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

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How Clinicians Conceptualize "Actionability" in Genomic Screening.

Kellie Owens¹, Pamela Sankar², Dina M Asfaha³

¹Department of Population Health, New York University Grossman School of Medicine, New York, NY 10016, USA.

Journal of Personalized Medicine

|February 25, 2023

Summary

Defining "actionable" genetic data remains challenging in population screening. Clinicians disagree on evidence standards and appropriate clinical actions for genomic results in primary care.

Keywords:

actionability ethics genomic screening

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Last Updated: Aug 9, 2025

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

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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

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Published on: June 21, 2018

Area of Science:

Genomics
Clinical Genetics
Health Services Research

Background:

Actionability is a key framework for returning genetic data to patients.
Little consensus exists on defining "actionable" genetic information, especially in population screening.
The integration of genomic data into primary care involves complex social and political factors.

Purpose of the Study:

To explore the social dynamics influencing the integration of actionable genomic data into primary care.
To understand how genetics experts and primary care providers define and operationalize "actionable" genomic information.
To identify sources of disagreement regarding evidence standards and clinical actions for genomic screening.

Main Methods:

Semi-structured interviews were conducted with 35 genetics experts and primary care providers.
Qualitative analysis of interview data to explore varying definitions and operationalizations of actionability.
Examination of disagreements concerning evidence levels and available clinical actions.

Main Results:

Clinicians exhibit varied definitions and operationalizations of "actionable" genomic information.
Disagreements center on the required levels and types of evidence for actionable results.
Varied opinions exist on the necessary clinical actions to ensure patient benefit from genomic data.

Conclusions:

Nuanced policies are needed for actionable genomic data in primary care population screening.
Understanding clinician values and assumptions is crucial for developing these policies.
Addressing disagreements on evidence and clinical utility is essential for effective genomic data integration.