Current Ethical Issues Related to the Implementation of Whole-Exome and Whole-Genome Sequencing

Abstract

We have briefl y discussed herein four of the many aspects that raise concerns in the context of implementation of whole-exome and whole-genome sequencing (mainly) in the clinical realm. Namely, we addressed issues surround-ing: (1) the duty to hunt for variants known to have a health impact, (2) such " hunt-ing " or opportunistic screening in children, (3) challenges to the consent process, and (4) the commercialization of genetic testing direct to consumer. Keywords Whole-exome sequencing (WES) • Whole-genome sequencing (WGS) • Genomic variants • Genetic testing • Opportunistic screening • Hereditary diseases • Informed consent • Direct-to-consumer (DTC) genetic testing • Undiagnosed genetic conditions