Direct Genomics, a Shenzhen, China-based sequencing company, is mounting a chal- lenge to San Diego-based Illumina and other sequencing giants with a low-cost sequencer for clinical use. Last October, the company launched its GenoCare analyzer, a single- molecule genome sequencer specifically for clinical applications. Since then, competition in the genomic sequencing spaces has contin- ued to heat up. In January, at the JP Morgan Healthcare conference in San Francisco, Illumina launched the MiniSeq System, an integrated benchtop analyser designed for clinical diagnosis, which will begin shipping the this quarter.
With the rapid decline in cost of sequencing, it is now affordable to examine multiple genes in a single disease-targeted clinical test using next generation sequencing. Current targeted sequencing methods require a separate step of targeted capture enrichment during sample preparation before sequencing. Although there are fast sample preparation methods available in market, the library preparation process is still relatively complicated for physicians to use routinely. Here, we introduced an amplification-free Single Molecule Targeted Sequencing (SMTS) technology, which combined targeted capture and sequencing in one step. We demonstrated that this technology can detect low-frequency mutations using artificially synthesized DNA sample. SMTS has several potential advantages, including simple sample preparation thus no biases and errors are introduced by PCR reaction. SMTS has the potential to be an easy and quick sequencing technology for clinical diagnosis such as cancer gene mutation detection, infectious disease detection, inherited condition screening and noninvasive prenatal diagnosis.