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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: Feb 24, 2026

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

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Fragile X Newborn Screening: Lessons Learned From a Multisite Screening Study.

Donald B Bailey¹, Elizabeth Berry-Kravis², Louise W Gane³

¹Center for Newborn Screening, Ethics, and Disability Studies, RTI International, Research Triangle Park, North Carolina; dbailey@rti.org.

|August 18, 2017

Summary

This summary is machine-generated.

Newborn screening for Fragile X syndrome (FXS) shows public acceptance but highlights challenges in obtaining informed consent shortly after birth. Further research is needed to determine the benefits of early identification for children and families.

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Area of Science:

Genetics
Pediatrics
Public Health

Background:

Delays in diagnosing Fragile X syndrome (FXS) prompt consideration of newborn screening.
Ethical concerns exist regarding carrier detection without early treatment for FXS.
A pilot screening study investigated the feasibility and implications of newborn screening for FXS.

Purpose of the Study:

To assess public acceptance of newborn screening for FXS.
To identify potential harms or adverse events associated with FXS newborn screening.
To determine the prevalence of FMR1 gene expansions and study the consent process.

Main Methods:

A voluntary screening program for FXS was offered to over 28,000 families across three birthing hospitals.
Data collected included public acceptance, consent rates, carrier prevalence, and adverse events.
Secondary objectives focused on the consent process, family follow-up, and early development of identified children.

Main Results:

The study yielded multiple publications detailing "lessons learned" from the screening process.
Key findings cover consent procedures, reasons for screening acceptance/declination, and decision aid effectiveness.
Prevalence of carriers, father participation, family follow-up, and maternal reactions were also documented.

Conclusions:

The pilot study demonstrated public acceptance of FXS newborn screening.
Significant challenges were identified in obtaining informed consent in the immediate postpartum period.
Findings provide a foundation for future research on the benefits of early FXS identification.