Clinical OMICS

MAR-APR 2019

Healthcare magazine for research scientists, labs, pathologists, hospitals, cancer centers, physicians and biopharma companies providing news articles, expert interviews and videos about molecular diagnostics in precision medicine

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26 Clinical OMICs March/April 2019 What are the most significant advances in preci- sion medicine over the past five years? Kingsmore: Whole genomic sequencing and whole exome sequencing are eliminating the phenomenon of the diagnostic odyssey for rare genetic disease: It's real- istic today to have a genome or exome test ordered at first subspecialist outpatient visit and to have a diag- nosis by the time of the second visit. This is clearly the most powerful diagnostic tool ever developed for the millions of children with rare diseases. For seriously ill children who are hospitalized in intensive care units, the most significant advance has been ultra-rapid whole genome sequencing. It's rou- tinely possible now to examine nearly every genetic dis- ease and either make a diagnosis or rule out a genetic disease, in 36 hours. That's fast enough to guide weighty management decisions in even the most seriously ill children. Where rapid whole-genome sequencing is absolutely transformative is in seriously ill children in whom a genetic disease was not suspected at test order. Those children were, with the best intentions in the world, being treated for the wrong diagnosis. How has your work supported these advances? Kingsmore: For the last four years, Rady Children's Insti- tute has had a single focus—implementation of ultra- rapid whole genome sequencing at a scale of thousands per year. In February 2018, we set a world speed record –19 hours—for fastest genetic diagnosis. This year, we've started applying implementation science and hospital quality improvement principles to the entire precision medicine experience for infants in intensive care units. Over the past three years we've gone from seeking to meet the needs of a single children's hospital—Rady Children's Hospital-San Diego—to 16 children's hos- pitals across the United States. And we've gone from 100 percent research protocols to routine clinical oper- ations. Most notably, we are running a state-sponsored demonstration program, Project Baby Bear, implement- ing rapid whole genome sequencing in for MediCal-en- rolled infants in intensive care units at five California children's hospitals. The statistics are compelling. In 720 infants in intensive care units tested so far, one in three received a genetic disease diagnosis, and in about another third we are able to exclude genetic disease as the cause of illness. One in four infants has a change in care as a result of rapid whole-genome sequencing. One in five has a change in outcome. What are the biggest challenges and/or opportuni- ties that lie ahead? Kingsmore: One is we've invented a new way of prac- ticing medicine that's not yet taught in medical schools. To bridge the gap, we are creating a multi-tiered learn- ing network to train physicians and nurses—particularly pediatricians in intensive care units—in understanding genomics and how to apply precision medicine. Another obstacle is the lack of insurance coverage for genomic the ability to interpret and understand the molecular differences that exist between individuals in order to deliver tailored medical care for them, is already func- tionally present in some rare disease and cancer set- tings. That is not to say that we have all the knowledge and expertise we need even there; clearly we do not, but we are on the correct path. We are now seeing a push into application in more common and less well under- stood diseases.. (continued from previous page) STEPHEN Kingsmore, M.D. Rady Children's Institute for Genomic Medicine ANNIVERSARY ISSUE

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