Comparison of Genomic Sequencing and Targeted Gene Panels

This research article presents findings from the Genomic Medicine for Ill Neonates and Infants (GEMINI) study, which compares the outcomes of rapid whole-genomic sequencing with a targeted neonatal gene-sequencing test in infants suspected of having a genetic disorder. Conducted across six US hospitals, the study involved 400 hospitalized infants under one year of age. The primary endpoints included molecular diagnostic yield, time to return of results, and clinical utility. Results indicated that genomic sequencing identified a molecular diagnostic variant in 49% of participants, compared to 27% for the targeted test. The median time to return results was longer for genomic sequencing at 6.1 days versus 4.2 days for the targeted test. The study also noted significant differences in variant interpretation between laboratories, which may impact clinical management. The findings suggest that while genomic sequencing offers a higher diagnostic yield, it does so at the cost of longer result turnaround times.