‘Whole exome sequencing’ in de dagelijkse praktijk

Mogelijkheden, grenzen en valkuilen van deze diagnostiek
Arjan Bouman, Alice S. Brooks en Marjon A. van Slegtenhorst

Whole Exome Sequencing in daily practice: the possibilities and impossibilities of this diagnostic test

Whole Exome Sequencing (WES) is becoming a standard diagnostic tool for patients who potentially suffer from an underlying monogenic condition. This is illustrated by the use of WES panels for specific medical conditions; in such instances, analysis is focused on a subset of genes that can be implicated in the pathogenesis of a condition such as epilepsy, intellectual disability, cardiomyopathy, etc. Physicians requesting WES diagnostics should be informed about the possibilities, limitations and pitfalls of this test. Here, we give a short introduction on the background of WES and also explain its potential in today’s practice. In addition, we will discuss the limitations of WES and the WES classification system, which is used to indicate the pathogenic character of identified gene variants, will be further explained. We expect that WES will soon become a standard diagnostic tool for physicians from many disciplines.

Conflict of interest and financial support: none declared.