Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes.

IF 4.7 2区医学 Q1 GENETICS & HEREDITY

NPJ Genomic Medicine Pub Date : 2024-12-02 DOI:10.1038/s41525-024-00441-9

Courtney E French, Nancy C Andrews, Alan H Beggs, Philip M Boone, Catherine A Brownstein, Maya Chopra, Janet Chou, Wendy K Chung, Alissa M D'Gama, Ryan N Doan, Darius Ebrahimi-Fakhari, Richard D Goldstein, Mira Irons, Christina Jacobsen, Margaret Kenna, Ted Lee, Jill A Madden, Amar J Majmundar, Nina Mann, Sarah U Morton, Annapurna Poduri, Adrienne G Randolph, Amy E Roberts, Stephanie Roberts, Matthew G Sampson, Diane D Shao, Wanqing Shao, Aditi Sharma, Eliot Shearer, Akiko Shimamura, Scott B Snapper, Siddharth Srivastava, Jay R Thiagarajah, Mary C Whitman, Monica H Wojcik, Shira Rockowitz, Piotr Sliz

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Abstract

Boston Children's Hospital has established a genomic sequencing and analysis research initiative to improve clinical care for pediatric rare disease patients. Through the Children's Rare Disease Collaborative (CRDC), the hospital offers CLIA-grade exome and genome sequencing, along with other sequencing types, to patients enrolled in specialized rare disease research studies. The data, consented for broad research use, are harmonized and analyzed with CRDC-supported variant interpretation tools. Since its launch, 66 investigators representing 26 divisions and 45 phenotype-based cohorts have joined the CRDC. These studies enrolled 4653 families, with 35% of analyzed cases having a finding either confirmed or under further investigation. This accessible and harmonized genomics platform also supports additional institutional data collections, research and clinical, and now encompasses 13,800+ patients and their families. This has fostered new research projects and collaborations, increased genetic diagnoses and accelerated innovative research via integration of genomics research with clinical care.

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全院范围内的基因组数据访问促进了儿科罕见病研究和临床结果。

波士顿儿童医院建立了一项基因组测序和分析研究计划，以改善儿科罕见病患者的临床护理。通过儿童罕见病合作组织（CRDC），该医院为参加罕见病专业研究的患者提供clia级外显子组和基因组测序以及其他类型的测序。同意广泛研究使用的数据与crdc支持的变体解释工具进行协调和分析。自启动以来，代表26个部门和45个基于表型的队列的66名研究人员加入了CRDC。这些研究纳入了4653个家庭，其中35%的分析病例得到证实或正在进一步调查。这个可访问和协调的基因组学平台还支持其他机构数据收集、研究和临床，目前涵盖13800多名患者及其家属。这促进了新的研究项目和合作，增加了基因诊断，并通过基因组学研究与临床护理的整合加速了创新研究。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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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.