Rapid Genome Sequencing for Diagnosing Critically Ill Infants and Children: From Evidence to Equitable Implementation

November 30, 2023, 12:00 pm – 1:00 pm ET

Stephen F. Kingsmore

Stephen F. Kingsmore, MB, ChB, BAO, DSc, FRCPath
President/CEO of Rady Children’s Institute for Genomic Medicine
San Diego, California

Dr. Stephen F. Kingsmore is president/CEO of Rady Children’s Institute for Genomic Medicine (RCIGM), where he leads a multidisciplinary team that is pioneering the use of rapid genome sequencing to diagnose critically ill children, implement precision medicine, and screen for approximately 500 genetic disorders. Among his achievements, Dr. Kingsmore holds two Guinness World Records for achieving the fastest molecular diagnosis using whole genome sequencing. Before RCIGM, he was the Dee Lyons/Missouri Endowed Chair in genomic medicine at the University of Missouri-Kansas City School of Medicine and director of the Center for Pediatric Genomic Medicine at Children’s Mercy Hospital, Kansas City. Dr. Kingsmore received MB, ChB, BAO, BSc, and DSc degrees from the Queen’s University of Belfast. He trained in clinical immunology in Northern Ireland and did residency in internal medicine and fellowship in rheumatology at Duke University Medical Center.

Selected References

  1. Rapid whole genome sequencing for diagnosis of single locus genetic diseases in critically ill children. Owen MJ, Batalov S, Ellsworth KA, et al. Methods Mol Biol. 2023;2621:217-239.
  2. Genomic sequencing has a high diagnostic yield in children with congenital anomalies of the heart and urinary system. Allred ET, Perens EA, Coufal NG, et al. Front Pediatr. 2023 Mar 14;11:1157630.
  3. Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning. Peterson B, Hernandez EJ, Hobbs C, et al. Genome Med. 2023 Mar 16;15(1):18.
  4. Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots. Ding Y, Owen M, Le J, Batalov S, et al. NPJ Genom Med. 2023 Feb 14;8(1):5.
  5. Reclassification of the etiology of infant mortality with whole-genome sequencing. Owen MJ, Wright MS, Batalov S, et al. JAMA Netw Open. 2023 Feb 1;6(2):e2254069.
  6. Dispatches from Biotech beginning BeginNGS: rapid newborn genome sequencing to end the diagnostic and therapeutic odyssey. Kingsmore SF; BeginNGS Consortium. Am J Med Genet C Semin Med Genet. 2022 Jun;190(2):243-256.
  7. A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases. Kingsmore SF, et al. Am J Hum Genet. 2022 Sep 1;109(9):1605-1619.
  8. The role of genome sequencing in neonatal intensive care units. Kingsmore SF, Cole FS. Annu Rev Genomics Hum Genet. 2022 Aug 31;23:427-448.
  9. 2022: a pivotal year for diagnosis and treatment of rare genetic diseases. Kingsmore SF. Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2):a006204. doi: 10.1101/mcs.a006204. Print 2022 Feb.
  10. Retrospective identification of prenatal fetal anomalies associated with diagnostic neonatal genomic sequencing results. Zhang-Rutledge K, Owen M, Sweeney NM, et al. Prenat Diagn. 2022 May;42(6):705-716.
  11. Cost efficacy of rapid whole genome sequencing in the pediatric intensive care unit. Sanford Kobayashi E, Waldman B, Engorn BM, et al. Front Pediatr. 2022 Jan 24;9:809536. doi: 10.3389/fped.2021.809536. eCollection 2021
  12. Rapid whole-genome sequencing in critically ill children: shifting from unease to evidence, education, and equitable implementation. Franck LS, Dimmock D, Hobbs C, et al. J Pediatr. 2021 Nov;238:343.
  13. Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care. Dimmock D, Caylor S, Waldman B, et al. Am J Hum Genet. 2021 Jul 1;108(7):1231-1238.
  14. Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease. Sweeney NM, Nahas SA, Chowdhury S, et al. NPJ Genom Med. 2021 Apr 22;6(1):29.
  15. A prospective study of parental perceptions of rapid whole-genome and -exome sequencing among seriously ill infants. Cakici JA, Dimmock DP, Caylor SA, et al. Am J Hum Genet. 2020 Nov 5;107(5):953-962. doi: 10.1016/j.ajhg.2020.10.004.
  16. Novel variant findings and challenges associated with the clinical integration of genomic testing: an interim report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) Study. Maron JL, Kingsmore SF, et al. JAMA Pediatr. 2021 May 1;175(5):e205906. doi: 10.1001/jamapediatrics.2020.5906. Epub 2021 May 3
  17. An RCT of rapid genomic sequencing among seriously ill infants results in high clinical utility, changes in management, and low perceived harm. Dimmock DP, Clark MM, Gaughran M, et al.; RCIGM Investigators. Am J Hum Genet. 2020 Nov 5;107(5):942-952.
  18. Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing. Kingsmore SF, Henderson A, Owen MJ, et al. NPJ Genom Med. 2020 Nov 2;5:49. doi: 10.1038/s41525-020-00155-8. eCollection 2020.
  19. Is rapid exome sequencing standard of care in the neonatal and pediatric intensive care units? Kingsmore SF. J Pediatr. 2020 Nov;226:14-15.
  20. Rapid whole genome sequencing has clinical utility in children in the PICU. Sanford EF, Clark MM, Farnaes L; RCIGM Investigators. Pediatr Crit Care Med. 2019 Nov;20(11):1007-1020.

Hosted by

  • Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
  • Precision Public Health Network, University of North Carolina at Chapel Hill