Progress in expanding newborn screening in the United States

Affiliations

¹ National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA.
² Division of Laboratory Services, Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention, Atlanta, GA, USA.
³ Division of Laboratory Services, Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention, Atlanta, GA, USA; Association of Public Health Laboratories, Silver Spring, MD, USA.
⁴ Association of Public Health Laboratories, Silver Spring, MD, USA.
⁵ Department of Pediatrics, Nationwide Children's Hospital, Columbus, OH, USA.
⁶ Center for Public Health Innovation, CI International, Littleton, CO, USA.
⁷ National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA. Electronic address: sshapira@cdc.gov.

Comment

Scott D Grosse et al. Am J Hum Genet. 2023.

. 2023 Jun 1;110(6):1015-1016.

doi: 10.1016/j.ajhg.2023.05.002.

¹ National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA.
² Division of Laboratory Services, Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention, Atlanta, GA, USA.
³ Division of Laboratory Services, Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention, Atlanta, GA, USA; Association of Public Health Laboratories, Silver Spring, MD, USA.
⁴ Association of Public Health Laboratories, Silver Spring, MD, USA.
⁵ Department of Pediatrics, Nationwide Children's Hospital, Columbus, OH, USA.
⁶ Center for Public Health Innovation, CI International, Littleton, CO, USA.
⁷ National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA. Electronic address: sshapira@cdc.gov.

No abstract available

Comment in

Response to Grosse et al.
Kingsmore SF, Smith LD, Kunard CM, Bainbridge M, Batalov S, Benson W, Blincow E, Caylor S, Chambers C, Del Angel G, Dimmock DP, Ding Y, Ellsworth K, Feigenbaum A, Frise E, Green RC, Guidugli L, Hall KP, Hansen C, Hobbs CA, Kahn SD, Kiel M, Van Der Kraan L, Krilow C, Kwon YH, Madhavrao L, Le J, Lefebvre S, Mardach R, Mowrey WR, Oh D, Owen MJ, Powley G, Scharer G, Shelnutt S, Tokita M, Mehtalia SS, Oriol A, Papadopoulos S, Perry J, Rosales E, Sanford E, Schwartz S, Tran D, Reese MG, Wright M, Veeraraghavan N, Wigby K, Willis MJ, Wolen AR, Defay T. Kingsmore SF, et al. Am J Hum Genet. 2023 Jun 1;110(6):1017. doi: 10.1016/j.ajhg.2023.05.004. Am J Hum Genet. 2023. PMID: 37267897 Free PMC article. No abstract available.

A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.
Kingsmore SF, Smith LD, Kunard CM, Bainbridge M, Batalov S, Benson W, Blincow E, Caylor S, Chambers C, Del Angel G, Dimmock DP, Ding Y, Ellsworth K, Feigenbaum A, Frise E, Green RC, Guidugli L, Hall KP, Hansen C, Hobbs CA, Kahn SD, Kiel M, Van Der Kraan L, Krilow C, Kwon YH, Madhavrao L, Le J, Lefebvre S, Mardach R, Mowrey WR, Oh D, Owen MJ, Powley G, Scharer G, Shelnutt S, Tokita M, Mehtalia SS, Oriol A, Papadopoulos S, Perry J, Rosales E, Sanford E, Schwartz S, Tran D, Reese MG, Wright M, Veeraraghavan N, Wigby K, Willis MJ, Wolen AR, Defay T. Kingsmore SF, et al. Am J Hum Genet. 2022 Sep 1;109(9):1605-1619. doi: 10.1016/j.ajhg.2022.08.003. Epub 2022 Aug 24. Am J Hum Genet. 2022. PMID: 36007526 Free PMC article. Review.

1. Kingsmore S.F., Smith L.D., Kunard C.M., Bainbridge M., Batalov S., Benson W., Blincow E., Caylor S., Chambers C., Del Angel G., et al. A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases. Am. J. Hum. Genet. 2022;109:1605–1619. doi: 10.1016/j.ajhg.2022.08.003. - DOI - PMC - PubMed
1. Kemper A.R., Green N.S., Calonge N., Lam W.K.K., Comeau A.M., Goldenberg A.J., Ojodu J., Prosser L.A., Tanksley S., Bocchini J.A., Jr. Decision-making process for conditions nominated to the Recommended Uniform Screening Panel: statement of the US Department of Health and Human Services Secretary's Advisory Committee on Heritable Disorders in Newborns and Children. Genet. Med. 2014;16:183–187. doi: 10.1038/gim.2013.98. - DOI - PubMed
1. Bick D., Ahmed A., Deen D., Ferlini A., Garnier N., Kasperaviciute D., Leblond M., Pichini A., Rendon A., Satija A., et al. Newborn screening by genomic sequencing: opportunities and challenges. Int. J. Neonatal Screen. 2022;8 doi: 10.3390/ijns8030040. - DOI - PMC - PubMed
1. Centers for Disease Control and Prevention CDC Ten great public health achievements--United States, 2001-2010. MMWR Morb. Mortal. Wkly. Rep. 2011;60:619–623. - PubMed
1. Bailey D.B., Jr., Porter K.A., Andrews S.M., Raspa M., Gwaltney A.Y., Peay H.L. Expert evaluation of strategies to modernize newborn screening in the United States. JAMA Netw. Open. 2021;4 doi: 10.1001/jamanetworkopen.2021.40998. - DOI - PMC - PubMed