Abstract

Central to Watts and Newson’s argument in their seminal paper ‘ Is there a duty to routinely reinterpret genomic variant classifications? ’ is that diagnostic laboratories are not morally obligated to actively reinterpret variants of uncertain significance (VUS) due to the superior outcomes offered by next-generation sequencing (NGS) compared with traditional methods.1 NGS technologies can identify, analyse and interpret millions of genetic variations at once. For example, ‘the use of conventional molecular assays in clinical contexts could require doing a lot of assays for various mutations. Using these different assays, more tissue may be required. These targets can accurately be questioned using NGS technology in a single test.’2 If NGS-based genomic sequencing is reliable and its output outweighs the potential harm of uncertainties, then, it is plausible to say that those test providers cannot incur a moral duty to actively reinterpret VUS because there won’t be any need to do so.1 Despite its seeming reliability, diagnostic laboratories face enormous challenges in implementing NGS-based …