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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 result in visible changes...

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Related Experiment Video

Updated: Jun 19, 2026

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Published on: April 11, 2016

Navigating an Uninformative Genomic Test Result: A Practical Guide.

Laura St Clair¹, Claire Wong^1,2, Christopher Elliot³

¹Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney Children's Hospitals Network, Westmead, NSW, Australia.

Journal of Paediatrics and Child Health

|February 3, 2025

Summary

This summary is machine-generated.

Over half of genomic tests yield uninformative results for genetic conditions. This guide helps pediatricians navigate these outcomes and explore further diagnostic pathways for patients.

Keywords:

genetic counselling genetic testing genomics paediatrics

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Last Updated: Jun 19, 2026

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Published on: April 11, 2016

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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

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Published on: August 15, 2019

Area of Science:

Genetics
Pediatrics
Medical Diagnostics

Background:

Genomic testing is a standard diagnostic tool for genetic conditions in children and adults.
More than 50% of genomic tests provide uninformative results, hindering diagnosis.

Purpose of the Study:

To offer a practical guide for pediatricians on managing uninformative genomic test results.
To outline potential diagnostic pathways for uncovering genetic diagnoses in patients with uninformative results.

Main Methods:

Guidance developed through input from genetic counselors, literature review, and a general pediatrician.
A hypothetical case vignette is included to illustrate patient management options.

Main Results:

Uninformative results can stem from incomplete phenotyping, novel genetic mechanisms needing specialized tests, or current knowledge gaps.
Understanding the limitations of genomic testing is crucial when interpreting uninformative results.

Conclusions:

Pediatricians are vital in supporting families during the diagnostic journey.
Key roles include reassessing patient phenotypes, seeking sub-specialty consultations, and exploring alternative testing or research opportunities with genetics services.