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Updated: Dec 17, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Public interest in whole genome sequencing and information needs: an online survey study
Holly Etchegary1, Brenda Wilson2, Proton Rahman3
1Faculty of Medicine, Memorial University, St John's, NL, Canada; Craig L. Dobbin Centre for Genetics, Rm 4M210, St John's, NL, A1B 3V6.
Abstract:
Aim: To survey the general public about whole genome sequencing interest, including pharmacogenomic testing, and to identify information important for sequencing decisions. Patients & methods: An online survey of 901 members of the general public in an eastern Canadian province. Results: Interest in whole genome sequencing, including pharmacogenomic testing, was high with few differences among demographic variables. Issues identified as very important to sequencing decisions included familial implications of testing, whether treatment was available for conditions tested and knowing who could access genomic information. Most respondents would value support when interpreting sequencing results. Conclusion: Findings reveal the kind of information and support users of sequencing services would value and could inform the implementation of sequencing into care in ways that accord with public preferences and needs.
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