MAGNET: MAKING GENOMICS ACCESSIBLE FOR NEWBORNS IN TEXAS - ABSTRACT The great advances made in genomic medicine that impact diagnoses and care of newborn babies in large academic centers in Texas are generally not available at most level III and level IV NICUs across the state. Major populations in El Paso, the Rio Grande Valley, and northwestern and central Texas lack local access to medical genetic expertise, capacity for genomic testing, and frontline practitioners with the knowledge to leverage personal genomic data to improve care. Residents in some of these regions must travel over 300 miles to reach the nearest in-state geneticist. Only twenty years ago, less than three percent of genetic conditions in newborns could be molecularly diagnosed. Today, with routine genomic tests at academic medical centers, over one third of these cases are diagnosed. Unfortunately, many babies born in regions far from academic medical centers lack access to genetic evaluation and testing, remain undiagnosed, and are unable to benefit from early personalized medical treatment. Here, we propose to dramatically improve the diagnosis, especially of rare diseases, in the sickest newborns in hospitals across under-resourced regions of Texas using a new generation of clinical assays (whole genome and RNA sequencing), leveraging a lower-cost sequencing technology and Consultagene, our established remote consultation service and platform. This combined approach (MAGNET) will improve access to care, help bridge gaps in health outcomes, increase the scale and quality of the genomic data generated, and advance personalized care. Moreover, we propose to make these diagnostic strategies available through a telehealth-based approach expanding access to medical genetics expertise while improving patient and provider engagement and education, at both academic and community neonatal intensive care units across Texas. This strategy will greatly democratize genome technology, enhancing access in geographically remote, poor, or under-resourced communities, and reaching a much larger proportion of hospitalized newborns. As such, our work will serve as a model for increasing genetic diagnoses among many communities in NICUs across the United States.
