Related Experiment Video
Updated: Dec 27, 2025
09:30
Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
3.4K
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
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.
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.
