Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency

Journal of Inherited Metabolic Disease

Volumn 33, Issue SUPPL. 2, 2010, Pages

  Comeau, Anne Marie ^a   Hale, Jaime E ^a   Pai, Sung Yun ^b,c   Bonilla, Francisco A ^b   Notarangelo, Luigi D ^b   Pasternack, Mark S ^d   Meissner, H Cody ^e   Cooper, Ellen Rae ^f   DeMaria, Alfred ^g   Sahai, Inderneel ^a   Eaton, Roger B ^a  

^a UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c DANA FARBER CANCER INSTITUTE   (United States)

^d MASSACHUSETTS GENERAL HOSPITAL   (United States)

^e TUFTS MEDICAL CENTER   (United States)

^f BOSTON MEDICAL CENTER   (United States)

^g MASSACHUSETTS DEPARTMENT OF PUBLIC HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ALGORITHM; ARTICLE; BLOOD; BLOOD SAMPLING; HEALTH CARE QUALITY; HUMAN; IMMUNOLOGY; LABORATORY DIAGNOSIS; METHODOLOGY; NEWBORN; NEWBORN SCREENING; PILOT STUDY; PRACTICE GUIDELINE; PREDICTIVE VALUE; PROGRAM DEVELOPMENT; REPRODUCIBILITY; SEVERE COMBINED IMMUNODEFICIENCY; T LYMPHOCYTE RECEPTOR GENE; UNITED STATES;

ALGORITHMS; BLOOD SPECIMEN COLLECTION; DNA; FALSE POSITIVE REACTIONS; GENES, T-CELL RECEPTOR; HUMANS; INFANT, NEWBORN; MASSACHUSETTS; NEONATAL SCREENING; PILOT PROJECTS; PRACTICE GUIDELINES AS TOPIC; PREDICTIVE VALUE OF TESTS; PROGRAM DEVELOPMENT; PROGRAM EVALUATION; QUALITY INDICATORS, HEALTH CARE; REPRODUCIBILITY OF RESULTS; SEVERE COMBINED IMMUNODEFICIENCY;

EID: 79952199261     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9103-9     Document Type: Article

References (31)

