SPECIAL ARTICLE OFFICIAL JOURNAL www.hgvs.org Reflecting on Earlier Experiences with Unsolicited Findings: Points to Consider for Next-Generation Sequencing and Informed Consent in Diagnostics

ABSTRACT: High-throughput nucleotide sequencing (often referred to as next-generation sequencing; NGS) is increasingly being chosen as a diagnostic tool for cases of expected but unresolved genetic origin. When explor-ing a higher number of genetic variants, there is a higher chance of detecting unsolicited findings. The consequen-tial increased need for decisions on disclosure of these unsolicited findings poses a challenge for the informed consent procedure. This article discusses the ethical and practical dilemmas encountered when contemplating in-formed consent for NGS in diagnostics from a multidis-ciplinary point of view. By exploring recent similar ex-periences with unsolicited findings in other settings, an attempt is made to describe what can be learned so far for implementing NGS in standard genetic diagnostics. Th