Associate Professor of Clinical Pediatrics, Indiana University School of Medicine
I am a neonatologist and clinical researcher focused on the diagnosis, management, and health care economics of perinatal genetic disease. As a clinician in a busy level IV neonatal intensive care unit (NICU), I have been afforded the opportunity to care for many infants with a variety of genetic disorders, and I have experienced first-hand the difficulties in making a rare diagnosis. My experiences as a clinician have provided a great deal of insight into the barriers to translating new scientific innovations directly to patients. I was the principal investigator at Cincinnati Children's Hospital Medical Center (CCHMC) for the GEMINI study (ClinicalTrials.gov Identifier: NCT03890679), which is a multi-center clinical trial comparing the utility of a multi-gene panel to rapid whole genome sequencing (rWGS) in hospitalized infants suspected to have a genetic disorder. I also recently completed a study to evaluate four years of admissions to the CCHMC NICU to determine the prevalence of genetic disease, timing of diagnosis, and the economic impact of a genetic diagnosis on the NICU stay. With this study, I was able to show that 1 in 8 of all admissions had received a genetic diagnosis by 2 years of age, but the diagnosis was made after the neonatal period and even after NICU discharge for many patients, and the cost to care for a patient with a genetic diagnosis was significantly more than those without a diagnosis. I am the director of the Indiana University Center for Perinatal Genomics where I have created a set of evidence based clinical guidelines for determining which NICU patients require genetic evaluations, and which should undergo rWGS. I have implemented a pilot study of those guidelines across all neonatal intensive care units (NICUs) at Riley Hospital for Children.