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Dr. Stephen Kingsmore on Scaling Whole-Genome Sequencing for Uncovering Genetic Defects in Infants

03/29/22

In episode 55 of the Precision Medicine Podcast, we welcome Dr. Stephen Kingsmore, President and CEO of the Rady Children's Institute for Genomic Medicine. Dr. Kingsmore joins us to discuss the extraordinary role whole-genome sequencing is playing in prolonging and improving the life of critically ill newborns.

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Dr. Kingsmore and his colleagues at Rady Children’s Institute created the life-changing program known as Project Baby Bear, a unique initiative funded by the state of California that makes rapid whole-genome sequencing in critically ill infants a routine practice. Michigan went on to replicate the program through Project Baby Deer—the deer being the state animal of Michigan—which took the program a step farther by funding it through Medicaid.

 

Through these programs, doctors have been able to identify genetic disorders earlier and more consistently, preventing what otherwise might have been years or even lifetimes of endless diagnostics and suffering for critically ill babies and their families.

Our discussion with Dr. Kingsmore centered around this extraordinary initiative and how genomic sequencing is making it possible. He noted during our discussion that 20 years ago, genetic defects were considered complex and difficult to treat, but with genomic sequencing we now know that some of these genetic disorders are much simpler than previously thought, and some can be resolved with something as simple as vitamin therapy.

 

We quickly moved to discussing payers, and the vital role they can play in making genomic sequencing the standard of care for critically ill infants. Dr. Kingsmore points to Senator Susan Collins' initiative Ending the Diagnostic Odyssey Act, which would give states the option of providing federal matching funds for whole genome sequencing for Medicaid-eligible children suspected of having a genetic disease.

 

Dr. Kingsmore explains the importance of finding allies to move initiatives like these forward while exploring what more can be done to help create positive momentum in this area.

 

It was a fascinating conversation with a brilliant doctor who is also full of heart. We encourage everyone to listen to our full conversation to learn more about how genomic sequencing is changing healthcare as we know it.

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Download the full transcript of the episode here (pdf).

 

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About Our Guest

Stephen Kingsmore, MD, DsC

President and CEO of Rady Children's Institute for Genomic Medicine


Stephen F. Kingsmore, MD, DSc, is President and CEO of Rady Children's Institute for Genomic Medicine (RCIGM) where he leads a multi-disciplinary team of scientists, physicians, genetic counselors, software engineers and bioinformaticians who are pioneering the use of rapid Whole Genome Sequencing (rWGS®) to enable precise diagnoses for critically ill newborns. In 2021, he led the RCIGM team to set a new record of 13.5 hours for achieving the fastest molecular diagnosis using rWGS, breaking his previous 2018 world record of 19.5 hours.

 

Dr. Kingsmore came to Rady Children’s in 2015 from Children’s Mercy Kansas City, where he was the Director for the Center for Pediatric Genomic Medicine and Executive Director of Medical Panomic, as well as the Dee Lyons/Missouri Endowed Chair in Genomic Medicine at the University of Missouri-Kansas City School of Medicine. He previously served as President and CEO of the National Center for Genome Resources; Chief Operating Officer of Molecular Staging Inc.; Vice President of Research at CuraGen Corporation; Founder of GatorGen; and Assistant Professor at the University of Florida’s School of Medicine.

 

Dr. Kingsmore is board-certified in Internal Medicine and is a Fellow of the Royal College of Pathologists. He received his MB, ChB, BAO and DSc degrees from the Queen’s University in Belfast, Ireland. He trained in clinical immunology in Northern Ireland and did his residency in Internal Medicine and fellowship at Duke University Medical Center in North Carolina. In 2012, Dr. Kingsmore was named MedScape Physician of the Year and TIME magazine ranked his first record-breaking time of 50 hours for genome sequencing among the top ten medical breakthroughs for that year. In 2013, he received the Scripps Genomic Medicine Award and the ILCHUN Prize of the Korean Society for Biochemistry and Molecular Biology.

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