Screening criteria: The need to deal with new developments and ethical issues in newborn metabolic screening

Journal of Community Genetics

Volumn 4, Issue 1, 2013, Pages 59-67

  Forman, John ^a   Coyle, Fiona ^a   Levy Fisch, Jill ^b   Roberts, Pat ^c   Terry, Sharon ^d   Legge, Michael ^e  

^a Wellington Mail Centre   (New Zealand)

^b Save Babies Through Screening Foundation   (United States)

^c Save Babies Through Screening Foundation   (United Kingdom)

^d GENETIC ALLIANCE   (United States)

^e UNIVERSITY OF OTAGO   (New Zealand)

Author keywords

Decision criteria; Family interests; Newborn metabolic screening

Indexed keywords

ARTICLE; CONSENSUS DEVELOPMENT; CULTURAL FACTOR; FAMILY ATTITUDE; FAMILY DECISION MAKING; GOVERNMENT; HEALTH CARE PERSONNEL; HUMAN; MEDICAL ETHICS; METABOLIC DISORDER; NEWBORN; NEWBORN SCREENING; PARENTAL ATTITUDE; PATIENT RIGHT; PRACTICE GUIDELINE; PRIORITY JOURNAL;

EID: 84872389175     PISSN: 1868310X     EISSN: 18686001     Source Type: Journal    
DOI: 10.1007/s12687-012-0118-9     Document Type: Article

References (65)

