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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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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

Design and Reporting Considerations for Genetic Screening Tests.

Jill Hagenkord¹, Birgit Funke², Emily Qian³

¹MDisrupt, San Jose, California.

The Journal of Molecular Diagnostics : JMD

|February 25, 2020

Summary

This summary is machine-generated.

Genetic screening for inherited diseases faces unique challenges due to unknown disease prevalence and validation difficulties. This review explores applying established screening principles to genomic testing for rare genetic conditions.

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Area of Science:

Genomics
Public Health
Medical Screening

Background:

Screening tests for asymptomatic individuals are common, with established development protocols.
Applying these principles to inherited diseases presents unique challenges, including unknown natural history and prevalence in unselected populations.

Purpose of the Study:

To review basic test design principles.
To apply these principles to the unique challenges of genetic screening for inherited diseases.

Main Methods:

Review of established screening test development principles.
Application of these principles to genetic screening strategies.
Discussion of challenges in clinical validation and predictive value calculation for genetic screening.

Main Results:

Accurate calculation of positive and negative predictive values for genetic screening is difficult due to lack of truth sets and confirmatory tests.
World Health Organization screening principles are challenging to meet for genetic screening of rare inherited diseases.

Conclusions:

Despite challenges in validation and prevalence data, genomic testing is increasingly pursued by individuals without clinical indications.
Reasonable estimates can be deduced to inform genetic screening test design strategies.
Adapting existing screening principles is crucial for advancing genetic screening.