Mendelian Disease Gene Identification and Diagnostics Using Targeted Next Generation Sequencing
Genetic Clinics 2015, October - December, Vol 8, Issue 4.
During the last few months we have observed for the first time since the introduction of the first massive parallel sequencers in 2007, that the cost of sequencing a human genome has not changed significantly (Figure 1) [Wetterstrand., 2015]. These numbers challenge a trend that has been maintained during years beating Moore’s law, and indicates that in the medium term we should not expect sequencing to be significantly cheaper until the next technological revolution arrives. This can have profound consequences in the genomics field, which has heavily relied during the last years on the fact that each sequencing run was cheaper than the last. Most of the recent big genomic achievements have been based on brute force experiments, made possible by the rapid technological advances. The present change of cycle would require more ingenious and elegant ideas to keep publishing interesting findings after the genomics boom of the last decade. So, it is time to fully exploit the potential of the current sequencing technologies, which are likely to be static for a while. Moreover, it is also time to tone down the rhetoric around the advent of $1000 human genomes and to start working seriously on the clinical translation of our research based on the technology that we currently have, not what we expect to have tomorrow [Hall, 2013].