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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: May 22, 2025

High Content Screening in Neurodegenerative Diseases

High Content Screening in Neurodegenerative Diseases

Published on: January 6, 2012

Genomic Screening at a Single Health System.

Juliann M Savatt¹, Melissa A Kelly¹, Amy C Sturm^1,2

¹Geisinger, Danville, Pennsylvania.

JAMA Network Open

|March 17, 2025

Summary

This summary is machine-generated.

Genomic screening identified medically actionable genetic risks in 1 in 30 individuals, with most unaware of their predisposition. This highlights the potential of genomic screening to improve disease prevention and management.

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Area of Science:

Genomic Medicine
Translational Genomics
Population Health Genomics

Background:

Genomic screening holds promise for transforming medicine by identifying actionable findings for disease prevention and management.
Despite its potential, genomic screening is largely confined to research and not yet integrated into routine clinical care.

Purpose of the Study:

To summarize 11 years of experience with genomic screening within a large health system.
To explore the landscape of current genomic screening efforts and their outcomes.

Main Methods:

A cohort study analyzed exome data from participants in Geisinger's MyCode Community Health Initiative.
Genomic screen-positive rates were evaluated by condition type and US CDC Tier 1 designation.
The proportion of participants unaware of their genomic results was assessed, and other large-scale genomic screening efforts were compiled.

Main Results:

3.4% of 175,500 participants with available exome sequencing had pathogenic variants in 81 disease-risk genes.
Of 5119 disclosed results, 44.2% were for cardiovascular disease, 39.7% for cancer, and 16.0% for other conditions.
Nearly 90% of participants were unaware of their genomic risk prior to disclosure; only 25% of surveyed biobanks returned actionable genomic results.

Conclusions:

Genomic screening is effective in identifying potentially actionable genomic findings in a significant portion of the population.
The majority of individuals identified with genetic risks were previously unaware, underscoring the value of proactive screening.
Most large-scale biobanks are not returning actionable genomic results, representing a missed opportunity for improved health outcomes and research.