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BioCommunique Article

Dr. Stephen Kingsmore sits down with us to discuss the standard of care delivered by Rady Children’s Hospital using ultra-rapid whole genome sequencing.

Biocom Celebrates DNA Day 2020 By Recognizing Dr. Stephen Kingsmore, President & CEO of Rady Children’s Institute for Genomic Medicine

  • 2020-04-25T18:20:00.000+0000
  • California
  • Author: Lauren Panetta

DNA Day commemorates the successful completion of the Human Genome Project in 2003 and the discovery of DNA's double helix in 1953. The National Human Genome Research Institute (NHGRI) began celebrating DNA Day annually on April 25th after the 108th Congress passed concurrent resolutions designating it as DNA Day. This year, Biocom is recognizing the pioneering work of Rady Children’s Institute for Genomic Medicine and Dr. Stephen Kingsmore, MD, DSc, the institute's President & CEO.

In 2016, Dr. Kingsmore broke the Guinness World Record for fastest genetic diagnosis when he successfully diagnosed critically ill newborns in a mere 26 hours. Time-shrinking technologies, including the DRAGEN genomic data-crunching computer chip and one of Illumina's high-throughput sequencing instruments were used to accomplish this incredible feat. 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. This makes it vital for physicians to use technology that allows for early diagnosis so that babies can be given the precise method of care and treatment.

As technology in the life sciences evolves at a staggering pace, Dr. Kingsmore continues to search for groundbreaking ways to rapidly decode DNA and speed the time to diagnose patients and improve their outcomes. We caught up with him to learn how Rady Children’s Hospital is harnessing the power of genomics to provide the best possible care for children and their families.

Biocom: Genome sequencing has come a long way since Frederick Sanger sequenced the first full genome in 1977. Tell us about the technology Rady Children’s Hospital is currently using to diagnose and treat children with genetic disease.

Dr. Stephen Kingsmore: We are using ultra-rapid whole genome sequencing to identify the cause of genetic disease in critically ill newborns and children hospitalized in intensive care units. The Institute is embedded at Rady Children’s Hospital—San Diego and we serve some 40 hospitals and clinical partners around the nation. To date, we have decoded the genomes of more than 1,500 children. One third of the children we sequence are diagnosed with a genetic disease. Almost 40% of those sequenced have changes in their treatment as a result. Through our research, we have demonstrated that using rWGS as a first-tier diagnostic in neonatal and pediatric intensive care improves patient outcomes and reduces healthcare costs. Over the next three years, we hope to complete sequencing the genomes of 10,000 critically ill children.

Biocom: National DNA Day commemorates the successful completion of the Human Genome Project in 2003 and the discovery of the DNA’s double helix in 1953. How have these major milestones in the field of genomics influenced today’s sequencing technology?

Dr. Stephen Kingsmore: The Human Genome Project ushered in the era of Rapid Precision Medicine. Since 2011, we have focused on optimizing the speed and accuracy of rapid whole genome sequencing to help gravely ill newborns in urgent need of a diagnosis. We have achieved two world speed records for fastest time to diagnosis for critically ill children with genetic diseases. Our current record is 19 hours from sample to genome-based diagnosis. Minutes matter when a newborn is admitted to intensive care with an unexplained, potentially life-threatening medical condition. Receiving a precise molecular diagnosis can make the difference between improved outcomes and a lifetime of disability or even life itself for these patients. Our goal is to expand access to rWGS and make it the standard of care, rather than test of last resort, for critically ill children with undiagnosed conditions in intensive care.

Biocom: When you consider the future of genomics and what discoveries could be made in the next five to ten years, what most excites you?

Dr. Stephen Kingsmore: Whole Genome Sequencing is already the gold standard when it comes to diagnosing genetic disease and guiding medical intervention. In the next five years, we anticipate genome sequencing will become a routine part of pediatric specialty care. In ten years, genome sequence information will be a routine part of the healthcare of every child, starting at birth. Over the course of the next decade, genome information will increasingly be used to shape a lifetime of personalized strategies for disease prevention, detection and treatment. Technology is getting better and better from instrumentation to integration of artificial intelligence. At the same time, power of a genome test is also rapidly improving. It’s a profound joy to offer families fast answers and improve the patient care experience through the power of Rapid Precision Medicine.