npj Genomic Medicine (Dec 2024)
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes
- 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
Affiliations
- Courtney E. French
- Children’s Rare Disease Collaborative, Boston Children’s Hospital
- Nancy C. Andrews
- Division of Genetics and Genomics, Boston Children’s Hospital
- Alan H. Beggs
- Children’s Rare Disease Collaborative, Boston Children’s Hospital
- Philip M. Boone
- Children’s Rare Disease Collaborative, Boston Children’s Hospital
- Catherine A. Brownstein
- Children’s Rare Disease Collaborative, Boston Children’s Hospital
- Maya Chopra
- Children’s Rare Disease Collaborative, Boston Children’s Hospital
- Janet Chou
- Children’s Rare Disease Collaborative, Boston Children’s Hospital
- Wendy K. Chung
- Children’s Rare Disease Collaborative, Boston Children’s Hospital
- Alissa M. D’Gama
- Children’s Rare Disease Collaborative, Boston Children’s Hospital
- Ryan N. Doan
- Division of Genetics and Genomics, Boston Children’s Hospital
- Darius Ebrahimi-Fakhari
- Children’s Rare Disease Collaborative, Boston Children’s Hospital
- Richard D. Goldstein
- Children’s Rare Disease Collaborative, Boston Children’s Hospital
- Mira Irons
- Division of Genetics and Genomics, Boston Children’s Hospital
- Christina Jacobsen
- Children’s Rare Disease Collaborative, Boston Children’s Hospital
- Margaret Kenna
- Children’s Rare Disease Collaborative, Boston Children’s Hospital
- Ted Lee
- Children’s Rare Disease Collaborative, Boston Children’s Hospital
- Jill A. Madden
- Children’s Rare Disease Collaborative, Boston Children’s Hospital
- Amar J. Majmundar
- Children’s Rare Disease Collaborative, Boston Children’s Hospital
- Nina Mann
- Children’s Rare Disease Collaborative, Boston Children’s Hospital
- Sarah U. Morton
- Department of Pediatrics, Harvard Medical School
- Annapurna Poduri
- Children’s Rare Disease Collaborative, Boston Children’s Hospital
- Adrienne G. Randolph
- Children’s Rare Disease Collaborative, Boston Children’s Hospital
- Amy E. Roberts
- Children’s Rare Disease Collaborative, Boston Children’s Hospital
- Stephanie Roberts
- Children’s Rare Disease Collaborative, Boston Children’s Hospital
- Matthew G. Sampson
- Children’s Rare Disease Collaborative, Boston Children’s Hospital
- Diane D. Shao
- Children’s Rare Disease Collaborative, Boston Children’s Hospital
- Wanqing Shao
- Children’s Rare Disease Collaborative, Boston Children’s Hospital
- Aditi Sharma
- Children’s Rare Disease Collaborative, Boston Children’s Hospital
- Eliot Shearer
- Children’s Rare Disease Collaborative, Boston Children’s Hospital
- Akiko Shimamura
- Children’s Rare Disease Collaborative, Boston Children’s Hospital
- Scott B. Snapper
- Children’s Rare Disease Collaborative, Boston Children’s Hospital
- Siddharth Srivastava
- Children’s Rare Disease Collaborative, Boston Children’s Hospital
- Jay R. Thiagarajah
- Children’s Rare Disease Collaborative, Boston Children’s Hospital
- Mary C. Whitman
- Children’s Rare Disease Collaborative, Boston Children’s Hospital
- Monica H. Wojcik
- Children’s Rare Disease Collaborative, Boston Children’s Hospital
- Shira Rockowitz
- Children’s Rare Disease Collaborative, Boston Children’s Hospital
- Piotr Sliz
- Children’s Rare Disease Collaborative, Boston Children’s Hospital
- DOI
- https://doi.org/10.1038/s41525-024-00441-9
- Journal volume & issue
-
Vol. 9,
no. 1
pp. 1 – 11
Abstract
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.
