Genomic Medicine: the Hype, the Hope, the Reality

Ever wonder what a clinical and molecular geneticist actually does? What are some of the biggest misconceptions people have about precision medicine and genomics?​ Find out in this SGH Hospital of the Future podcast, as Associate Professor Goh Su-Yen and Associate Professor Tan Ee Shien hear from Professor Wendy Chung, Chief of Pediatrics, Boston Children's Hospital, and Mary Ellen Avery Professor of Pediatrics, Harvard Medical School, as well as how Professor Chung helped identify genes linked to rare neurodevelopmental disorders, and impact children’s lives through her work on spinal muscular atrophy and Duchenne muscular dystrophy and newborn genome screening. We learn from Ministry of Health (MOH) Health Manpower Development Programme visiting expert Professor Chung as she shares her hope for the future of paediatric genomics, what the ideal integration of genomics into paediatric care looks like to her, and which fields she works in — autism, cardiomyopathy, obesity, rare neurogenetic conditions — might be on the cusp of the biggest breakthrough. Professor Wendy Chung is a physician scientist and directs National Institutes of Health (NIH) funded research programs in human genetics of birth defects including congenital diaphragmatic hernia, esophageal atresia, and congenital heart disease. She leads a large study of autism called SPARK and a study of 180 rare neurogenetic conditions called Simons Searchlight. She has led studies to improve newborn screening for spinal muscular atrophy, Duchenne muscular dystrophy, and now GUARDIAN (Genomic Uniform screening Against Rare Diseases In All Newborns). About SGH Hospital of the Future Podcast Hosts Associate Professor Goh Su-Yen is Senior Consultant, Endocrinology at Singapore General Hospital (SGH), Head and Senior Consultant, SingHealth Duke-NUS Diabetes Centre, and Group Director, Innovation and Transformation, SingHealth, with an interest in innovation and transformation. Associate Professor Tan Ee Shien is Head, Clinical Services, SingHealth Duke-NUS Genomic Medicine Centre, and Head, Genetics Service, KK Women's and Children's Hospital where she leads efforts to improve the care of patients with genetic diseases. She was Director of the National Newborn Screening Programme in Singapore from 2011 to 2023. In this role, she led the expansion of the list of disorders tested in newborns. The programme has been successful in ensuring that majority of the newborns in Singapore are tested. Professor Tan is a strong believer in mentoring the next generation and is actively involved in education, previously serving as the Paediatric clerkship director for the Duke NUS Graduate Medical School. She is also a Clinical Associate Professor in Duke-NUS Medical School and Yong Loo Lin School of Medicine. She was awarded Clinician Scientist Award 2009 to 2011 and remains involved in numerous genetics research projects. SGH Hospital of the Future Podcast is also available on: Spotify: https://for.sg/sghhospitalofthefuturespotifymainpageyoutube Apple Podcasts: https://podcasts.apple.com/us/podcast/sgh-hospital-of-the-future/id1817347118 Find out more about the podcast series at https://www.sgh.com.sg/about-sgh/news/hospital-of-the-future.newsdetails #SingaporeGeneralHospital website: www.sgh.com.sg #SGH #SGHHospitalOfTheFuture #podcast #healthcare #innovation #healthcareinnovation #hospitalinnovation #DareToInnovate #GenomicMedicine #PrecisionMedicine #genomics #moleculargenetics #pediatrics #genomescreening