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

doi:10.1038/s41525-024-00441-9

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

NPJ Genom Med. 2024 Dec 2;9(1):60. doi: 10.1038/s41525-024-00441-9.

Authors

Courtney E French¹, Nancy C Andrews^{2

3}, Alan H Beggs^{1

2

3

4

5}, Philip M Boone^{1

2

3}, Catherine A Brownstein^{1

2

3

4}, Maya Chopra^{1

6}, Janet Chou^{1

3

7}, Wendy K Chung^{1

2

3

5}, Alissa M D'Gama^{1

3

8

9}, Ryan N Doan^{2

3}, Darius Ebrahimi-Fakhari^{1

9

10}, Richard D Goldstein^{1

3

11}, Mira Irons^{2

3}, Christina Jacobsen^{1

2

3

12}, Margaret Kenna^{1

13

14}, Ted Lee^{1

15

16}, Jill A Madden^{1

2

3

4}, Amar J Majmundar^{1

3

17}, Nina Mann^{1

3

17}, Sarah U Morton^{3

4

5

8}, Annapurna Poduri^{1

9

18}, Adrienne G Randolph^{1

3

19

20}, Amy E Roberts^{1

2

3

21}, Stephanie Roberts^{1

3

12}, Matthew G Sampson^{1

3

5

17

22}, Diane D Shao^{1

9}, Wanqing Shao¹, Aditi Sharma¹, Eliot Shearer^{1

13

14}, Akiko Shimamura^{1

3

23

24}, Scott B Snapper^{1

3

25}, Siddharth Srivastava^{1

6

9}, Jay R Thiagarajah^{1

3

25}, Mary C Whitman^{1

10

26

27}, Monica H Wojcik^{1

2

3

4

5

8}, Shira Rockowitz^{1

2

3

4}, Piotr Sliz^{28

29

30

31

32}

Affiliations

¹ Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.
² Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
³ Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
⁴ The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.
⁵ Broad Institute of MIT and Harvard, Cambridge, MA, USA.
⁶ Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA, USA.
⁷ Division of Immunology, Boston Children's Hospital, Boston, MA, USA.
⁸ Division of Newborn Medicine, Boston Children's Hospital, Boston, MA, USA.
⁹ Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
¹⁰ F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.
¹¹ Division of General Pediatrics, Boston Children's Hospital, Boston, MA, USA.
¹² Division of Endocrinology, Boston Children's Hospital, Boston, MA, USA.
¹³ Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Boston, MA, USA.
¹⁴ Department of Otolaryngology Head and Neck Surgery, Harvard Medical School, Boston, MA, USA.
¹⁵ Department of Urology, Boston Children's Hospital, Boston, MA, USA.
¹⁶ Department of Surgery, Harvard Medical School, Boston, MA, USA.
¹⁷ Division of Nephrology, Boston Children's Hospital, Boston, MA, USA.
¹⁸ Department of Neurology, Harvard Medical School, Boston, MA, USA.
¹⁹ Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Boston, MA, USA.
²⁰ Department of Anaesthesia, Harvard Medical School, Boston, MA, USA.
²¹ Department of Cardiology, Boston Children's Hospital, Boston, MA, USA.
²² Division of Nephrology, Brigham and Women's Hospital, Boston, MA, USA.
²³ Department of Hematology and Oncology, Boston Children's Hospital, Boston, MA, USA.
²⁴ Dana Farber Cancer Institute, Boston, MA, USA.
²⁵ Division of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Boston, MA, USA.
²⁶ Department of Ophthalmology, Boston Children's Hospital, Boston, MA, USA.
²⁷ Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.
²⁸ Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA. Piotr.Sliz@childrens.harvard.edu.
²⁹ Department of Pediatrics, Harvard Medical School, Boston, MA, USA. Piotr.Sliz@childrens.harvard.edu.
³⁰ The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA. Piotr.Sliz@childrens.harvard.edu.
³¹ Division of Molecular Medicine, Boston Children's Hospital, Boston, MA, USA. Piotr.Sliz@childrens.harvard.edu.
³² Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA, USA. Piotr.Sliz@childrens.harvard.edu.

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.

Grants and funding

K08 DK125768/DK/NIDDK NIH HHS/United States