Dr. Stephen Kingsmore Sets Guinness World Records Title for Fastest Genetic Diagnosis
Celebration Held on National DNA Day in San Diego, the “Genomics Capital of the World”
SAN DIEGO, April 25, 2016 — 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.”
“As we celebrate this achievement we look forward to a future filled with dramatic advances in the field of genomics,” said David F. Hale, chairman, Rady Children’s Institute for Genomic Medicine. “San Diego’s vibrant biotech, research and life sciences communities provide the perfect environment for these innovations to happen.”
About Rady Children’s Institute for Genomic Medicine
Rady Children’s Institute for Genomic Medicine was founded by Rady Children’s Hospital – San Diego to bring together world-class scientists and clinicians into shared research infrastructure for accelerated translation of research discoveries into prevention, diagnosis, treatment and ultimately cures for childhood diseases. This integrated approach to precision medicine includes epigenomics, metabolomics and proteomics. This research provides a comprehensive view of a child’s health status and risk factors for disease.
About Rady Children’s Hospital-San Diego
Rady Children’s Hospital-San Diego is a 520-bed pediatric care facility providing the largest source of comprehensive pediatric medical services in San Diego, Southern Riverside and Imperial counties. Rady Children’s is the only hospital in the San Diego area dedicated exclusively to pediatric healthcare and is the region’s only designated pediatric trauma center. In June 2015, U.S. News & World Report ranked Rady Children’s among the best children’s hospitals in the nation in all ten pediatric specialties the magazine surveyed. Rady Children’s is a nonprofit organization that relies on donations to support its mission. For more information, visit www.rchsd.org and find us on Facebook, Twitter and Vimeo.
About Edico Genome
Edico Genome has created the world’s first bioinformatics processor designed to analyze next-generation sequencing data, DRAGEN™. The use of next-generation sequencing is growing at an unprecedented pace, creating a need for a technology that can process this big data rapidly and accurately. Edico Genome’s computing platform has been shown to speed whole genome data analysis from hours to minutes, while maintaining high accuracy and reducing costs, enabling clinicians and researchers to reveal answers more quickly. For more information, visit www.EdicoGenome.com or follow @EdicoGenome.
Illumina is improving human health by unlocking the power of the genome. Our focus on innovation has established us as the global leader in DNA sequencing and array-based technologies, serving customers in the research, clinical and applied markets. Our products are used for applications in the life sciences, oncology, reproductive health, agriculture and other emerging segments. To learn more, visit www.illumina.com and follow @illumina.
About Children’s Mercy Kansas City
Children’s Mercy, located in Kansas City, Mo., is one of the nation’s top pediatric medical centers. The 354-bed, not-for-profit hospital provides care for children from birth through the age of 21, and is ranked by U.S. News & World Report as one of “America’s Best Children’s Hospitals.” For the third time in a row, Children’s Mercy has achieved Magnet nursing designation, awarded to fewer than seven percent of all hospitals nationally, for excellence in quality care. Its faculty of more than 700 pediatric subspecialists and researchers across more than 40 subspecialties are actively involved in clinical care, pediatric research, and educating the next generation of pediatric subspecialists. For more than a century, Children’s Mercy has provided the highest level of medical care to every child who passes through its doors, made possible through generous community support.
Children’s Mercy Kansas City