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Genomics

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Method of Isolated Ex Vivo Lung Perfusion in a Rat Model: Lessons Learned from Developing a Rat EVLP Program

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Returning negative results to individuals in a genomic screening program: lessons learned.

Rita M Butterfield¹, James P Evans², Christine Rini³

¹Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina at, Chapel Hill, NC, USA. rbutterfield@unc.edu.

Genetics in Medicine : Official Journal of the American College of Medical Genetics

|June 8, 2018

Summary

Genomic screening for rare conditions revealed self-selection bias and communication challenges. Participants understood negative results but did not change health behaviors.

Keywords:

Ethical, legal, and social issues Genomic sequencing Population screening Returning results

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Last Updated: Feb 9, 2026

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Area of Science:

Genomics
Medical Screening
Public Health

Background:

Genomic screening for rare, medically actionable conditions in general populations presents novel communication challenges.
Participant self-selection based on risk perception can alter study populations and result interpretation.

Purpose of the Study:

Investigate self-selection bias in genomic screening based on perceived risk.
Assess participant understanding of negative screening results.
Evaluate psychosocial responses to genomic screening.
Determine if negative results influence health-related behaviors.

Main Methods:

Utilized data from the GeneScreen exploratory adult screening project.
Targeted 17 genes associated with 11 medically actionable conditions.
Addressed participant risk, result comprehension, psychosocial impact, and behavioral changes.

Main Results:

Observed disproportionate enrollment of individuals with elevated prior risk.
Identified a need for improved communication regarding screening and negative results.
Found no participant decision regret or reported intention to alter health behaviors.

Conclusions:

Genomic screening in unselected populations highlights challenges in managing self-selection and communicating results.
Effective communication strategies are crucial for the successful implementation of genomic screening in the general population.