Study Highlights Benefits of Rapid Exome Sequencing in Neonate Clinical Care

An examination of the use of rapid exome sequencing in neonatal clinical care, appearing this week in npj Genomic Medicine, suggests that the technology can effectively identify disease-causing genetic variants and positively impact clinical care. While genomic sequencing has proven to be a powerful diagnostic tool in critically ill infants in research studies, its application in a clinical setting is less straightforward. To better understand the clinical implementation of genomic sequencing in infant care, a team led by researchers from Boston Children's Hospital investigated the integration of rapid exome sequencing into routine clinical care in the years after a pilot research study in the hospital's neonatal intensive care unit (NICU). They find that, overall, rapid exome sequencing was used in the NICU for patients with suspected genetic disorders after the pilot study — often as a first-tier sequencing test —and could identify the majority of disease-causing variants while shortening the diagnostic process. Clinically integrated rapid exome sequencing had a lower diagnostic yield and longer time to report than research study exome sequencing, highlighting the importance of an optimized workflow, but its diagnostic yield was still relatively high and it identified genetic diagnoses that would have been missed by the research study selection criteria. For clinicians working in the acute and busy NICU environment, rapid exome sequencing "represents a good choice for the majority of infants with suspected genetic disorders as an initial single genetic test … that captures the vast majority of currently known pathogenic genetic variants and shortens the difficult diagnostic odyssey for patients and their families, especially as the cost of genomic sequencing continues to decrease," the scientists write