#226 NICU Whole Genome Sequencing with Hong Li and Madhuri Hegde

Can rapid whole genome sequencing (WGS) be utilized in the NICU setting? We explore in this podcast episode! Joining us for this episode is Dr. Hong Li, a clinical geneticist at Emory University. Our other expert is a recurring guest, world-renowned geneticist Dr. Madhuri Hegde. She serves as the Senior Vice President and Chief Scientific Officer of Global Lab Services at PerkinElmer Genomics, a global leader in genetic and genomic testing focused on rare diseases, inherited disorders, newborn screening, and hereditary cancer.If you want to hear her on other episodes of DNA Today tune into Episode 177 where we nerded out about the power of whole genome sequencing (which is a great precursor to this conversation) and Episode 202 about Duchenne Muscular Dystrophy.In addition to her role at PerkinElmer, Dr. Hegde is also a board certified diplomate in clinical molecular genetics by the American Board of Medical Genetics, and an ACMG Fellow. Previously, she was the Executive Director of Emory Genetics Laboratory. She received a B.Sc. and M.Sc. from the University of Bombay and a Ph.D. from the University of Auckland. She completed postdoctoral studies at Baylor College of Medicine.Dr. Hong Li is a clinical and biochemical geneticist at Emory University School of Medicine who is passionate about diagnosing and treating children and families with genetic and metabolic diseases. She also oversees the Emory Metabolic Clinic, serves as Co-Chair of the Georgia Newborn Screening Advisory Committee (NBSAC), where she is extensively involved in Georgia’s NBS development, implementation, and clinical follow-up for children with metabolic disorders, is the Vice-Chief of the genetics section at Children’s Healthcare of Atlanta and geneticist of the multidisciplinary differences of sex development (DSD) clinic at CHOA and the site PI of the DSD translational research network (DSD-TRN). She also serves as the medical director of the Emory CTCF-related disorder (CRD) center.Dr. Li also holds multiple educational roles, including sponsoring the first Emory Genetics Interest Group at Emory College and School of Medicine to foster interest and attract intelligent students to join the growing field of medical genetics! Her research interests are primarily devoted to exciting clinical trials for genetic/metabolic diseases, and she is the principal investigator for multiple Phase I/II and III clinical trials. She is also interested in new gene discovery and better defining the phenotype of rare genetic diseases.On This Episode We Discuss:Symptoms that would warrant immediate genetic testing after birthStarting with whole genome sequencing (WGS) versus exomeOther tests that are useful for babies in the NICU beyond the genomeHow laboratories are maximizing the genome data for babies in a medical crisisSamples used for urWGS (ultra rapid WGS) and newborn screeningTrio testing with parents to rule out variants of being causative of symptomsurWGS minimizing healthcare costsWhy timing is so important for babies in the NICUHow results from urWGS can influence treatment plansHow projects like Project Baby Bear and Project Baby Deer are paving the way for whole exome sequencing as part of newborn screening Here is an interesting article from PerkinElmer about expanding into ultrarapid whole genome sequencing. During the interview Kira mentioned two episodes about the Telomere to Telomere Consortium which officially finished the complete human genome sequence in 2022. Dr. Eric Green shares his expertise in Episode 183 followed by Dr. Miga and Dr. Phillippy in Episode 184. Stay tuned for the next new episode of DNA Today on Friday, March 17th when muscular dystrophy experts Dr. Louise Rodino-Klapac (from Sarepta) and Livija Medne (Children's Hospital of Philadelphia aka CHOP) share their expertise specifically about limb-girdle muscular dystrophy. New episodes are released every Friday. In the meantime, you can binge over 225 other episodes on Apple