Scientists have figured out how to cut the time it takes to sequence a human genome nearly in half.
Researchers from Children’s Mercy Hospital in Kansas City, MO and Edico Genome, a biotech company, have devised a way to sequencing a human genome in just 26 hours. The previous fastest device took about 50 hours to complete and was developed by the same group. In a paper published this week in the journal Genome Medicine, the researchers note that cutting down the time it takes to perform a whole genome sequencing could mean the difference between life and death for some patients.
“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,” lead author Stephen Kingsmore tells Claire Maldarelli for Popular Science. “In those cases, any delays can result in disease complications.”
While the machine can be used to help diagnose older patients in need of acute care for diseases like cancer, infants don’t have the ability to tell a doctor where they hurt or what feels wrong. And it’s not an uncommon problem – according to Newsweek’s Conor Gaffey, genetic defects are responsible for almost 30 percent of postnatal deaths in developed countries.
In order to speed up the processing time, the scientists custom-built the first data processor to ever be solely designed for genome sequencing, called DRAGEN. Using DRAGEN Kingsmore and his colleagues were able to cut data analysis time from 22.1 hours down to 41 minutes using the machine, Maldarelli writes.
“At the end of the day, we have to deliver the information to generalist physicians in a way that they can grab it and use it,” Kingsmore tells Maldarelli.
After using DRAGEN to sequence the genetic codes of 35 babies under four months old, the group said that they were not only getting results comparable to the 50-hour method, but the cost of the analysis would drop significantly. By using current technology and reducing the number of technicians needed to operate the device and analyze the data, DRAGEN could lower the cost of genetic sequencing from about $3 million to $6,500 per test, Maldarelli writes. Kingsmore believes that artificial intelligence might eventually be incorporated into the system to further speed up data analysis and translation.
While the device hasn’t been used in a hospital setting yet, Kingsmore and his group are embarking on a three-month trial period at Children’s Mercy, as well as Rady’s Children’s Hospital in San Diego, where Kingsmore is CEO of the hospital’s Pediatric Genomics and Systems Medicine Institute. If DRAGEN works as well in the field as it did in the lab, Kingsmore says it could be ready for public use by the end of the year.