1. Atkinson K, Zuckerman B, Sharfstein J, Levin D, Blatt RJR, Koh H (2001) A public health response to emerging technology: expansion of the Massachusetts newborn screening program. Public Health Rep 116:122-131
2. Baker MW, Grossman WJ, Laessig RH et al. (2009) Development of a routine newborn screening protocol for severe combined immunodeficiency. J Allergy Clin Immunol 124(3):522-527
3. Barrett MJ, Buckley RH, Schiff SE, Kidd PC, Ward PE (1988) Accelerated development of immunity following transplantation of maternal marrow stem cells into infants with severe combined immunodeficiency and transplacentally acquired lymphoid chimerism. Clin Exp Immunol 72(1):118-123
4. Buckley RH (2000) Primary immunodeficiency diseases due to defects in lymphocytes. N Engl J Med 343:1313-1324
5. Buckley RH (2004) Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. Annu Rev Immunol 22:625-655
6. Buckley RH, Schiff RI, Schiff SE et al. (1997) Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. J Pediatr 130(3):378-387
7. Buckley R, Schiff SE, Schiff RI et al. (1999) Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency. N Engl J Med 340(7):508-516
8. Centers for Disease Control and Prevention (2001) CDC National Workshop: Applying Genetic and Public Health Strategies to Primary Immunodeficiency Diseases, Atlanta, GA
9. Centers for Disease Control and Prevention (2004) Applying public health strategies to primary immunodeficiency diseases: a potential approach to genetic disorders. MMWR Morb Mortal Wkly Rep 53(No. RR-1):1-29
10. Centers for Disease Control and Prevention (2010) Childhood Immunization Schedules for birth to 6 years old. Accessed January 20, 2010 〈http://www.cdc.gov/vaccines/recs/schedules/downloads/child/2010/ 10-0-6yrs-schedule-pr.pdf〉
11. Chan K, Puck JM (2005) Development of population-based newborn screening for severe combined immunodeficiency. J Allergy Clin Immunol 115(2):391-398
12. Code of Massachusetts Regulations (2008): 105 CMR 270.000 Sections 270.001-011; Blood Screening of Newborns for Treatable Diseases and Disorders
13. Comeau AM (2007) Newborn Screening Expansion: Massachusetts Research Models Encompass Public Health Service Responsibility. In: Knoppers MB (ed) Genomics and Public Health: Socio-Ethical and Legal Perspectives. Martinus Nijhoff International, Leiden, pp 45-53
14. Comeau AM (2008a) Implementing SCID Newborn Screening with Multiplex Assays in an Integrated Program Approach. Centers for Disease Control and Prevention Grant # IUIEH000362
15. Comeau AM (2008b) Development and Validation of a Multiplex Assay for Identification of Infants with SCID. The 2008 APHL Newborn Screening and Genetic Testing Symposium, San Antonio, TX. Accessed January 20, 2010 http://www.aphl.org/profdev/conferences/proceedings/Documents/ 2008%20-APHL-NBS-and-Genetics-Testing-Symposium/054%20-%20Comeau%2010.pdf
16. Comeau AM, Levin D (2009) Population-based research within a public health system: two models for common rule compliance in the Massachusetts Newborn Screening Program. In: Bailey M, Murray T (eds) Ethics and newborn genetics screening: New technologies, new challenges. Johns Hopkins Press, Baltimore, pp 274-291
17. Douek DC, McFarland RD, Keiser PH et al. (1998) Changes in thymic function with age and during the treatment of HIV infection. Nature 396:690-695
18. Geha RS, Notarangelo LD, Cassanova JL et al. (2007) Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol 120 (4):776-794
19. Health Resources and Services Administration, Centers for Disease Control and Prevention (2007) National Newborn Screening SCID Working group, San Francisco, CA
20. Howell RR (2008 January) Minutes, Thirteenth Meeting of the Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children. Accessed December 21, 2009 http://www.hrsa.gov/heritabledisorderscommittee/ meetings/2008january/minutes0108.htm
21. Howell RR (2009 February) Minutes, Seventeenth Meeting of the Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children. Accessed December 21, 2009 http://www.hrsa.gov/heritabledisorderscommittee/ meetings/2009february/default.htm
22. Howell RR (2010 February) Correspondence. Twentieth Meeting of the Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children. Accessed March 26, 2010 http://www.hrsa.gov/ heritabledisorderscommittee/meetings/default.htm
23. Jeffery Modell Foundation, Centers for Disease Control and Prevention, National Newborn Screening and Genetic Resource Center (2006) National Workshop on Newborn Screening for SCID. Atlanta, GA
24. Lipstein E, Knapp AA, Perrin JM (2009) Evidence Review: Severe Combined Immunodeficiency (SCID). Prepared for Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children. Retrieved from http://www.hrsa.gov/heritabledisorderscommittee/reports/evidencereviewSCID/ default.htm. Accessed December 21, 2009
25. Muller SM, Ege M, Pottharst A, Schultz AS, Schwartz K, Friedrich W (2001) Transplacentally acquired maternal T lymphocytes in severe combined immunodeficiency: a study of 121 patients. Blood 98(6):1847-1851
26. Myers LA, Patel DD, Puck JM, Buckley RH (2002) Hematopoietic stem cell transplantation for severe 7combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival. Blood 99(3):872-878
27. National Institute of Health (2002) NIH National Workshop to Develop Newborn Screening Technology for SCID, Bethesda, MD
28. Qiao H, Clark HF, DiVietro M, Riepenhoff-Talty M (2004) A comparison of the effects of oral inoculation with Rotashield and pentavalent reassortant rotavirus vaccine (WC3-PV) on suckling CB17scid mice. J Gen Virol 85:2245-2253
29. Tuerck J, Dhondt JL, King P et al. (2006) Newborn screening follow up: approved guideline. CLSI document I/LA27-A [ISBN 1-56238-606-9]
30. Watson MS, Mann, MY, Lloyd-Puryear, Rinaldo, P (2006) Newborn screening: toward a uniform screening panel and system. Genet Med Suppl 1:1S-252S
31. Wilson IG (1997) Inhibition and facilitation of nucleic acid amplification. Appl Environ Microbiol 63(10):3741-3751