Newborn Sequencing in Genomic Medicine and Public Health

Author:

Berg Jonathan S.1,Agrawal Pankaj B.23,Bailey Donald B.4,Beggs Alan H.3,Brenner Steven E.5,Brower Amy M.6,Cakici Julie A.7,Ceyhan-Birsoy Ozge8,Chan Kee9,Chen Flavia10,Currier Robert J.11,Dukhovny Dmitry12,Green Robert C.13,Harris-Wai Julie1014,Holm Ingrid A.3,Iglesias Brenda15,Joseph Galen16,Kingsmore Stephen F.7,Koenig Barbara A.14,Kwok Pui-Yan1017,Lantos John18,Leeder Steven J.18,Lewis Megan A.4,McGuire Amy L.19,Milko Laura V.1,Mooney Sean D.20,Parad Richard B.21,Pereira Stacey19,Petrikin Joshua18,Powell Bradford C.1,Powell Cynthia M.22,Puck Jennifer M.23,Rehm Heidi L.8,Risch Neil10,Roche Myra22,Shieh Joseph T.1024,Veeraraghavan Narayanan7,Watson Michael S.6,Willig Laurel18,Yu Timothy W.3,Urv Tiina25,Wise Anastasia L.15

Affiliation:

1. Departments of Genetics and

2. Divisions of Newborn Medicine and

3. Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;

4. RTI International, Research Triangle Park, North Carolina;

5. University of California, Berkeley, California;

6. American College of Medical Genetics and Genomics, Bethesda, Maryland;

7. Rady Children’s Institute for Genomic Medicine, San Diego, California;

8. Laboratory for Molecular Medicine,

9. Chicago School of Public Health, University of Illinois, Chicago, Illinois;

10. Institute for Human Genetics,

11. Genetic Disease Screening Program, California Department of Public Health, Sacramento, California;

12. Department of Pediatrics and Division of Neonatology, Oregon Health & Science University, Portland, Oregon;

13. Division of Genetics, and

14. Institute for Health and Aging,

15. National Human Genome Research Institute and

16. Department of Anthropology, History, and Social Medicine,

17. Cardiovascular Research Institute, and Department of Dermatology,

18. Department of Pediatrics, Children’s Mercy Hospital, Kansas City, Missouri;

19. Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, Texas; and

20. University of Washington, Seattle, Washington

21. Department of Pediatric Newborn Medicine, Brigham and Women’s Hospital, Harvard Medical School, Boston, Massachusetts;

22. Pediatrics, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, North Carolina;

23. Department of Pediatrics, University of California, San Francisco, California;

24. Department of Pediatrics, Benioff Children’s Hospital, and

25. National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, Maryland;

Abstract

The rapid development of genomic sequencing technologies has decreased the cost of genetic analysis to the extent that it seems plausible that genome-scale sequencing could have widespread availability in pediatric care. Genomic sequencing provides a powerful diagnostic modality for patients who manifest symptoms of monogenic disease and an opportunity to detect health conditions before their development. However, many technical, clinical, ethical, and societal challenges should be addressed before such technology is widely deployed in pediatric practice. This article provides an overview of the Newborn Sequencing in Genomic Medicine and Public Health Consortium, which is investigating the application of genome-scale sequencing in newborns for both diagnosis and screening.

Publisher

American Academy of Pediatrics (AAP)

Subject

Pediatrics, Perinatology, and Child Health

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