Dr. Chanika Phornphutkul, MD, FACMG, is the director of the Division of Human Genetics, Department of Pediatrics at the Warren Alpert Medical School of Brown University in Providence, Rhode Island. She has practiced genetics and metabolism for the past 20 years. Dr. Phornphutkul has been involved with identifying rare disorders, treatments, clinical trials and supporting families with genetic conditions. She teaches 1st year genetic course at the medical school. Dr. Phornphutkul is the current chair and a long time member of the Newborn Screening Advisory Committee to Rhode Island Department of Health (RIDOH) as well as the recipient of the RI Newborn Screening Award from RIDOH. She has spearhead the implementation of expansion of newborn screening in Rhode Island and most recently supported the implementation of screening for MPS/Pompe/X-ALD. In her position at the only pediatric academic center in RI, she has worked closely with both RIDOH and pediatric specialists to ensure access to care for patients with abnormal newborn screening results including short- and long-term follow-up. Along with her colleagues, Dr. Phornphutkul, developed communication protocols between primary care and specialists including an initiative to increase awareness of the American College of Medical Genetics and Genomics ACT sheets to direct communication. Dr. Phornphutkul reviews articles for journals on a regular basis. She is also passionate about the bioethics of genetic medicine.