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Updated: Oct 5, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Public interest in unexpected genomic findings: a survey study identifying aspects of sequencing attitudes that
Holly Etchegary1, Daryl Pullman2, Charlene Simmonds3
1Faculty of Medicine, Memorial University, 300 Price Phillip Parkway, Craig L. Dobbin Centre for Genetics, Rm 4M210, St. John's, NL, A1B 3V6, Canada. holly.etchegary@med.mun.ca.
Abstract:
We describe public preferences for unexpected genomic findings and explore predictors of preferences using an online survey in an Eastern Canadian province. Items measuring attitudes toward features of unexpected findings and genomic sequencing concerns were entered in logistic regression models predicting interest in unexpected findings. Very high levels of interest were observed in unexpected findings for treatable disorders and carrier results, with lesser interest in unexpected findings for non-treatable disorders and unclassified variants. Respondents who endorsed items measuring features of patient control and choice over their genomic data and testing options were 3-5 times more likely to be very interested in receiving unexpected findings. Respondents with high genomic sequencing concerns were less interested in the return of any unexpected result. Self-reported history of a genetic condition was significantly related to interest in receiving most categories of unexpected genomic information, while prior use of direct-to-consumer testing was significantly related only to interest in the return of unexpected genomic findings for disorders not currently treatable. Findings highlight the need for specific elements of information and transparency regarding the return of unexpected findings and can inform the development of patient-centered materials and return of results policies.
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