Skip to main content
SpringerLink
Log in
Book cover

Rare Diseases Epidemiology: Update and Overview pp 323–346Cite as

Newborn Screening: Beyond the Spot

  • Chapter
  • First Online:

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 1031))

Abstract

The newborn screening paradigm of testing all newborns in the United States for treatable conditions within the first few hours of birth has proven to be a remarkable success story in the realm of public health by reducing neonatal and childhood morbidity and mortality. The Newborn Screening Saves Lives Act of 2007 and its successor, the Reauthorization Act of 2014, legislated the establishment of a Department of Health and Human Services Advisory Committee to make recommendations around newborn screening and a methodology to establish and add new conditions to a Recommended Uniform Screening Panel (RUSP) which currently includes 34 core conditions. In spite of the absence of a federal mandate that requires each of the states in the U.S. to screen for the disorders on the RUSP, most state public health laboratories have adopted the conditions on this panel. Moreover, the evolution of the evidence-based review process for adding new conditions to the RUSP has led to improvements in incorporating the public health impact and feasibility and implementation considerations. The cooperation between the federal partners who support implementation and rollout of state-based screening programs, develop technical standards and proficiency materials for laboratories, review and approve new technology platforms, and promote research to develop new assays and treatments for screenable disorders, points to the success of the newborn screening enterprise nationwide. As new technologic advances are made in the realm of genomic sequencing, the potential for incorporating these technologies holds great promise for newborn screening, but the ethical ramifications must be carefully considered to avoid harming the existing trust in the program.

This is a preview of subscription content, log in via an institution.

Abbreviations

ACHDNC:

Advisory Committee on Heritable Disorders in Newborns and Children

ACMG:

American College of Medical Genetics and Genomics

APHL:

Association of Public Health Laboratories

CCHD:

Critical Congenital Heart Disease

CDC:

Centers for Disease Control and Prevention

CLIR:

Collaborative Laboratory Integrated Reports

CRF:

case report forms

ELSI:

Ethical, Legal and Social Issues

HHS:

Department of Health and Human Services

HRSA:

Health Resources and Services Administration

IRB:

Institutional Review Board

NBSTRN:

Newborns Screening Translational Research Network

NHGRI:

National Human Genomic Research Institute

NICHD:

Eunice Kennedy Shriver National Institute of Child Health and Human Development

NICU:

Neonatal intensive care unit

NIH:

National Institutes of Health

PKU:

Phenylketonuria

R4S:

Region 4 Stork

RUSP:

Recommended Uniform Screening Panel

SCID:

Severe Combined Immunodeficiency;

TMS:

Tandem Mass Spectrometry

References

  1. Bailey DB Jr, Gehtland L (2015) Newborn screening: evolving challenges in an era of rapid discovery. JAMA 313(15):1511–1512

    Article  CAS  PubMed  Google Scholar 

  2. Baker MW, Laessig RH, Katcher ML, Routes JM, Grossman WJ, Verbsky J et al (2010) Implementing routine testing for severe combined immunodeficiency within Wisconsin’s newborn screening program. Public Health Rep 125(Suppl 2):88–95

    Article  PubMed  PubMed Central  Google Scholar 

  3. Berg JS, Agrawal PB, Bailey DB Jr, Beggs AH, Brenner SE, Brower AM et al (2017) Newborn sequencing in genomic medicine and public health. Pediatrics 139(2):e20162252

    Article  PubMed  Google Scholar 

  4. Berry SA (2015) Newborn screening. Clin Perinatol 42(2):441–453. x

    Article  PubMed  Google Scholar 

  5. Botkin J (2016) Pilot study workgroup–report. In: HHS (ed) Advisory committee on heritable disorders in newborns and children, pp 6–10. Available from: https://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/meetings/2016/eleventh/achdncmay2016meetingminutes.pdf

  6. Brief History of Newborn Screening. In: HHS (ed). https://www.nichd.nih.gov/health/topics/newborn/conditioninfo/pages/history.aspx: Eunice Kennedy Shriver National Institute of Child Health and Human Development

  7. Brosco JP (2011) Hidden in the sixties: newborn screening programs and state authority. Arch Pediatr Adolesc Med 165(7):589–591

    Article  PubMed  Google Scholar 

  8. Calonge N, Green NS, Rinaldo P, Lloyd-Puryear M, Dougherty D, Boyle C et al (2010) Committee report: method for evaluating conditions nominated for population-based screening of newborns and children. Genet Med 12(3):153–159

