A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.

Autor:	Kingsmore SF; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA; Keck Graduate Institute, Claremont, CA 91711, USA. Electronic address: skingsmore@rchsd.org., Smith LD; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Kunard CM; Illumina, Inc., San Diego, CA 92122, USA., Bainbridge M; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA., Batalov S; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA., Benson W; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA., Blincow E; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA., Caylor S; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA., Chambers C; Department of Pediatrics, University of California San Diego, San Diego, CA 92093, USA., Del Angel G; Alexion, Astra Zeneca Rare Disease, Boston, MA 02210, USA., Dimmock DP; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA., Ding Y; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA., Ellsworth K; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA., Feigenbaum A; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA; Department of Pediatrics, University of California San Diego, San Diego, CA 92093, USA., Frise E; Fabric Genomics, Inc., Oakland, CA 94612, USA., Green RC; Mass General Brigham, Broad Institute, Ariadne Labs and Harvard Medical School, Boston, MA 02115, USA., Guidugli L; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA., Hall KP; Illumina, Inc., San Diego, CA 92122, USA., Hansen C; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA., Hobbs CA; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA., Kahn SD; Luna PBC, Inc., San Diego, CA 92121, USA., Kiel M; Genomenon Inc., Ann Arbor, MI 48108, USA., Van Der Kraan L; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA., Krilow C; TileDB Inc., Cambridge, MA 02142, USA., Kwon YH; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA., Madhavrao L; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA., Le J; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA., Lefebvre S; Alexion, Astra Zeneca Rare Disease, Boston, MA 02210, USA., Mardach R; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA; Department of Pediatrics, University of California San Diego, San Diego, CA 92093, USA., Mowrey WR; Alexion, Astra Zeneca Rare Disease, Boston, MA 02210, USA., Oh D; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA., Owen MJ; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA., Powley G; TileDB Inc., Cambridge, MA 02142, USA., Scharer G; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Shelnutt S; TileDB Inc., Cambridge, MA 02142, USA., Tokita M; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA., Mehtalia SS; Illumina, Inc., San Diego, CA 92122, USA., Oriol A; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA., Papadopoulos S; TileDB Inc., Cambridge, MA 02142, USA., Perry J; Rady Children's Hospital, San Diego, CA 92123, USA; Department of Pediatrics, University of California San Diego, San Diego, CA 92093, USA., Rosales E; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA., Sanford E; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Schwartz S; Genomenon Inc., Ann Arbor, MI 48108, USA., Tran D; Illumina, Inc., San Diego, CA 92122, USA., Reese MG; Fabric Genomics, Inc., Oakland, CA 94612, USA., Wright M; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA., Veeraraghavan N; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA., Wigby K; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA; Department of Pediatrics, University of California San Diego, San Diego, CA 92093, USA., Willis MJ; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Wolen AR; TileDB Inc., Cambridge, MA 02142, USA., Defay T; Alexion, Astra Zeneca Rare Disease, Boston, MA 02210, USA.
Jazyk:	angličtina
Zdroj:	American journal of human genetics [Am J Hum Genet] 2022 Sep 01; Vol. 109 (9), pp. 1605-1619. Date of Electronic Publication: 2022 Aug 24.
DOI:	10.1016/j.ajhg.2022.08.003
Abstrakt:	Newborn screening (NBS) dramatically improves outcomes in severe childhood disorders by treatment before symptom onset. In many genetic diseases, however, outcomes remain poor because NBS has lagged behind drug development. Rapid whole-genome sequencing (rWGS) is attractive for comprehensive NBS because it concomitantly examines almost all genetic diseases and is gaining acceptance for genetic disease diagnosis in ill newborns. We describe prototypic methods for scalable, parentally consented, feedback-informed NBS and diagnosis of genetic diseases by rWGS and virtual, acute management guidance (NBS-rWGS). Using established criteria and the Delphi method, we reviewed 457 genetic diseases for NBS-rWGS, retaining 388 (85%) with effective treatments. Simulated NBS-rWGS in 454,707 UK Biobank subjects with 29,865 pathogenic or likely pathogenic variants associated with 388 disorders had a true negative rate (specificity) of 99.7% following root cause analysis. In 2,208 critically ill children with suspected genetic disorders and 2,168 of their parents, simulated NBS-rWGS for 388 disorders identified 104 (87%) of 119 diagnoses previously made by rWGS and 15 findings not previously reported (NBS-rWGS negative predictive value 99.6%, true positive rate [sensitivity] 88.8%). Retrospective NBS-rWGS diagnosed 15 children with disorders that had been undetected by conventional NBS. In 43 of the 104 children, had NBS-rWGS-based interventions been started on day of life 5, the Delphi consensus was that symptoms could have been avoided completely in seven critically ill children, mostly in 21, and partially in 13. We invite groups worldwide to refine these NBS-rWGS conditions and join us to prospectively examine clinical utility and cost effectiveness. Competing Interests: Declaration of interests K.P.H., C.M.K., S.S.M., and D.T. are employees and shareholders of Illumina, Inc. G.D,A., B.M., S.L., and T.D. are employees and shareholders of Alexion Pharmaceuticals. E.F. and M.G.R. are employees and shareholders of Fabric Genomics, Inc. M.K. and S.S. are employees and shareholders of Genomenon, Inc. C.K., G.P., S.S., S.P., and A.R.W. are employees and shareholders of TileDB, Inc. S.K. is an employee and shareholder of Luna PBC, Inc. S.K. has filed a patent related to this work. (Copyright © 2022 The Author(s). Published by Elsevier Inc. All rights reserved.)
Databáze:	MEDLINE
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