Universal genetic testing efficiently diagnoses hospitalized infants and ends racial disparities
Genetic diseases cause many newborns to require intensive care. While targeted testing exists for well-studied genetic conditions, only a screen looking at the entire genome can identify the whole gamut of genetic conditions. In recent years, hospitals have developed novel programs in neonatal intensive care units (NICUs) to efficiently screen newborns for genetic disease only when a doctor suspects illness. However, a new research study from a collaboration between the genetic diagnostics company GeneDx and Seattle Children’s Hospital suggests universal screening is instead the best path.
A set of 240 newborns with unexplainable conditions in the hospital’s NICU were asked to participate in the study. 126 newborns received comprehensive genetic testing while the other 114 received conventional care, that is genetic testing only if ordered by a doctor. In the universal testing group, 49.2% of the infants received a genetic diagnosis versus only 9.7% of the control group, suggesting that the stricter standard criteria missed a lot of infants with genetic diseases. These percentages barely shifted after a year’s follow-up, so whatever might have been missed in the control group was not being found after the infants left the NICU. There was also a racial disparity in the control group; non-white infants who were tested were less likely to receive a diagnosis. This disparity was not present in the universal testing group.
The researchers use their results to point to a fundamental problem in evaluating targeted testing programs: in trying to demonstrate a high rate of diagnosis, they exclude infants for testing based on human judgement. This introduces bias and excludes infants with atypical symptoms. Even though their results point to the high utility of universal genetic testing for newborns in intensive care, the authors point out many NICUs do not have access to genome sequencing or genetic counseling services, and not all insurance plans cover sequencing.
This study was led by Tara Wenger, the Associate Medical Director of Inpatient Genetic Services at Seattle Children’s Hospital and Assistant Professor at the University of Washington, and Michael Bamshad, the Chief of the Division of Genetic Medicine at Seattle Children’s Hospital and Professor of Pediatrics at the University of Washington.
Corresponding Author: Alex Yenkin
Original Article: “SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns“, The American Journal of Human Genetics
Image Credit: “MODULAR NICU WITH HEPAFILTERS“, Wikimedia Commons with CC by-SA 4.0
