New approach improves accuracy and reduces amount of DNA needed for testing.
When Complete Genomics announced a restructuring in June and the retention of an investment banker to consider strategic alternatives, it said it planned to focus on the development of clinical applications for its whole genome sequencing service. Now a study in Nature gives a boost to that plan as the company says its new technology will accelerate the use of whole genome sequencing as a clinical diagnostic tool.
The company said its Long Fragment Read or LFR technology for whole genome sequencing dramatically improves accuracy, significantly reduces the amount of DNA required for testing, while also revealing which genes are linked together.
“We expect the introduction of this technological breakthrough to accelerate the move of whole genome sequencing into patient care, which in turn will begin to change the face of medicine,” says Clifford Reid, CEO of Complete Genomics.
The technology represents a ten-fold increase in accuracy for Complete Genomics. The company’s chief scientific officer Rade Drmanac, inventor of the LFR technology, says it “is unmatched by any high-sensitivity method currently available.”
The Nature study says the technology, for the first time, allows for both accurate and cost-effective sequencing of a genome from a few human cells.
“This kind of information, obtained inexpensively for every patient, will be crucial for clinical use of genomic data,” the authors write in Nature.
“Moreover, successful and affordable diploid sequencing of a human genome starting from ten cells opens the possibility for comprehensive and accurate genetic screening of micro-biopsies from diverse tissue sources such as circulating tumor cells or pre-implantation embryos generated through in vitro fertilization.”
The company says, until now, determining whether two disease-associated variants were on the same or different parental chromosomes was either impossible or required expensive, low-throughput technologies, an approach often infeasible in a clinical environment.
The LFR technology not only enables an accurate identification of mutations, but shows which mutations are together on the same parental chromosome. That information is important because it allows a physician to determine whether a patient with two pathogenic variants in a gene is affected or merely a carrier of the trait.
By DANIEL S. LEVINE