1. Access to Medicines Coalition (2007) Submission on the MoH consultation document: towards a New Zealand medicines strategy. Accessed online October 2011 at: http://www.nzordgroups.org.nz/cms/imagelibrary/10042.pdf
2. Alexander D, van Dyck P (2006) A vision of the future of newborn screening. Pediatrics 117:350-354
3. Andermann A, Blancquaert I, Beauchamp S, Déry V (2008) Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years. Bull World Health Organ 86:241-320
4. Avard D, Vallance H, Greenberg C, Potter B (2007) Newborn screening by tandem mass spectrometry - ethical and social issues. Can J Public Health 98:284-286
5. Bailey M, Murray T (2008) Ethics, evidence, and cost in newborn screening. Hast Cent Rep 38:23-31
6. Bailey DB, Skinner D, Warren SF (2005) Newborn screening for developmental disabilities: reframing presumptive benefit. Am J Public Health 95:1889-1893
7. Beauchamp T, Childress J (2001) Principles of biomedical ethics, 5th edn. Oxford University Press, Oxford
8. Benson JM, Therrell BL Jr (2010) History and current status of newborn screening for hemoglobinopathies. Semin Perinatol 34(2):134-144
9. Bernheim R, Nieburg P, Bonnie R (2007) Ethics and the practice of public health. In: Goodman R et al. (eds) Legal basis for public health practice, 2nd ed. Oxford University Press, Oxford, pp 110-135
10. Botkin J, Clayton E, Fost N, Burke W, Murray T, Baily M, Wilfond B, Berg A, Ross L (2006) Newborn screening technology: proceed with caution. Pediatrics 117:1793-1799
11. Burchbinder M, Timmermans S (2011) Newborn screening and maternal diagnosis: rethinking family benefit. Soc Sci Med 73:1014-1018
12. Bush A, Gotz M (2006) Chapter 15: cystic fibrosis. In: Frey U, Gerritsen J (eds) Respiratory diseases in infants and children. European Respiratory Society Monograph, vol. 37. European Respiratory Society, Lausanne, pp 234-290
13. Cassol S, Butcher A, Kinard S, Spadoro J, Sy T, Lapointe N, Read S, Gomez P, Fauvel M, Major C (1994) Rapid screening for early detection of mother-to-child transmission of human immunodeficiency virus type 1. J Clin Microbiol 32:2641-2645
14. Clague A, Thomas A (2002) Neonatal biochemical screening for disease. Clin Chim Acta 315(1-2):99-110
15. Cochrane AL, Holland WW (1971) Validation of screening procedures. Br Med Bull 27:35-38
16. Coffee B, Keith K, Albizua I, Malone T, Mowrey J, Sherman SL, Warren ST (2009) Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. Am J Hum Genet 85:503-504
17. Crossley JR, Elliott RB, Smith PA (1979) Dried-blood spot screening for cystic fibrosis in the newborn. Lancet 3:472-474
18. Ehrlich RM, McKendry JBJ (1973) Screening for congenital hypothyroidism in the newborn. Lancet 301:1121
19. European Commission Position Statement on Rare Diseases and Orphan Drugs (2010) EC regulation on orphan medicinal products. Downloaded December 2010 from: http://ec.europa.eu/health/rare-diseases/policy/index-en.htm
20. Fisher DA (1991) Screening for congenital hypothyroidism. Trends Endocrinol Metab 2:129-133
21. Frank F, Fitzgerald R, Legge M (2007) Phenylketonuria - the lived experience. N Z Med J 120: http://www.nzma.org.nz/journal/120-1262/2728/. Accessed 17 Apr 2012
22. Garg U, Dasouki M (2006) Expanded newborn screening of inherited metabolic disorders by tandem mass spectrometry: clinical and laboratory aspects. Clin Biochem 39:315-332
23. Green NS, Dolan SM, Murray TH (2006) Human genes and human rights: newborn screening: complexities in universal genetic testing. Am J Public Health 96:1955-1959
24. Grosse S, Boyle C, Kenneson A, Khoury M, Wilfond B (2006) From public health emergency to public health service: the implications of evolving criteria for newborn screening panels. Pediatrics 117:923-929
25. Gurian EA, Kinnamon DD, Henry JJ, Waisbren SE (2006) Expanded newborn screening for biochemical disorders: the effect of a false-positive results. Pediatrics 117:1915-1921
26. Guthrie R, Susi A (1963) A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 32:338-343
27. Hansen H (1975) Prevention of mental retardation due to PKU: selected aspects of program validity. Prev Med 4:310-321
28. Health and Disability Commissioner. A Report by the Health and Disability Commissioner. Opinion on Case 04HDC14171, 1 June 2005, Accessed online October 2011 http://www.hdc.org.nz/decisions - case-notes/commissioner's-decisions/2005/ 04hdc14171
29. Hewlett J, Waisbren SE (2006) A review of the psychosocial effects of false-positive results on parents and current communication practices in newborn screening. J Inherit Metab Dis 29:677-682
30. Hill RE (1993) The diagnosis of inborn errors of metabolism by examination of the genotype. Clin Chim Acta 217:3-14
31. Howell R (2006) We need expanded newborn screening. Pediatrics 117:1800-1805
