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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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Updated: May 25, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

Quality standards and samples in genetic testing.

David Ravine¹, Graeme Suthers

¹School of Pathology and Laboratory Medicine, University of Western Australia, Perth, Western Australia, Australia.

Journal of Clinical Pathology

|January 20, 2012

Summary

This summary is machine-generated.

Accurate medical lab results are vital. Preanalytical errors in genetic testing, particularly during sample collection, pose significant risks due to limited verification, impacting patient care and legal outcomes.

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Last Updated: May 25, 2026

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Area of Science:

Clinical Diagnostics
Laboratory Medicine
Genetics

Background:

Accurate medical laboratory results are paramount for patient safety and effective healthcare.
Quality assurance programs have significantly reduced analytical errors in laboratories.

Observation:

Transfusion medicine data shows most remaining errors occur in preanalytical phases, especially test ordering and sample collection.
Genetic testing results often lack immediate verification, similar to pretransfusion testing.

Findings:

A substantial proportion of genetic testing outcomes cannot be independently verified.
Preanalytical errors in genetic testing, particularly sample collection, carry significant risks due to limited confirmatory data.

Implications:

Incorrect genetic test results can lead to irreversible interventions, inaccurate disease risk assessment, and legal consequences.
The increasing reliance on genetic findings for critical decisions necessitates a review of current standards to minimize preanalytical risks.