Facilitators and barriers to expansion of newborn screening programs in the 21st century
Main Article Content
Abstract
Abstract
Background - Newborn screening programs have grown over the past 50 years to include screening for more than 40 metabolic and genetic disorders. Technology, or the ability to screen for disorders, is not the sole influence for expansion of screening. The lack of clarity in how facilitators and barriers impact newborn screening programs can affect the stakeholder’s perspective of public health department initiatives and future goals.
Method - We developed a logic model in order to help stakeholders establish reasonable expectations, while being aware of the delays and unanticipated consequences which might occur when attempting to expand newborn screening programs.
Results and Conclusions - Our logic model emphasizes that expansion of Newborn Screening relies on several interrelated factors that can be identified as Technical, Financial, Policy and Human Capital. Further delineating these factors into a series of checklists promises to be of value to decision-makers in state-operated newborn screening programs, given constrained resources and anticipated barriers.
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References
1. MMWR, “Using Tandem Mass Spectrometry for Metabolic Disease Screening Among Newborns: A Report of a Work Group”, April 13, 2001 / Vol. 50 / No. RR-3.
2. National Newborn Screening Resource Center (NNSRC), http://genes-r-s.uthscsa.edu
3. Chace DH. Mass Spectrometry in Newborn and Metabolic Screening: Historical Perspective and Future Directions. Journal of Mass Spectrometry, Vol. 44, 163-170, 2009.
4. Petros MP. Revisiting the Wilson-Jungner criteria: How can supplemental criteria guide public health in the era of genetic screening? Genetics in Medicine, 7-Oct-11, DOI: 10.1097/GIM.0b013e31823331d0 (e-published ahead of print).
5. Ross LF. Newborn screening for lysosomal storage diseases: an ethical and policy analysis. J Inherit Metab Dis. 2012 Jul;35(4):627-34. doi: 10.1007/s10545-011-9435-0. Epub 2011 Dec 22.
6. Ross LF, Saal HM, David KL, Anderson RR; American Academy of Pediatrics; American College of Medical Genetics and Genomics. Technical report: Ethical and policy issues in genetic testing and screening of children. Genetics in Medicine, 2013 Mar;15(3):234-45. doi: 10.1038/gim.2012.176. Epub 2013 Feb 21.
7. Levy HL. Newborn Screening by Tandem Mass Spectrometry: A New Era. Clinical Chemistry, 44, No. 12, 1998, 2401-2402
8. Chan K, Puck JM. Development of population-based newborn screening for severe combined immunodeficiency. Journal of Allergy and Clinical Immunology, 2005, 115(2), 391–398.
9. Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children. Committee Report. 2011 Annual Report to Congress.
10. Illinois Senate Bill 1566, signed into law November 2007, Revised 2011.
11. Missouri House Bill 716, signed into law July 2009.
12. New Mexico House Bill 201, signed into law March 2010.
13. Hasegawa LE, Fergus KA, Ojeda N, Au SM. Parental attitudes toward ethical and social issues surrounding the expansion of newborn screening using new technologies. Public Health Genomics. 2011;14(4-5):298-306. doi: 10.1159/000314644. Epub 2010 Jul 30.
14. http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/nominatecondition/workgroup.html
15. Hiller EH, Landenburger G, Natowicz MR. Public participation in medical policy-making and the status of consumer autonomy: the example of newborn-screening programs in the United States. Am J Public Health. 1997 Aug;87(8):1280-8.
16. Magee R A. Worthwhile Investment: Universal Newborn Screening. Albany Government Law Review, March 2, 2009.
17. Illinois Register, Newborn metabolic Screening and Treatment Code, 77 Ill. Adm. Code 661 (revised), effective January 2010.
18. Therrell BL, Williams D, Johnson K, Lloyd-Puryear MA, Mann MY, Ramos LR. Financing newborn screening: sources, issues, and future considerations. J Public Health Management & Practice 2007;13:207-13.
19. Johnson K, Lloyd-Puryear MA, Mann MY, Ramos LR, Therrell BL. Financing State Newborn Screening Programs: Sources and Uses of Funds. Pediatrics 2006; 117: 270-279.
20. Kemper AR, Green NS, Calogne N, et al. 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. Genetics in Medicine. Advance online publication 1 August 2013. doi:10.1038/gim.2013.98