Enabling large-scale genomics and precision medicine – Part 1

Jun 23, 2020

The rise of Whole Genome, Whole Exome and virtual panels

Instead of each time we need to do a genomic-related test, a patient’s sample is taken to sequence a gene panel – which is about 90% of the market – we keep a broader genomic information sample – A Whole Exome of Whole Genome, and sample and sequence it only once. This larger portion is then sequenced fully, and each query that you do today or in the future becomes digital and virtual, removing a costly and time consuming step of the process. The patient then receives his diagnosis faster– which can sometimes be critical.

Though not all disorders along one’s life can be inferred using Whole Genome material, as some might be evolving and not present at the time of the initial sequencing, over 50’000 tests (see table 1 below) can be made virtually using WG. As a positive consequence, the traditional sampling – called the wet lab part, which is costly and time consuming, can be greatly reduced to simplify this process.