Immunologic Research

, Volume 60, Issue 1, pp 145–152 | Cite as

An analysis and decision tool to measure cost benefit of newborn screening for severe combined immunodeficiency (SCID) and related T-cell lymphopenia

Article

Abstract

Severe combined immunodeficiency (SCID) is a group of syndromes resulting from genetic defects causing absence in T-cell and B-cell function, leading to serious and life-threatening infections. SCID is often fatal in the first 2 years of life if not identified and properly treated. While additional laboratory methods are being developed, the current T-cell receptor excision circle assay has proven to have outstanding specificity and sensitivity to accurately identify infants with SCID and other T-cell lymphopenia. The Jeffrey Modell Foundation (JMF) has a long history of advocacy and continues to promote newborn screening for SCID to be implemented in the United States and worldwide. Based on reports provided by California, New York, Texas, and Wisconsin on the results of their population based newborn screening programs, the overall incidence of SCID averaged 1:33,000 and T-cell lymphopenia averaged 1:6,600. JMF has developed a working algorithm or “decision tree”, validated by peer-reviewed scientific literature, to be used by Public Health Departments and Health Ministries in states, countries, and regions throughout the world. This decision tool allows for local or regional data to be applied to measure the threshold and economic impact of implementing newborn screening for SCID and T-cell lymphopenia.

Keywords

Newborn screening Severe combined immunodeficiency (SCID) T-cell lymphopenia TREC assay Bone marrow transplantation 

References

  1. 1.
    Buckley RH, Schiff SE, Schif RI, et al. Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency. N Engl J Med. 1999;340(7):508–16.CrossRefPubMedGoogle Scholar
  2. 2.
    Buckley RH. Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: longterm outcomes. Immunol Res. 2011;49:25–43.PubMedCentralCrossRefPubMedGoogle Scholar
  3. 3.
    Myers LA, Patel DD, Puck JM, Buckley RH. Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival. Blood. 2002;99:872–8.CrossRefPubMedGoogle Scholar
  4. 4.
    Patel NC, et al. Outcomes of severe combined immunodeficiency patients treated with hematopoietic stem cell transplantation with and without pre-conditioning. J Allergy Clin Immunol. 2009;124(5):1062-9.e1–4.CrossRefGoogle Scholar
  5. 5.
    Puck JM. Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor exision circles. In: Boyce JA, Finkelman F, Shearer WT, Vercelli D, editors. J Allergy Clin Immunol. 2012;129:607–16.Google Scholar
  6. 6.
    Buckley RH. The multiple causes of human SCID. J Clin Investig. 2004;114:1409–11.PubMedCentralCrossRefPubMedGoogle Scholar
  7. 7.
    Baker M. Universal newborn screening for severe combined immunodeficiency (SCID). [PowerPoint]. Atlanta, GA: APHL CDC Newborn Screening Molecular Workshop; 2012.Google Scholar
  8. 8.
    Routes JM, Grossman WJ, Verbsky J, Laessig RH, Hoffman GL, Brokopp CD, Baker MW. Statewide newborn screening for severe T-cell lymphopenia. JAMA. 2009;302(22):2465–70.CrossRefPubMedGoogle Scholar
  9. 9.
    Sebelius, K. (2010, May 21). Letter to the committee chairperson for the Secretary’s advisory committee on heritable disorders in newborns and children US Department of Health and Human Services. http://tinyurl.com/l9baeng.
  10. 10.
    The University of Texas Health Science Center at San Antonio (UTHSCSA). National newborn screening status report. November 21, 2011. http://genes-r-us.uthscsa.edu.
  11. 11.
    Chan K, Davis J, Pai SY, Bonilla FA, Puck JM, Apkon M. A Markov model to analyze cost-effectiveness of screening for severe combined immunodeficiency (SCID). Mol Genet Metab. 2011;104(3):383–9.PubMedCentralCrossRefPubMedGoogle Scholar
  12. 12.
    Lipstein EA, et al. Systematic evidence review of newborn screening and treatment of severe combined immunodeficiency. Pediatrics. 2010;125:e1226–35. doi:10.1542/peds.2009-1567.CrossRefPubMedGoogle Scholar
  13. 13.
    Kwan A, Church JA, Cowan MJ, Agarwal R, Kapoor N, Kohn DB, Lewis DB, McGhee SA, Moore TB, Stiehm ER, Porteus M, Aznar CP, Currier R, Lorey F, Puck JM. Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years. J Allergy Clin Immunol. 2013;132(1):140–50.Google Scholar
  14. 14.
    Hospital Cost and Utilization Project (HCUP), Nationwide Inpatient Database under the auspices of the Agency for Healthcare Research and Quality (AHRQ). ICD-9 CM Principal Diagnosis Code for HSCT.Google Scholar
  15. 15.
    Centers for Medicare and Medicaid Services, Hospital Accounting Records, April 28, 2010.Google Scholar
  16. 16.
    Caggana M, Brower A, Baker M, Comeau AM, Lorey F. National SCID Pilot Study. http://preview.tinyurl.com/lsanbqh.
  17. 17.
    Kuehn BM. State, federal efforts under way to identify children with “Bubble Boy Syndrome”. JAMA. 2010;304(16):1771–3.CrossRefPubMedGoogle Scholar
  18. 18.
    Appelbaum B. As US Agencies put more value on a life, businesses fret [Newspaper]. New York Times, February 16, 2011. http://tinyurl.com/mlynth7. Accessed 16 Aug 2013.
  19. 19.
    CBCNews Canada. ‘Bubble boy’ welcomes new Ontario screening test. Published online Aug 20, 2013. http://www.cbc.ca/news/canada/story/2013/08/20/newborn-screening-bubble-boy-scid.html. Accessed 21 Aug 2013.
  20. 20.
    Antoine C, Muller S, Cant A, et al. Long-term survival and transplantation of hemopoietic stem cells for immunodeficiencies; report of the European experience 1986–1999. Lancet. 2003;361(9357):553–60.CrossRefPubMedGoogle Scholar
  21. 21.
    Hassan A, Booth C, Brightwell A, et al. Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiency. Blood. 2012;120(17):3615–24.CrossRefPubMedGoogle Scholar
  22. 22.
    Modell V, Gee B, Lewis DB, Orange JS, Roifman CM, Routes JM, Sorensen RU, Notarangelo LD, Modell F. Global study of primary immunodeficiency diseases (PI)—diagnosis, treatment, and economic impact: an updated report from the Jeffrey Modell Foundation. Immunol Res. 2011;51:61–70.CrossRefPubMedGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2014

Authors and Affiliations

  1. 1.Jeffrey Modell FoundationNew YorkUSA

Personalised recommendations