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There's a quiet revolution happening in the field of genetic screening of newborns. Within the last couple of years it’s become possible to sequence the entire genome of a newborn baby, all six billion base pairs of DNA, and diagnose potential genetic disorders in about 7 hours. That’s already happening in a handful of hospitals, with a focus on babies who are showing symptoms of rare genetic disorders. But within five years, says Harry's guest, Dr. Stephen Kingsmore, it should be possible to extend this rapid whole-genome sequencing to every baby in every hospital, whether they’re showing symptoms or not.

Kingsmore earned his medical degrees in Northern Ireland, trained in internal medicine and rheumatology at Duke, and studied genomic medicine at Children’s Mercy Hospital in Kansas City. And he’s now the president and CEO of the Institute for Genomic Medicine at Rady Children’s Hospital in San Diego. There, he’s been leading an aggressive push to prove that rapid whole-genome sequencing and diagnosis can not only save the lives of newborns, but save the healthcare system a lot of money by making hospital stays shorter and therapies more directed. He’s been able to use that argument to get Medicaid agencies in California and five other states, as well as a handful of private insurance companies, to cover whole-genome sequencing as the new standard of care for babies who end up in intensive care with unexplained illnesses. And if his newest project, BeginNGS, succeeds, it could lead to universal screening of all newborns for hundreds or even thousands of rare genetic disorders. 

For a full transcript of this episode, please visit our episode page at http://www.glorikian.com/podcast 

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