Kingsmore Has Done it Again: Rady Children’s Set Guinness World Record for Genetic Diagnosis
It took 13 years to build the first full set of genetic blueprints for the human race by sequencing the DNA inside our cells that govern everything from eye colour to risk of debilitating disease. But Stephen Kingsmore and his team at Rady Children’s Institute for Genomic medicine, working closely with Illumina, just proved it’s possible to get the job done in just 19.5 hours.
This is the second high-speed, whole genome sequencing world record for Rady’s Dr. Stephen Kingsmore. The previous record he led was set at 26 hours in 2015.
This time, a team of researchers were able to chop 6.5 hours off the record by using Illumina’s NovaSeq 6000 Sequencing System, which is known for being able to identify all 3 billion pairs of molecules in a patient’s DNA in about 15 hours.
“What we’re able to do here is something that can save the life of a critically ill newborn baby or young child. We’re able to give doctors the information they need so they can accurately and precisely treat exactly that child’s genetic condition,” Stephen Kingsmore, President and CEO of Rady’s Children’s said.
Working directly with Illumina engineers, the Institute was able to use a new generation of high-density flow cells, which hold snippets of DNA while they’re scanned with a laser so that they can be reassembled in digital form for analysis.
Though Rady is on the forefront of the world record, Kingsmore said most of the credit goes to Illumina, which also helped his team with the record-breaking attempt back in 2015.
“… not only is it a new Guinness world records title, but this is going to save the lives of many, many children, and that’s what makes it really special,” Michael Empric, Adjudicator of Guinness World Records said.
To hit the 19.5-hour speed record, the research team used special “natural language processing” software from Clinithink Limited, to automatically extract important information from patient’s electronic medical records. They also used a software package from Diploid that uses artificial intelligence to spot genetic mutations within sequenced genomic data and make a preliminary diagnosis in about 4 minutes.
Edico Genome’s DRAGEN processing system was also in the mix, significantly increasing the speed of mapping and aligning the genomic data once it had been sequenced. Software made by FABRIC Genomics was also key in helping find the correct genetic cause of illnesses.
“What Stephen and his team have achieved today is a real big step in genomic history with sequencing the genome in a little bit over 19 hours. This will open the door for genomics to have a major impact in clinical care and the adoption of genomics into medicine,” Martin Reese, CEO and Founder of Fabric Genomics said.
“We’re pushing the boundaries of performance and speed, but for a very good reason – to be able to make the lives of these children better, and what we’re doing here has got this knock-on effect that will naturally affect the lives of people all over the world,” Gavin Stone, VP Corporate Development, Edico Genome said.