Whole Genome Sequencing Time Cut to Just 26 Hours

Human genetic material
Whole genome sequencing can be the difference between life and death for newborns suffering from genetic diseases. A new sequencing procedure cuts down the time involved from 50 hours to just 26. Michael Dalder/Reuters

Scientists have cut the time required for sequencing a full human genome and getting a diagnosis for any known genetic diseases down to 26 hours. The advance could save the lives of critically ill children.

Popular Science reported that researchers from Children's Mercy Hospital in Missouri, working with the California biotech company Edico Genome, have developed a technique which almost halves the 50 hours currently required to carry out whole genome sequencing (WGS) and provide an accurate diagnosis for genetic disorders.

The research, published in the journal Genome Medicine on Tuesday, could have a profound impact on children with literally hours to live, according to Stephen Kingsmore, president of the Rady Pediatric Genomics and Systems Medicine Institute in California and the study's lead author. WGS is a crucial tool in the diagnosis of genetic diseases, particularly in newborn babies and infants who are unable to communicate their symptoms to doctors. Almost 30 percent of all postnatal mortality in developed countries is due to genetic defects.

"In some babies, we have minutes or hours. If a baby's blood sugar is low, basically you are counting the number of minutes without sugar...In those cases, any delays result in disease complications," Kingsmore said, according to Popular Science.

In order to speed up the procedure, the team designed a custom-built data-processing machine they called DRAGEN. It's the first hardware system designed specifically for genomic data analysis, and was able to cut down data analysis time from 22.5 hours to 41 minutes. Specialized software cut another 10 hours off the total process.

The technique is yet to be tested in a hospital setting, but the researchers used it to sequence the genomes of 35 infants who were critically ill and less than four months old. They compared those results to those gathered from the traditional, 50 hour method, and found that their rapid-testing tools were comparable. The new technique provided an accurate genetic diagnosis in 57 percent of cases, which, Kingsmore told Newsweek via email, is "better than other methods currently available." Researchers, he says, "will continue to work to improve these methods" to get even more accurate diagnoses.

Gavin Stone, vice-president of marketing at Edico, says that the technology can also be applied to cancer diagnosis and medical research. "In the short-term, definitely [it can help] critically ill newborns but it's a technology which can be more broadly applied in other areas," says Stone.

Kingsmore says that the software for interpreting genomic data should be available for public use before the end of the year. In the meanwhile, he and his colleagues will be testing the method in a real-world clinical setting at Rady's Children's Hospital in San Diego, California.