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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引用次数: 0

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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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.