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Genetic Screens

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...

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Author Spotlight: Advancing Neonatal Cardiac Diagnostics with Echocardiography-Derived Blood Speckle Imaging

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Newborn Screening: Beyond the Spot.

Tiina K Urv¹, Melissa A Parisi²

¹Division of Clinical Innovation, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA. urvtiin@mail.nih.gov.

Advances in Experimental Medicine and Biology

|December 8, 2017

Summary

This summary is machine-generated.

Newborn screening in the U.S. successfully reduces infant illness and death by testing for treatable conditions. Advances in genomic sequencing offer future potential, but ethical considerations are vital for program trust.

Keywords:

Early diagnosis Newborn screening Rare disease

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Area of Science:

Public Health
Genetics
Pediatrics

Background:

Newborn screening programs in the U.S. have significantly decreased infant morbidity and mortality.
Legislation established a framework for recommending and adding conditions to the Recommended Uniform Screening Panel (RUSP).
The RUSP currently includes 34 core conditions, with most states adopting these recommendations.

Purpose of the Study:

To review the success and evolution of the U.S. newborn screening system.
To discuss the process for adding new conditions to the RUSP.
To explore the future potential and ethical considerations of genomic sequencing in newborn screening.

Main Methods:

Analysis of legislative acts and advisory committee recommendations.
Review of state adoption of RUSP conditions.
Examination of the evidence-based review process for new conditions.
Discussion of federal and state partnerships in screening programs.
Consideration of technological advancements, including genomic sequencing.

Main Results:

Newborn screening has proven effective in reducing neonatal and childhood morbidity and mortality.
Most U.S. states screen for conditions on the RUSP, despite no federal mandate.
The review process for adding conditions to the RUSP has improved.
Collaboration among federal partners supports nationwide screening efforts.
Genomic sequencing presents future opportunities but requires careful ethical consideration.

Conclusions:

The U.S. newborn screening system is a public health success.
Ongoing collaboration and evidence-based reviews enhance screening effectiveness.
Integrating new technologies like genomic sequencing requires careful ethical evaluation to maintain public trust.