Date：27 July (Thursday)
Chief, Department of Pediatrics
Boston Children’s Hospital/Harvard Medical School
Wendy Chung, M.D., Ph.D. is a clinical and molecular geneticist and the Chief of the Department of Pediatrics at Boston Children’s Hospital and Harvard Medical School. Dr. Chung directs NIH funded research programs in human genetics of pulmonary hypertension, breast cancer, obesity, diabetes, autism, birth defects including congenital diaphragmatic hernia and congenital heart disease. She is a national leader in the ethical, legal, and social implications of genomics. She was the recipient of the Rare Impact Award from the National Organization of Rare Disorders, and is a member of the National Academy of Medicine and the American Academy of Physicians. Dr. Chung received her B.A. in biochemistry from Cornell University, her M.D. from Cornell University Medical College, and her Ph.D. from The Rockefeller University in genetics.
Newborn screening (NBS) is a public health program with infrastructure to screen for diseases based on the current Recommended Universal Screening Panel (RUSP). A nomination system is in place to add conditions to the RUSP when there is sufficient evidence that newborn screening for the condition meets technical standards, is accepted by parents and has available effective treatment in children. The current method used for most NBS conditions is tandem mass spectrometry, but molecular methods are used for some conditions including severe combined immunodeficiency (SCID), spinal muscular atrophy (SMA) and cystic fibrosis (CF). Sequencing-based genomic NBS can significantly expand NBS to numerous rare genetic diseases with a single common platform and provide synergies with traditional newborn screening and across conditions to decrease the cost/condition for screening and de-risk the investment across diseases/companies providing/developing treatments for rare genetic diseases. Pilot studies of genomic NBS will improve timely access to therapies through identification of infants in an equitable manner.