犹他州NeoSeq项目：一个多学科合作项目，以促进新生儿重症监护病房的基因组诊断。

IF 4.7 2区医学 Q1 GENETICS & HEREDITY

NPJ Genomic Medicine Pub Date : 2025-03-23 DOI:10.1038/s41525-025-00483-7

Sabrina Malone Jenkins, Rachel N Palmquist, Barry Moore, Steven E Boyden, Thomas J Nicholas, Pinar Bayrak-Toydemir, Rong Mao, J Andrew R Farrell, Carson H Holt, Shawn G Rynearson, Chelsea M Solorzano, Alistair Ward, D Hunter Best, Najla Al-Sweel, Dawn L Bentley, Luca Brunelli, Clement Y Chow, Devin W Close, Michael J Cormier, Malia J Deshotel, Jacob Durtschi, Erik J Eide, Luaiva Floyd, Eric K Fredrickson, Makenzie L Fulmer, Edgar J Hernandez, Ashley L Kapron, Mary Anne Karren, Robert G Lewis, Christine E Miller, L Charles Murtaugh, Kelsey E Nicholson, Katherine Noble, Brendan D O'Fallon, John M O'Shea, David C Pattison, Brent S Pedersen, Brandy J Petersen, Bennet D Peterson, Lucilla Pizzo, Hayley M Reynolds, Paul Rindler, Carrie B Torr, Ting Wen, H Joseph Yost, Jian Zhao, Mark Yandell, Gabor T Marth, Aaron R Quinlan, John C Carey, Brian J Shayota, Martin Tristani-Firouzi, Joshua L Bonkowsky

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引用次数: 0

摘要

新生儿重症监护病房的快速基因组诊断代表了医学范式的转变，越来越多的证据表明早期诊断的效用，影响管理。犹他州NeoSeq项目的目标是实施和评估一个多学科和纵向快速测序项目，同时过渡到clia认证的测序。纳入的65名婴儿中，26名（40%）患有诊断变异，7名（11%）具有强候选。这包括重新分析导致4个额外的诊断。家长调查显示，7%（4/59）的家长在同意后发生了决定冲突，3%（2/59）的家长在结果后感到决定后悔。对52家供应商进行了调查。79%（41/52）的结果和86%（19/22）的诊断结果“非常有用”或“有用”，并与管理变化有关。NeoSeq项目表明，多学科合作的诊断方法是可行的。我们已经开发了一种通用的协作协议，以解决新兴技术快速遗传评估的需求。

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The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unit.

Rapid genomic diagnostics in the Neonatal Intensive Care Unit represents a paradigm shift in medicine with increasing evidence of the utility of early diagnosis, impacting management. The goal of the Utah NeoSeq Project was to implement and evaluate a multidisciplinary and longitudinal rapid sequencing program while transitioning to CLIA-certified sequencing. Enrollment of 65 infants resulted in 26 (40%) with a diagnostic variant(s) and 7 (11%) harboring a strong candidate. This includes re-analyses resulting in four additional diagnoses. Parental surveys indicated that 7% (4/59) of parents had a decisional conflict after consent, and 3% (2/59) experienced decisional regret after the results. Fifty-two provider surveys were conducted. Seventy-nine percent (41/52) of results and 86% (19/22) of diagnostic results were "very useful" or "useful" and associated with management changes. The NeoSeq Project demonstrates that a multidisciplinary collaborative approach to diagnosis is feasible. We have developed a generalizable, collaborative protocol that addresses the need for expedited genetic evaluation with emerging technologies.

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来源期刊

NPJ Genomic Medicine Biochemistry, Genetics and Molecular Biology-Molecular Biology

CiteScore

9.40

自引率

1.90%

发文量

审稿时长

17 weeks

期刊介绍： npj Genomic Medicine is an international, peer-reviewed journal dedicated to publishing the most important scientific advances in all aspects of genomics and its application in the practice of medicine. The journal defines genomic medicine as "diagnosis, prognosis, prevention and/or treatment of disease and disorders of the mind and body, using approaches informed or enabled by knowledge of the genome and the molecules it encodes." Relevant and high-impact papers that encompass studies of individuals, families, or populations are considered for publication. An emphasis will include coupling detailed phenotype and genome sequencing information, both enabled by new technologies and informatics, to delineate the underlying aetiology of disease. Clinical recommendations and/or guidelines of how that data should be used in the clinical management of those patients in the study, and others, are also encouraged.