Rapid Genome-wide Testing: A Review of Clinical Utility, Cost-Effectiveness, and Guidelines

Key Message

Two relevant clinical studies, including one randomized controlled trial and one non-randomized study, were identified regarding the clinical utility of providing rapid turnaround for genome-wide testing for patients in intensive care.Evidence of limited quality demonstrated that genome-wide tests with a rapid turnaround time significantly decreased the time to diagnosis for infants in intensive care compared to standard genetics tests with a routine turnaround time. There were mixed results regarding how rapid tests may have ultimately affected medical management. One study reported no significant differences in the rates of change in medical management following the interpretation of the results from a rapid genetic test plus standard tests versus standard genetic tests alone. The second study observed a significantly higher number of cases with changes to medical management following a test result in a cohort that received a rapid test versus cohorts that received genetic tests with a standard turnaround time. Neither of the included studies noted significant differences in rates of mortality between infants who received rapid genome-wide testing or those who received genome-wide testing with routine turnaround time.No evidence regarding the cost-effectiveness of providing rapid turnaround for genome-wide testing for patients in intensive care was identified. Additionally, no relevant evidence-based guidelines were identified. The limitations of the included studies (e.g., their open-label nature, lack of reporting on patients lost to follow-up) should be considered when interpreting the findings of this report.