32. Human Genetics Society of Australasia (2011) Newborn bloodspot screening. Joint policy statement of HGSA-RACP, August 2011. Accessed online January 2012 at https://www.hgsa.org.au/website/wp-content/uploads/2011/08/2011P02-Newborn- Bloodspot-Screening1.pdf
33. Jones PM, Bennett MJ (2002) The changing face of newborn screening: diagnosis of inborn errors of metabolism by tandem mass spectrometry. Clin Chim Acta 324:121-128
34. Li Y, Scott CR, Chamoles NA, Ghavami A et al (2004) Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening. Clin Chem 50:1785-1796
35. Lin B, Fleischman A (2008) Another voice - screening and caring for children with rare disorders. Hast Cent Rep 38:3
36. Meikle PJ, Grasby DJ, Dean DL (2006) Newborn screening for lysosomal storage disorders. Mol Genet Metab 88:307-314
37. Moyer V, Calonge N, Teutsch S, Botkin J (2008) Expanding newborn screening: process, policy, and priorities. Hast Cent Rep 38:32-39
38. National Health Committee (2003) Screening to improve Health in New Zealand: criteria to assess screening programmes. National Health Committee, Wellington
39. National Testing Centre (2010) Newborn baby metabolic screening programme. Annual Report Unpublished Report. p. 51
40. New Zealand Ministry of Health (2007) Antenatal Down syndrome screening in New Zealand. New Zealand Ministry of Health, Wellington
41. Padilla CD, Krotoski D, Therrell BL Jr (2010) Newborn screening progress in developing countries - overcoming internal barriers. Semin Perinatol 34:145-155
42. Parsons EP, Bradley DM (2008) Newborn screening programmes. In: LS John (ed) http://www.els.net. doi: 10.1002/9780470015902.a0005637.pub2
43. Pass KA, Lane PA, Fernhoff PM, Hinton CF, Panny SR, Parks JS, Pelias MZ, Rhead WJ, Ross SI, Wethers DL, Elsas LJ (2000) US newborn screening system guidelines II: follow-up of children, diagnosis, management, and evaluation. Statement of the Council of regional Networks for Genetic Services (CORN). J Pediatr 137(Suppl):S1-S46
44. Pollitt RJ (2006) International perspectives on newborn screening. J Inherit Metab Dis 29:390-396
45. Pollitt RJ (2007) Introducing new screens: why are we all doing different things. J Inherit Metab Dis 30:423-429
46. Puck JM (2007) Neonatal screening for severe combined immune deficiency. Curr Opin Allergy Clin Immunol 7:522-527
47. Quinn PO, Renfield M, Burg C, Rapoport JL (1977) Minor physical anomalies. A newborn screening and 1-year follow-up. J Am Acad Psychoanal 16:662-669
48. Ramsey BW (1996) Management of pulmonary disease in patients with cystic fibrosis. N Engl J Med 335:179-188
49. Rawls J (1971) A theory of justice. Harvard University Press, Harvard
50. Rawls J (2001) Justice as fairness: a restatement. Harvard University Press, Harvard
51. Röschinger W, Olgemöller B, Fingerhut R et al (2003) Advances in analytical mass spectrometry to improve screening for inherited metabolic disorders. Eur J Pediatr 162:S67-S76
52. Seymour CA, Thomason MJ, Chalmers RA et al (1997) Newborn screening for inborn errors of metabolism: a systematic review. Health Technol Assess 1:1-95
53. Sharrard M, Pollitt R (2007) Metabolic screening in children: newborn screening for metabolic diseases past, present and future. Paediatr Child Health 17:273-278
54. Streetly A, Dick M (2005) Screening for haemoglobinopathies. Curr Paediatr 15:32-39
55. Taranger J, Berglund G, Claesson I, Victorin L (1973) Screening for congenital hypothyroidism in the newborn. Lancet 301:487
56. Tarini B (2007) The current revolution in newborn screening. Arch Pediatr Adolesc Med 161:767-772
57. Tuuminen T, Kapyaho K, Rakkolainen A, Weber T (1994) Analytical quality control in neonatal screening. Clin Biochem 27:429-434
58. Van Ommen GJ, Scheuerbrandt G (1993) Neonatal screening for muscular dystrophy. Consensus recommendation of the 14th workshop sponsored by the European Neuromuscular Center (ENMC). Neuromuscul Disord 3:231-239
59. Walter JH (1998) Neonatal screening for PKU and other metabolic disorders. Semin Neonatol 3:17-25
60. Watson MS, Lloyd-Puryear MA, Mann MY et al (2006) Main report. Genet Med 8:12S-252S
61. White KR, Vohr BR, Maxon AB et al (1994) Screening all newborns for hearing loss using transient evoked otoacoustic emissions. Int J Pediatr Otorhinolaryngol 29:203-217
62. Wilcken B (2012) Screening for disease in the newborn: the evidence base for blood spot screening. Pathology 44:73-79
63. Wilson JMG, Jungner JJ (1968) Principles and practice of screening for disease. Public Health Paper 34. World Health Organization, Geneva
64. Yoon H-R, Lee KR, Kang S et al (2005) Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a 3-year report. Clin Chim Acta 354:167-180
65. Yoshinaga-Itano C (2004) Levels of evidence: universal newborn hearing screening (UNHS) and early hearing detection and intervention systems (EHDI). J Commun Dis 37:451-465