The genetic basis of neonatal disease
Thomas Hays, MD, PhD
BACKGROUND: Preterm infants suffer a great burden of death and severe illness, the causes of which are not fully known. Genetic disorders likely contribute to this burden, but this has not been investigated in a prospective, systematic manner. GAP: The contribution of genetic disorders to death and severe illness in preterm infants is unknown. HYPOTHESIS: Preterm infants have a disproportionate burden of genetic disorders, and affected infants will have novel, unappreciated manifestations. Infants with genetic disorders will be more likely to die or experience severe illness. METHODS: Preterm infants born weighing less than 1500 g will be recruited for genome-wide sequencing, and the detection of genetic disorders. Logistic regression will be performed to detect associations between genetic disorders and death or severe illnesses, controlling for known risk factors such as birth weight, gestational age, major malformations, sex, and maternal and environmental factors. RESULTS: Pending IMPACT: The results of this study, whether positive or negative, will provide crucial insight into the prevalence of genetic disorders in preterm infants, and how these disorders lead to death and illness, and will thus immediately allow neonatologist to prioritize who should get costly genetic testing. The results will also provide crucial risk prognostication to families and care providers, and help teams anticipate and prevent severe illness in preterm infants. If you wish to learn more about this project, or about precision newborn medicine, please email Thomas Hays, MD, PhD at firstname.lastname@example.org.