Genetic Disease Underrecognized Cause of Infant Death, Study Finds

Treatable genetic diseases are responsible for a greater number of newborn deaths than currently recognized, suggesting that increased use of rapid diagnostic whole-genome sequencing in this population could help lower infant mortality rates, according to a study in JAMA Network Open this week. Infant mortality in the US remains high, occurring in about one in every 200 live births, and the association of single-locus genetic diseases with neonatal deaths remains poorly understood. A team led by Rady Children's Hospital investigators conducted a retrospective cohort study of 546 infants who underwent diagnostic WGS. Of this total, 112 died and 434 had acute illness but survived. Among the newborns who died, single-locus genetic diseases — including many treatable ones — were the most common identifiable cause of mortality, occurring in 46 of the infants. Notably, an underlying genetic etiology was not recorded in approximately two-thirds of death certificates of infants with genetic diseases. The findings, the study's authors write, highlight the potential benefits of strategies to increase neonatal diagnosis of genetic diseases and immediately implement treatment.