Transforming NICU care: rapid WES and transcriptomics-validation, social impact, and cost analysis

Area of Science:

• Genomics
• Neonatal Medicine
• Clinical Diagnostics

Background:

• Genetic diseases are a major cause of morbidity and mortality in neonatal intensive care units (NICUs).
• Delayed diagnosis of genetic conditions in neonates complicates treatment and impacts outcomes.
• Rapid whole-exome sequencing (rWES) and RNA-seq offer potential for faster and more accurate genetic diagnoses.

Purpose of the Study:

• To evaluate the diagnostic yield and clinical utility of rWES and RNA-seq in neonates with suspected genetic diseases.
• To assess the impact of these genomic techniques on time to diagnosis, healthcare costs, and parental stress.
• To determine the overall effectiveness of integrating rWES and RNA-seq into NICU care.

Main Methods:

• Prospective study involving 34 neonates in NICUs with suspected genetic diseases.
• Initial application of rapid whole-exome sequencing (rWES).
• Subsequent use of RNA-sequencing (RNA-seq) for cases where rWES did not yield a diagnosis.

Main Results:

• rWES achieved a 41% diagnostic rate with a mean turnaround time of 8.57 days.
• RNA-seq increased the diagnostic yield by an additional 6%, reaching a total diagnostic rate of 47%.
• rWES use reduced unnecessary procedures by 15%, shortened hospital stays by 25%, and was cost-effective (ICER < €9000).
• Parental anxiety decreased by 30% with diagnosis but increased by 15% without diagnosis.

Conclusions:

• Implementing rWES in NICUs significantly improves diagnostic accuracy and speed for critically ill neonates.
• RNA-seq further enhances the diagnostic yield, complementing rWES findings.
• These genomic approaches reduce healthcare costs, shorten hospital stays, and positively impact parental well-being.