French Courtney E, Andrews Nancy C, Beggs Alan H, Boone Philip M, Brownstein Catherine A, Chopra Maya, Chou Janet, Chung Wendy K, D'Gama Alissa M, Doan Ryan N, Ebrahimi-Fakhari Darius, Goldstein Richard D, Irons Mira, Jacobsen Christina, Kenna Margaret, Lee Ted, Madden Jill A, Majmundar Amar J, Mann Nina, Morton Sarah U, Poduri Annapurna, Randolph Adrienne G, Roberts Amy E, Roberts Stephanie, Sampson Matthew G, Shao Diane D, Shao Wanqing, Sharma Aditi, Shearer Eliot, Shimamura Akiko, Snapper Scott B, Srivastava Siddharth, Thiagarajah Jay R, Whitman Mary C, Wojcik Monica H, Rockowitz Shira, Sliz Piotr
Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.
Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
NPJ Genom Med. 2024 Dec 2;9(1):60. doi: 10.1038/s41525-024-00441-9.
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.
波士顿儿童医院设立了一项基因组测序与分析研究计划，以改善对儿科罕见病患者的临床护理。通过儿童罕见病协作组（CRDC），该医院为参加专门罕见病研究的患者提供符合临床实验室改进修正案（CLIA）标准的外显子组和基因组测序以及其他测序类型。这些数据经患者同意可用于广泛的研究，通过CRDC支持的变异解读工具进行整合与分析。自启动以来，代表26个科室和45个基于表型的队列的66名研究人员加入了CRDC。这些研究招募了4653个家庭，其中35%的分析病例有已确认或正在进一步调查的结果。这个易于使用且经过整合的基因组学平台还支持额外的机构数据收集，包括研究和临床数据，目前涵盖了13800多名患者及其家庭。这促进了新的研究项目与合作，增加了基因诊断，并通过将基因组学研究与临床护理相结合加速了创新性研究。
