The Impact of Delayed Diagnosis in Rare Disease (EveryLife Foundation)
Making a rare disease diagnosis can require more than 6 years after symptoms begin and 17 medical interventions, on average, including emergency room visits and out-of-state specialist appointments.

Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions (Genetics in Medicine)
Genomic sequencing can be the most cost-effective strategy for diagnosing infants with suspected genetic conditions.

The Cost of Delayed Diagnosis in Rare Disease: A Health Economic Study (EveryLife Foundation)
On average, rare disease patients spend more than 6 years searching for a diagnosis. Avoidable costs attributable to delayed diagnosis is between $86,000 and $517,000 per patient cumulatively for the years of delay.

Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG) (Genetics in Medicine)
Exome and genome sequencing can bolster active and long-term clinical management of patients with congenital anomalies or intellectual disability.

Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability (Genetics in Medicine)
Exome and genome sequencing can bolster active and long-term clinical management of patients with congenital anomalies or intellectual disability.

Real-world diagnostic outcomes and cost-effectiveness of genome-wide sequencing for developmental and seizure disorders: Evidence from Canada (Genetics in Medicine) Access to exome sequencing may yield more rapid genetic diagnosis of childhood development and seizure disorders and cost savings.

Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability (Genetics in Medicine)
Exome and genome sequencing for patients with congenital anomalies or intellectual disability informs clinical and reproductive decision-making.

Real-world diagnostic outcomes and cost-effectiveness of genome-wide sequencing for developmental and seizure disorders: Evidence from Canada (Genetics in Medicine)
Access to exome sequencing may yield more rapid genetic diagnosis of childhood development and
seizure disorders and cost savings. 

Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review (npj Genomic Medicine)
Genome and exome sequencing should be considered in all children with diseases of uncertain etiology
at ICU admission.

Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU (Pediatric Critical Care Medicine)
This study provides evidence for the clinical utility of rapid whole genome sequencing for critically ill
children in the PICU.