:59

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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...
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Genetic Screens02:46

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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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Updated: Jun 25, 2026

FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 24, 2011

Expanded newborn screening: implications for genomic medicine.

Linda L McCabe1, Edward R B McCabe

  • 1Departments of Human Genetics and Pediatrics, David Geffen School of Medicine at the University of California, Los Angeles 90095, USA. lmccabe@mednet.ucla.edu

Annual Review of Medicine
|January 12, 2008
PubMed
Summary
This summary is machine-generated.

Newborn screening (NBS), the largest genetic test volume, has a 45-year history. Advances like tandem mass spectrometry (MS/MS) expanded testing, highlighting the system

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Area of Science:

  • Genetics
  • Public Health
  • Genomic Medicine

Background:

  • Newborn screening (NBS) is the largest application of genetic testing.
  • NBS has a 45-year history, underscoring the need for an evidence base.
  • The integration of tandem mass spectrometry (MS/MS) significantly increased NBS test volume.

Purpose of the Study:

  • To review the history and impact of NBS.
  • To highlight lessons learned from NBS implementation.
  • To discuss the implications of NBS for the future of genomic medicine.

Main Methods:

  • Historical review of NBS programs.
  • Analysis of the impact of technological advancements, specifically MS/MS.
  • Examination of the broader NBS system beyond laboratory testing.

Main Results:

  • NBS has a substantial history demonstrating its benefits.
  • Tandem mass spectrometry (MS/MS) has led to a fivefold increase in NBS tests.
  • Effective NBS requires more than just laboratory diagnostics; it involves a comprehensive system.

Conclusions:

  • Lessons from NBS are crucial for advancing predictive, preventive, and personalized genomic medicine.
  • The evolution of NBS demonstrates the importance of robust evidence and system-wide approaches.
  • NBS serves as a model for integrating genetic insights into healthcare.