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<p>Genetic diseases significantly contribute to morbidity and mortality in neonatal intensive care units (NICUs), with diagnoses often delayed due to clinical complexity. Rapid whole-exome sequencing (rWES) and transcriptomic analysis (RNA-seq) may improve diagnostic rates and clinical outcomes. Prospective study of neonates admitted to NICUs with suspected genetic diseases (<i>n</i> = 34) who underwent rWES, followed by RNA-seq applied in cases in which rWES failed to establish diagnosis. The primary outcome was the diagnostic rate. Secondary outcomes included time to diagnosis, clinical utility, parental stress, and cost-effectiveness. rWES achieved a 41% diagnostic rate with a mean turnaround time of 8.57 ± 2.62&#xa0;days. RNA-seq increased the diagnostic yield by 6%, resulting in a total diagnostic rate of 47%. The use of rWES reduced unnecessary procedures by 15% and shortened hospital stays by 25% (<i>p</i> &lt; 0.01). Cost-effectiveness analysis indicated that rWES was economically advantageous, with an ICER of &lt; €9000. Relative to pre-diagnosis levels, parental anxiety decreased by 30% in cases in which diagnosis was achieved but increased by 15% in cases in which no diagnosis was established (<i>p</i> &lt; 0.05).</p><p><i>Conclusion</i>: Implementing rWES in NICUs improves care for critically ill neonates by providing timely, accurate diagnosis, reducing healthcare costs, and alleviating parental anxiety. RNA-seq further enhances diagnostic accuracy.</p> Graphical Abstract <p></p>

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

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年6月27日

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  • Beatriz Martín López-Pardo,
  • Sofía Barbosa-Gouveia,
  • María-Eugenia Vázquez-Mosquera,
  • Francisco Reyes,
  • Claudia Falcão Reis,
  • Francisco Laranjeira,
  • Tomas Sánchez-Tamayo,
  • Paula Sánchez-Pintos,
  • Cristina Durán Fernández-Feijoo,
  • Alejandro Pérez-Muñuzuri,
  • María-Luz Couce

摘要

Genetic diseases significantly contribute to morbidity and mortality in neonatal intensive care units (NICUs), with diagnoses often delayed due to clinical complexity. Rapid whole-exome sequencing (rWES) and transcriptomic analysis (RNA-seq) may improve diagnostic rates and clinical outcomes. Prospective study of neonates admitted to NICUs with suspected genetic diseases (n = 34) who underwent rWES, followed by RNA-seq applied in cases in which rWES failed to establish diagnosis. The primary outcome was the diagnostic rate. Secondary outcomes included time to diagnosis, clinical utility, parental stress, and cost-effectiveness. rWES achieved a 41% diagnostic rate with a mean turnaround time of 8.57 ± 2.62 days. RNA-seq increased the diagnostic yield by 6%, resulting in a total diagnostic rate of 47%. The use of rWES reduced unnecessary procedures by 15% and shortened hospital stays by 25% (p < 0.01). Cost-effectiveness analysis indicated that rWES was economically advantageous, with an ICER of < €9000. Relative to pre-diagnosis levels, parental anxiety decreased by 30% in cases in which diagnosis was achieved but increased by 15% in cases in which no diagnosis was established (p < 0.05).

Conclusion: Implementing rWES in NICUs improves care for critically ill neonates by providing timely, accurate diagnosis, reducing healthcare costs, and alleviating parental anxiety. RNA-seq further enhances diagnostic accuracy.

Graphical Abstract