Ethical and policy issues in newborn screening: Historical, current, and future developments

NeoReviews

Volumn 10, Issue 2, 2009, Pages 71-81

  Ross, Lainie Friedman ^a,b  

^a Departments of Pediatrics Medicine and Surgery ^*  (United States)

^b UNIVERSITY OF CHICAGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 77149158835     PISSN: None     EISSN: 15269906     Source Type: Journal    
DOI: 10.1542/neo.10-2-e71     Document Type: Article

References (31)

1. Guthrie R, Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics. 1963;32:338-343
2. Levy HL. Historical perspectives: newborn metabolic screening. NeoReviews. 2005;6:e57-e60
3. National Research Council, Committee for the Study of Inborn Errors of Metabolism. Genetic Screening: Programs, Principles, and Research. Washington DC: National Academy of Sciences; 1975
4. Wilson JM, Jungner G. Principles and practice of screening for disease. Public Health Papers, 34. Geneva, Switzerland: World Health Organization; 1968
5. American Academy of Pediatrics Committee on Bioethics. Ethical issues with genetic testing in pediatrics. Pediatrics. 2001;107: 1451-1455
6. American Academy of Pediatrics Newborn Screening Authoring Committee. Newborn screening expands: recommendations for pediatricians and medical homes-implications for the system. Pediatrics. 2008;121:192-217
7. American Academy of Pediatrics Newborn Screening Task Force. Serving the family from birth to the medical home. Newborn screening: a blueprint for the future. A call for a national agenda on state newborn screening programs. Pediatrics. 2000; 106(suppl):389-422
8. American College of Medical Genetics. Newborn screening: toward a uniform screening panel and system. Genet Med. 2006; 8(suppl):1S-252S
9. Andrews L, Fullarton J, Holtzman N, Motulsky G, eds., for the Institute of Medicine. Assessing Genetic Risks: Implications for Health and Social Policy. Washington, DC: National Academy Press; 1994
10. Botkin JR, Clayton EW, Fost NC, et al. Newborn screening technology: proceed with caution. Pediatrics. 2006;117: 1793-1799
11. Grosse SD, Boyle CA, Kenneson A, Khoury MJ, Wilfond BS. From public health emergency to public health service: the implications of evolving criteria for newborn screening panels. Pediatrics. 2006;117:923-929
12. Consensus Development Panel, National Institutes of Health. Newborn screening for sickle cell disease and other hemoglobinopathies. JAMA. 1987;258:1205-1209
13. Fost N, Kaback MM. Why do sickle cell screening in children? The trait is the issue. Pediatrics. 1973;51:742-743
14. Gaston MH, Verter JI, Woods G, et al. Prophylaxis with oral penicillin in children with sickle cell anemia. A randomized trial. N Engl J Med. 1986;314:1593-1599
15. Jones SR, Binder RA, Donowho EM Jr. Sudden death in sickle cell trait. N Engl J Med. 1970;282:323-325
16. Kark JA, Posey DM, Schumacher HR, Ruehle CJ. Sickle-cell trait as a risk factor for sudden death in physical training. N Engl J Med. 1987;317:781-787
17. Fost N, Farrell PM. A prospective randomized trial of early diagnosis and treatment of cystic fibrosis: a unique ethical dilemma. Clin Res. 1989;37:495-500
18. Grosse SD, Boyle CA, Botkin JR, et al, Centers for Disease Control and Prevention. Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs. MMWR Recomm Rep. 2004;53(RR-13):1-36
19. Ross LF. Newborn screening for cystic fibrosis: a lesson in public health disparities. J Pediatr. 2008;153:308-313
20. van den Akker-van Marle ME, Dankert HM, Verkerk PH, Dankert-Roelse JE. Cost-effectiveness of 4 neonatal screening strategies for cystic fibrosis. Pediatrics. 2006;118:896-905
21. Watson MS, Cutting GR, Desnick RJ, et al. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Gene Med. 2004;6:387-391
22. Wilfond BS, Gollust SE. Policy issues for expanding newborn screening programs: the cystic fibrosis newborn screening experience in the United States. J Pediatr. 2005;146:668-674
23. Minnesota newborn screening program. NICU Newborn Screening Provider Manual for Minnesota. 2006. Available at: http://www.health.state.mn.us/divs/fh/mcshn/pdfdocs/nbsnicuman.pdf. Accessed September 2008
24. Pandor A, Eastham J, Beverley C, Chilcott J, Paisley S. Clinical effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: a systematic review. Health Technol Assess. 2004;8:1-134
25. Ross LF. Screening for conditions that do not meet the Wilson and Jungner criteria: the case of Duchenne muscular dystrophy. Am J Med Genet. 2006;140A:914-922
26. Saul RA, Friez M, Eaves K, et al. Fragile X syndrome detection in newborns-pilot study. Genet Med. 2008;10:714-719
27. Strom CM, Huang D, Li Y, et al. Development of a novel, accurate, automated, rapid, high-throughput technique suitable for population-based carrier screening for fragile X syndrome. Genet Med. 2007;9:199-207
28. Tassone F, Pan R, Amiri K, Taylor AK, Hagerman PJ. A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations. J Molec Diagn. 2008;10: 43-49
29. Treiber M, Tomazic T, Tekauc-Golob A, et al. Ultrasound screening for developmental dysplasia of the hip in the newborn: a population-based study in the Maribor region, 1997-2005. Wien Klin Wochenschr. 2008;120:31-36
30. United States Preventive Services Task Force. Universal screening for hearing loss in newborns: United States Preventive Services Task Force recommendation statement. Pediatrics. 2008;122: 143-148
31. United States Preventive Service Task Force. Screening for developmental dysplasia of the hip: recommendation statement. Am Fam Physician. 2006;73:1992-1996