Dr. Stephen Kingsmore sets Guinness world record for fastest genetic diagnosis
April 25, 2016 – SAN DIEGO. Stephen Kingsmore, M.D., D.Sc., president and CEO of Rady Children’s Institute for Genomic Medicine at Rady Children’s Hospital – San Diego, is the official title holder of the Guinness World Records® designation for fastest genetic diagnosis, which he accomplished by successfully diagnosing critically ill newborns in just 26 hours, as published in the journal Genome Medicine.
The feat was made possible by several time-shrinking technologies, including Edico Genome’s genomic data-crunching computer chip, DRAGEN, and one of Illumina’s high-throughput sequencing instruments. In addition, other parameters of the sequencing process were optimized.
Dr. Kingsmore achieved this Guinness World Records title while serving as executive director of Medical Panomics at Children’s Mercy Kansas City; he will implement the enabling technologies at the new Rady Children’s Institute for Genomic Medicine. Today’s celebration in San Diego, often called “the genomics capital of the world,” is being held on National DNA Day, which commemorates the completion of the Human Genome Project and the discovery of DNA’s double helix.
“Diagnosing acutely ill babies is a race against the clock, which is why it’s so essential for physicians to have access to technology that will provide answers faster and help set the course of treatment,” Dr. Kingsmore said. “My work at Children’s Mercy Kansas City that led to this recognition would not have been possible without our key technology partners Edico Genome and Illumina, who share a vision for unraveling mysteries of disease and giving hope to families with ill newborns. I look forward to collaborating with both parties to implement this approach at Rady Children’s Institute for Genomic Medicine and ultimately neonatal and pediatric intensive care units across the country.”
Up to one-third of babies admitted to a neonatal intensive care unit in the United States have a genetic disease, and more than 20 percent of infant deaths are caused by genetic illnesses. Treatments are currently available for more than 500 genetic diseases; for about 70 of these, initiation of therapy in newborns can help prevent disabilities and life-threatening illnesses. The cost of whole-genome sequencing has fallen to the point of feasibility for clinical testing of these and other conditions, and a new bioinformatics chip for genomic data is reducing time needed for analysis, facilitating the use of genomic medicine in acute medical care.
“San Diego is home to world’s brightest minds that are leading the world in creating innovative technologies and generating life-saving research,” said Mayor Kevin L. Faulconer. “Dr. Kingsmore’s work in genomics represents some of the best of what San Diego has to offer. On behalf of the City of San Diego, congratulations to Dr. Kingsmore, Rady Children’s Hospital and all of those involved for accomplishing something that has never been done before. This work reaffirms San Diego’s position as the Genomics Capital of the World.”
“Illumina has achieved many firsts in its history as the global leader of DNA sequencing technology, but this historic initiative is one we’re particularly honored to be part of,” said Kevin Hall, D. Phil, senior director of sequencing systems for Illumina. “We congratulate Dr. Kingsmore, the team at Edico Genome and others who are working to advance the practice of medicine.”
“A growing hurdle for genomic medicine is the time required to analyze big data generated by sequencing instruments, a need that is clearly illustrated by the plight of critically ill newborns,” said Pieter van Rooyen, Ph.D., chief executive officer of Edico Genome. “We applaud Dr. Kingsmore’s tireless work to find rapid answers for newborns and families desperately searching for diagnoses. We are proud that our DRAGEN bio-IT processor could play a role in this milestone for genomic medicine.”
SOURCE Edico Genome