    Article  PubMed  Google Scholar 

  9. CDC (2011) Ten great public health achievements– United States, 2001–2010. Morb Mortal Wkly Rep (MMWR) [Internet], 60(19), 619–623. Available from: https://www.cdc.gov/mmwr/preview/mmwrhtml/mm6019a5.htm

  10. Ceyhan-Birsoy O, Machini K, Lebo MS, Yu TW, Agrawal PB, Parad RB et al (2017) A curated gene list for reporting results of newborn genomic sequencing. Genet Med. https://doi.org/10.1038/gim.2016.193

  11. Comeau AM, Hale JE, Pai SY, Bonilla FA, Notarangelo LD, Pasternack MS et al (2010) Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency. J Inherit Metab Dis 33(Suppl 2):273–281

    Article  Google Scholar 

  12. Feuchtbaum L, Carter J, Dowray S, Currier RJ, Lorey F (2012) Birth prevalence of disorders detectable through newborn screening by race/ethnicity. Genet Med 14(11):937–945

    Article  PubMed  Google Scholar 

  13. Goldenberg AJ, Comeau AM, Grosse SD, Tanksley S, Prosser LA, Ojodu J et al (2016) Evaluating harms in the assessment of net benefit: a framework for newborn screening condition review. Matern Child Health J 20(3):693–700

    Article  PubMed  PubMed Central  Google Scholar 

  14. Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL et al (2013) ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med 15(7):565–574

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  15. Grosse SD (2005) Does newborn screening save money? the difference between cost-effective and cost-saving interventions. J Pediatr 146(2):168–170

    Article  PubMed  Google Scholar 

  16. Hall PL, Marquardt G, McHugh DM, Currier RJ, Tang H, Stoway SD et al (2014) Postanalytical tools improve performance of newborn screening by tandem mass spectrometry. Genet Med 16(12):889–895

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  17. Hopkins PV, Campbell C, Klug T, Rogers S, Raburn-Miller J, Kiesling J (2015) Lysosomal storage disorder screening implementation: findings from the first six months of full population pilot testing in Missouri. J Pediatr 166(1):172–177

    Article  PubMed  Google Scholar 

  18. Hui L, Bianchi DW (2013) Recent advances in the prenatal interrogation of the human fetal genome. Trends Genet 29(2):84–91

    Article  CAS  PubMed  Google Scholar 

  19. Jordan LB, Smith-Whitley K, Treadwell MJ, Telfair J, Grant AM, Ohene-Frempong K (2011) Screening U.S. college athletes for their sickle cell disease carrier status. Am J Prev Med 41(6 Suppl 4):S406–S412

    Article  PubMed  Google Scholar 

  20. Kemper AR, Green NS, Calonge N, Lam WK, Comeau AM, Goldenberg AJ et al (2014) 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 16(2):183–187

    Article  PubMed  Google Scholar 

  21. Kemper AR, Kus CA, Ostrander RJ, Comeau AM, Boyle CA, Dougherty D et al (2012) A framework for key considerations regarding point-of-care screening of newborns. Genet Med 14(12):951–954

    Article  PubMed  PubMed Central  Google Scholar 

  22. Kemper AR, Uren RL, Moseley KL, Clark SJ (2006) Primary care physicians’ attitudes regarding follow-up care for children with positive newborn screening results. Pediatrics 118(5):1836–1841

    Article  PubMed  Google Scholar 

  23. Kwan A, Abraham RS, Currier R, Brower A, Andruszewski K, Abbott JK et al (2014) Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA 312(7):729–738

    Article  PubMed  PubMed Central  Google Scholar 

  24. Marquardt G, Currier R, McHugh DM, Gavrilov D, Magera MJ, Matern D et al (2012) Enhanced interpretation of newborn screening results without analyte cutoff values. Genet Med 14(7):648–655

    Article  PubMed  Google Scholar 

  25. McHugh D, Cameron CA, Abdenur JE, Abdulrahman M, Adair O, Al Nuaimi SA et al (2011) Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. Genet Med 13(3):230–254

    Article  PubMed  Google Scholar 

  26. Natarajan P, Gold NB, Bick AG, McLaughlin H, Kraft P, Rehm HL et al (2016) Aggregate penetrance of genomic variants for actionable disorders in European and African Americans. Sci Transl Med 8(364):364ra151

    Article  PubMed  Google Scholar 

  27. Neufeld-Kaiser WA, Cheng EY, Liu YJ (2015) Positive predictive value of non-invasive prenatal screening for fetal chromosome disorders using cell-free DNA in maternal serum: independent clinical experience of a tertiary referral center. BMC Med 13:129

