The machine is based on the Helicos technology, using sequencing by synthesis and detection of single-molecule fluorescence using total reflexion microscopy. In a test on E. coli genome sequencing where the GenoCare device was tested against Illumina’s MiSeq, reading accuracy of both instruments was comparable, but usable read length of the GenoCare was only 29 as compared to the MiSeq 146 bases. Direct Genomics plans to compensate this disadvantage by targeting specific genomic sequences by probes immobilized to the flow cell. This would qualify the instruments in particular for clinical tests such as non-invasive preimplantantation assays (NIPT) or of tumor-specific markers. Direct Genomics CEO Jiankui HE, backed by venture capital, claims to be able to build and sell 1000 units of GenoCare per year in China
China Bio, September 6, 2017