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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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Related Experiment Video

Updated: Sep 16, 2025

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

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Published on: June 25, 2010

Advances in Newborn Screening.

Cynthia M Powell¹

¹Department of Pediatrics, The University of North Carolina School of Medicine, Pediatric Genetics and Metabolism, CB#7487, Medical School Wing E, Chapel Hill, NC 27599-7487, USA.

Pediatric Clinics of North America

|July 6, 2025

Summary

This summary is machine-generated.

Newborn screening (NBS) saves lives by detecting conditions early. Expanding NBS with genomic sequencing offers potential but requires careful evaluation of benefits and harms before implementation.

Keywords:

ACMG ACT sheets Genomic newborn screening Newborn screening Recommended uniform screening panel

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Area of Science:

Public Health
Genomics
Pediatrics

Background:

Newborn screening (NBS) has been a highly successful public health initiative since the 1960s in the United States.
NBS enables early detection of diseases in newborns, facilitating timely treatment to prevent disability and save lives.

Purpose of the Study:

To discuss the potential expansion of newborn screening using genomic sequencing technologies.
To emphasize the need for caution and evidence generation regarding the benefits, harms, and overall impact of genomic NBS.

Main Methods:

This is a discussion paper, not an empirical study.
It reviews the history and success of current NBS programs.
It considers the implications of emerging genomic sequencing technologies for NBS.

Main Results:

Genomic sequencing offers the possibility of detecting a wider range of treatable conditions through NBS.
The decreasing cost of genomic sequencing makes its expansion into NBS feasible.

Conclusions:

While genomic NBS is promising for expanding early detection capabilities, it is crucial to proceed cautiously.
Further evidence on the benefits, harms, and societal impact is necessary before integrating genomic NBS into public health mandates.