Newborn screening for severe combined immune deficiency (technical and political aspects)

Current Opinion in Allergy and Clinical Immunology

Volumn 15, Issue 6, 2015, Pages 539-546

  Kobrynski, Lisa ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Cost analysis; Newborn screening; Severe combined immune deficiency; T cell receptor excision circles

Indexed keywords

ASSAY; BIRTH; COST; COST BENEFIT ANALYSIS; COST CONTROL; DRIED BLOOD SPOT TESTING; EARLY DIAGNOSIS; EUROPE; FOLLOW UP; HEALTH CARE COST; HEALTH CARE PLANNING; HEALTH PROGRAM; HIGH THROUGHPUT SCREENING; HUMAN; LYMPHOCYTOPENIA; NEWBORN MORTALITY; NEWBORN SCREENING; PATIENT EDUCATION; PRIORITY JOURNAL; PUBLIC HEALTH PROBLEM; REVIEW; SEVERE COMBINED IMMUNODEFICIENCY; T LYMPHOCYTE; TREC ASSAY; UNITED STATES; ECONOMICS; IMMUNOLOGY; INFANT; LYMPHOPENIA; NEWBORN; PROCEDURES;

COST-BENEFIT ANALYSIS; EARLY DIAGNOSIS; EUROPE; HIGH-THROUGHPUT SCREENING ASSAYS; HUMANS; INFANT; INFANT, NEWBORN; LYMPHOPENIA; NEONATAL SCREENING; SEVERE COMBINED IMMUNODEFICIENCY; T-LYMPHOCYTES; UNITED STATES;

EID: 84947037033     PISSN: 15284050     EISSN: 14736322     Source Type: Journal    
DOI: 10.1097/ACI.0000000000000221     Document Type: Review

References (43)

