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<p>Critically ill pediatric patients often have genetic disorders requiring a rapid diagnosis to guide urgent care decisions. Standard genetic testing typically takes weeks and requires multiple tests. Nanopore long-read genome sequencing (LR-GS) delivers genome-wide results within days as a one-test-fits-all solution. As one of the first centers in Europe, we implement ultrarapid LR-GS for critically ill patients. We enrolled 26 critically ill patients (median age 2 months) suspected of having a genetic disorder at the intensive care unit to perform (ultra)rapid nanopore LR-GS alongside standard genomic care. We compared diagnostic yield, turnaround time (TAT), and evaluated the impact on clinical decision making. In 11/26 cases a genetic diagnosis was made with (ultra)rapid LR-GS. From sample receipt to result, the average TAT was 5.3 days (range 2.0–10.8) for LR-GS and 18.4 days (range 6.1–29.1) for standard genomic care. DNA methylation analysis from LR-GS expedited the diagnosis in 3/26 cases. In 7/11 solved cases ultrarapid LR-GS led to immediate adjustments in patient care, e.g., medication switch or termination of treatment. Our findings underscore the clinical impact of ultrarapid LR-GS, including added value of methylation analysis, for critically ill patients and highlight existing challenges, paving the way to ultrarapid LR-GS integration into standard diagnostics.</p>

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Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年10月20日

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  • Daphne J. Smits,
  • Federico Ferraro,
  • Mark Drost,
  • Herma C. van der Linde,
  • Bianca M. de Graaf,
  • Yolande van Bever,
  • Alice S. Brooks,
  • Livija Bardina,
  • Hennie T. Brüggenwirth,
  • Christophe Debuy,
  • Laura Donker Kaat,
  • Bastiaan T. van Dijk,
  • Nienke van Engelen,
  • Geert Geeven,
  • Raoul van de Graaf,
  • Désirée Y. van Haaften-Visser,
  • Peter M. van Hasselt,
  • Daphne Heijsman,
  • Yvonne M. C. Hendriks,
  • Rebekkah J. Hitti-Malin,
  • Lies H. Hoefsloot,
  • Glenn Huijbregts,
  • Hanna IJspeert,
  • Sander Lamballais,
  • Jona Mijalkovic,
  • Merel O. Mol,
  • Diënna Nawawi,
  • Nadine Nederpelt,
  • Esther A. R. Nibbeling,
  • Wouter te Rijdt,
  • Rachel Schot,
  • Marjon van Slegtenhorst,
  • Frank Sleutels,
  • Eva L. M. Ulenkate,
  • Monique Van Veghel – Plandsoen,
  • Judith M. A. Verhagen,
  • David Vos,
  • Erwin Wauters,
  • Martina Wilke,
  • Marc Sylva,
  • Tahsin Stefan Barakat,
  • Tjakko J. van Ham,
  • Tjitske Kleefstra,
  • Dmitrijs Rots,
  • Virginie J. M. Verhoeven

摘要

Critically ill pediatric patients often have genetic disorders requiring a rapid diagnosis to guide urgent care decisions. Standard genetic testing typically takes weeks and requires multiple tests. Nanopore long-read genome sequencing (LR-GS) delivers genome-wide results within days as a one-test-fits-all solution. As one of the first centers in Europe, we implement ultrarapid LR-GS for critically ill patients. We enrolled 26 critically ill patients (median age 2 months) suspected of having a genetic disorder at the intensive care unit to perform (ultra)rapid nanopore LR-GS alongside standard genomic care. We compared diagnostic yield, turnaround time (TAT), and evaluated the impact on clinical decision making. In 11/26 cases a genetic diagnosis was made with (ultra)rapid LR-GS. From sample receipt to result, the average TAT was 5.3 days (range 2.0–10.8) for LR-GS and 18.4 days (range 6.1–29.1) for standard genomic care. DNA methylation analysis from LR-GS expedited the diagnosis in 3/26 cases. In 7/11 solved cases ultrarapid LR-GS led to immediate adjustments in patient care, e.g., medication switch or termination of treatment. Our findings underscore the clinical impact of ultrarapid LR-GS, including added value of methylation analysis, for critically ill patients and highlight existing challenges, paving the way to ultrarapid LR-GS integration into standard diagnostics.