    Article  PubMed  PubMed Central  Google Scholar 

  28. Newborn Screening ACT sheets and Confirmatory Algorithms [Internet]. [cited 01–17-2017]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK55827/

  29. Newborn Screening: Toward a Uniform Screening Panel and System (2006). In: HHS (ed). https://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/reportsrecommendations/index.html2006. pp 7–77

  30. Oster ME, Aucott SW, Glidewell J, Hackell J, Kochilas L, Martin GR et al (2016) Lessons learned from newborn screening for critical congenital heart defects. Pediatrics 137(5):e20154573

    Article  PubMed  PubMed Central  Google Scholar 

  31. Perrin JM, Knapp AA, Browning MF, Comeau AM, Green NS, Lipstein EA et al (2010) An evidence development process for newborn screening. Genet Med 12(3):131–134

    Article  PubMed  Google Scholar 

  32. Prosser LA, Grosse SD, Kemper AR, Tarini BA, Perrin JM (2012) Decision analysis, economic evaluation, and newborn screening: challenges and opportunities. Genet Med 14(8):703–712. https://doi.org/10.1038/gim.2012.24

    Article  Google Scholar 

  33. Saunders CJ, Miller NA, Soden SE, Dinwiddie DL, Noll A, Alnadi NA et al (2012) Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. Sci Transl Med 4(154):154ra35

    Article  Google Scholar 

  34. Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children 2011 Annual Report to Congress (2011). In: HHS (ed) Health Resources and Services Administration, p 51

    Google Scholar 

  35. Sista RS, Wang T, Wu N, Graham C, Eckhardt A, Winger T et al (2013) Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform. Clin Chim Acta 424:12–18

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  36. Therrell BL Jr, Lloyd-Puryear MA, Camp KM, Mann MY (2014) Inborn errors of metabolism identified via newborn screening: ten-year incidence data and costs of nutritional interventions for research agenda planning. Mol Genet Metab 113(1–2):14–26

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  37. Thompson AA (2013) Sickle cell trait testing and athletic participation: a solution in search of a problem? Hematol Am Soc Hematol Educ Program 2013:632–637

    Google Scholar 

  38. Timeliness in Newborn Screening letter to Secretary of HHS. https://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/recommendations/timelynewbornscreeninggoalschainletter.pdf : HHS; 2015

  39. Waisbren SE, Back DK, Liu C, Kalia SS, Ringer SA, Holm IA et al (2015) Parents are interested in newborn genomic testing during the early postpartum period. Genet Med 17(6):501–504

    Article  PubMed  Google Scholar 

  40. Watson MS, Mann MY, Lloyd-Puryear MA, Rinaldo P, Howell RR (2006) Newborn screening: toward a uniform screening panel and system. Genet Med 8(Suppl 1):1S–252S

    Article  Google Scholar 

  41. What is Newborn Screening – FAQs: Association of Public Health Laboratories. Available from: https://www.aphl.org/programs/newborn_screening/Pages/What-is-Newborn-Screening.aspx

  42. Wilson JM, Jungner G (1968) Principles and practice of screening for disease. World Health Organization, Geneva

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Division of Clinical Innovation, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA

    Tiina K. Urv

  2. Intellectual and Developmental Disabilities Branch, Eunice Kennedy Shriver, National Institute of Child Health and Human Development, National Institutes of Health, Democracy 1, Room 9108, 6701 Democracy Boulevard, Bethesda, MD, 20892-4874, USA

    Melissa A. Parisi

Authors
  1. Tiina K. Urv
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Melissa A. Parisi
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Tiina K. Urv .

Editor information

Editors and Affiliations

  1. RDR and CIBERER, Instituto de Salud Carlos III, Madrid, Spain

    Manuel Posada de la Paz

  2. Centro Nazionale Malattie Rare, Istituto Superiore di Sanita, Roma, Italy

    Domenica Taruscio

  3. National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, Maryland, USA

    Stephen C. Groft

Rights and permissions

Reprints and permissions

Copyright information

© 2017 Springer International Publishing AG

About this chapter

Check for updates. Verify currency and authenticity via CrossMark

Cite this chapter

Urv, T.K., Parisi, M.A. (2017). Newborn Screening: Beyond the Spot. In: Posada de la Paz, M., Taruscio, D., Groft, S. (eds) Rare Diseases Epidemiology: Update and Overview. Advances in Experimental Medicine and Biology, vol 1031. Springer, Cham. https://doi.org/10.1007/978-3-319-67144-4_19

Download citation

Publish with us

Policies and ethics

Search

Navigation