1. Douek DC, McFarland RD, Keiser PH, et al. Changes in thymic function with age and during the treatment of HIV infection. Nature 1998;396:690-695.
2. Borte S, Von Döbeln U, Fasth A, et al. Neonatal screening for severe primary immunodeficiency diseases using a high-throughput triplex real time PCR. Blood 2012;119:2552-2555.
3. Borte S, Fasth A, Von Döbeln U, et al. Newborn screening for severe T and B cell lymphopenia identifies a fraction of patients with Wiskott-Aldrich syndrome. Clin Immunol 2014;155:74-78.
4. Chan K, Puck JM. Development of population-based newborn screening for severe combined immunodeficiency. J Allergy Clin Immunol 2005;115:391-398.
5. Baker MW, Grossman WJ, Laessig RH, et al. Development of a routine newborn screening protocol for severe combined immunodeficiency. J Allergy Clin Immunol 2009;124:522-527.
6. Burgard P, Rupp K, Lindner M, et al. Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2: From screening laboratory results to treatment, follow-up and quality assurance. J Inherit Metab Dis 2012;35:613-625; 5.
7. Wilson JMG, Jungner G. Principles and practice of screening for disease. WHO Chronicle, Geneva: World Health Organisation 1968;22:473.
8. HRSA Secretary's Advisory Committee on Heritable Disorders in Newborns and Children. Newborn screening for severe combined immunodeficiency disorder. http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritable disorders/recommendations/correspondence/combinedimmunodeficiency.pdf. [Accessed 5 February 2015]
9. Petros M. Revisiting the Wilson-Jungner criteria: how can supplemental criteria guide public health in the era of genetic screening? Genet Med 2012;14:129-134.
10. Brown L, Bayford J, Allwood Z, et al. Neonatal diagnosis of SCID leads to significantly improved survival outcome: the case for newborn screening. Blood 2011;117:3243-3246.
11. Pai SY, Logan BR, Griffith LM, et al. Transplantation outcomes for severe combined immunodeficiency, 2000-2009. New Engl J Med 2014;371:434-446.
12. Booth C, Gaspar HB. Pegademase bovine (PEG-ADA) for the treatment of infants and children with severe combined immunodeficiency (SCID). Biologics 2009;3:349-358.
13. Carbonaro DA, Zhang L, Jin X, et al. Preclinical demonstration of lentiviral vector-mediated correction of immunological and metabolic abnormalities in models of adenosine deaminase deficiency. Mole Ther 2014;22:607-622.
14. Aiuti A, Cattaneo F, Galimberti S, et al. Gene therapy for immunodeflciency due to adenosine deaminase deflciency. N Engl J Med 2009;360:447-458.
15. Hacein-Bey-Abina S, Pai SY, Gaspar HB, et al. A modified (-retrovirus vector for X-linked severe combined immunodeficiency. N Engl J Med 2014;371:1407-1417.
16. Kwan A, Abraham RS, Currier R, et al. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA 2014;312:729-738.
17. Walters S, Mehta A. Epidemiology of cystic flbrosis. In: Hodson M, Geddes DM, Bush A, editors. Cystic flbrosis, 3rd edn. London: Edward Arnold Ltd; 2007. pp. 21-45.
18. Quental S, Vilarinho L, Martins E, et al. Incidence of maple syrup urine disease in Portugal. Mole Genet Metab 2010;100:385-387.
19. Chuang DT, Shih VE. Maple syrup urine disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. Vol. II., 8th ed. New York: McGraw-Hill; 2001. pp. 1971-2005 (branched-chain ketoaciduria).
20. Chien YH, Chiang SC, Chang KL, et al. Incidence of severe combined immunodeficiency through newborn screening in a Chinese population. J Formos Med Assoc 2015;114:1-12.
21. Somech R, Lev A, Simon AJ, et al. Newborn screening for severe T and B cell immunodeficiency in Israel: a pilot study. IMAJ 2013;15:472-477.
22. Adams SP, Rashid S, Premachandra T, et al. Screening of neonatal UK dried blood spots using a duplex TREC screening assay. J Clin Immunol 2014;34:323-330.
23. Audrain M, Thomas C, Miraillie S. Evaluation of the T-cell receptor excision circle assay performances for severe combined immunodeficiency neonatal screening on Guthrie cards in a French single center study. Clin Immunol 2014;150:137-139.
24. Olbrich P, De Felipe B, Delgado-Pecellin C, et al. A first pilot study on the neonatal screening of primary immunodeficiency in Spain: TRECs and KRECs identify severe T-and B-cell lymphopaenia. An Pediatr 2014;81:310-317.
25. Loeber JG. Newborn screening programs in Europe. Presented at Association of Public Health Laboratories meeting, November 2011, San Diego, CA, USA.
26. Borte S, Von Döbeln U, Hammarström L. Guidelines for newborn screening of primary immunodeficiency diseases. Current Opin Hemat 2013;20:48-54.
27. Hale JE, Bonilla FA, Pai SY, et al. Identification of an infant with severe combined immunodeficiency by newborn screening. J Allergy Clin Immunol 2010;126:1073-1074.
28. Verbsky JW, Baker MW, Grossman WJ, et al. Newborn screening for severe combined immunodeficiency. J Allergy Clin Immunol 2012;32:82-88.
29. Kwan A, Church JA, Cowan MJ, et al. Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years. J Allergy Clin Immunol 2013;132:140-150.
30. Vogel BH, Bonagura V, Weinberg GA, et al. Newborn screening for SCID in New York State: experience from the first two years. J Clin Immunol 2014;34:289-303.
31. Hannon HW, Abraham RS, Kobrynski L, et al. NBS06-A. Newborn blood spot screening for severe combined immunodeficiency by measurement of T-cell receptor excision circles; approved guideline. Clin Lab Standards Inst 2013;33:1-92.
32. Punwani D, Gonzalez-Espinosa D, Comeau AM, et al. Cellular calibrators to quantitate T-cell receptor excision circles (TRECs) in clinical samples. Mol Genet Med 2012;107:586-591.
33. Chan K, Davis J, Pai SY, et al. A Markov model to analyze cost-effectiveness of screening for severe combined immunodeficiency (SCID). Mol Genet Metab 2011;104:383-389.
34. BabysFirstTest. http://www.babysfirsttest.org/newborn-screening/conditions/severe-combined-immunodeficiency-scid [Accessed 1 March 2015]. ACT sheet: http://www.ncbi.nlm.nih.gov/books/NBK55827/.
35. Comeau AM, Hale JE, Pai SY, et al. Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency. J Inherit Metab Dis 2010;33:S273-S281.
36. Hinton CF, Feuchtbaum L, Kus C, et al. What questions should newborn screening long-term follow-up be able to answer? A statement of the US Secretary for Health and Human Services Advisory Committee on Heritable Disorders in Newborns and Children. Genet Med 2011;13:861-865.
37. 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;99:872-878.
38. Langer A, Holle R, Jurgen J. Specific guidelines for assessing and improving the methodologic quality of economic evaluation of newborn screening. BMC Health Serv Res 2012;12:300-311.
39. Neumann PJ, Cohen JT, Weinstein MC. Updating cost-effectiveness - the curious resilience of the $50, 000-per-QALY threshold. N Engl J Med 2014;371:796-797.
40. Kubiak C, Jyonouchi S, Kuo C, et al. Fiscal implications of newborn screening in the diagnosis of severe combined immunodeficiency. J Allergy Clin Immunol Pract 2014;2:697-702.
41. Modell V, Knaus M, Modell F. An analysis and decision tool to measure cost benefit of newborn screening for severe combined immunodeficiency (SCID) and related T-cell lymphopenia. Immunol Res 2014;60:145-152.
42. Clement MC, Mahlaoui N, Mignot C, et al. Systematic neonatal screening for severe combined immunodeficiency and severe T-cell lymphopenia: analysis of cost-effectiveness based on French real field data. J Allergy Clin Immunol 2015;135:1589-1593.
43. Gaspar HB, Hammarström L, Mahlaoul N, et al. The case for mandatory newborn screening for severe combined immunodeficiency (SCID). J Clin Immunol 2014;34:393-397.