Expansion of newborn screening for inherited metabolic disorders – ethical questions
Authors:
V. Franková 1,2; F. Votava 3; V. Kožich 1
Authors place of work:
Ústav dědičných metabolických poruch, UK 1. lékařská fakulta a Všeobecná fakultní nemocnice, Prahapřednosta prof. MUDr. V. Kožich, CSc.
1; Ústav humanitních studií v lékařství, UK 1. lékařská fakulta, Prahapřednosta doc. ThDr. V. Ventura, ThD.
2; Klinika dětí a dorostu, UK 3. lékařská fakulta a FN Královské Vinohrady, Prahapřednosta doc. MUDr. F. Votava, Ph. D.
3
Published in the journal:
Čes-slov Pediat 2014; 69 (2): 87-94.
Category:
Original Papers
Summary
Newborn screening program in the Czech Republic includes 10 inherited metabolic disorders and its expansion is planned as a result of ongoing pilot study. Which disorders should be added and what criteria used for their selection are the key ethical questions closely connected with every screening panel expansion. Traditional screening criteria can function as guidelines even if their universal applicability has been questioned by new biotechnologies and scientific progress. Apart from the benefit from early diagnosis and effective treatment the newborn screening program also poses risks from false-positive and false-negative results as well as detection of conditions with no clinical significance. Before adding a new disorder to the screening panel it is necessary to evaluate the balance between health benefits and potential harms. Furthermore it is important to assess its cost-effectiveness also from the perspective of the whole healthcare system. All newborn screening programs need to evaluate these aspects regularly also for already established panel of diseases and search for new biotechnological solutions to minimize associated risks. Another essential task is to provide parents with all the necessary information in accessible form.
Key words:
newborn screening, inherited metabolic disorders, ethics
Zdroje
1. Wilson JM, Jungner YG. Principles and Practise of Screening for Disease. In: Public Health Papers. Geneva: World Health Organization, 1968: 163.
2. Pollitt RJ. Principles and performance: assessing the evidence. Acta Paediatr Suppl 1999; 88 (432): 110–114.
3. Therrell BL Jr. U.S. newborn screening policy dilemmas for the twenty-first century. Mol Genet Metab 2001; 74 (1-2): 64–74.
4. Wilcken B. Ethical issues in newborn screening and the impact of new technologies. Eur J Pediatr 2003; 162 (Suppl 1): S62–66.
5. Honzík T, Kožich V, Zeman J. Dědičné poruchy metabolismu. In: Kubáčková K, et al. Vzácná onemocnění v kostce. Praha: Mladá Fronta, 2014: 168–187.
6. Bombard Y, Miller FA, Hayeems RZ, et al. The expansion of newborn screening: is reproductive benefit an appropriate pursuit? Nat Rev Genet 2009; 10 (10): 666–667.
7. Detmar S, Dijkstra N, Nijsingh N, et al. Parental opinions about the expansion of the neonatal screening programme. Community Genet 2008; 11 (1): 11–17.
8. Plass AM, van El CG, Pieters T, et al. Neonatal screening for treatable and untreatable disorders: prospective parents‘ opinions. Pediatrics 2010; 125 (1): e99–106.
9. Tarini BA, Christakis DA, Welch HG. State newborn screening in the tandem mass spectrometry era: more tests, more false-positive results. Pediatrics 2006; 118 (2): 448–456.
10. Baily MA, Murray TH. Ethics, evidence, and cost in newborn screening. Hastings Cent Rep 2008; 38 (3): 23–31.
11. Ross LF. Screening for conditions that do not meet the Wilson and Jungner criteria: the case of Duchenne muscular dystrophy. Am J Med Genet A 2006; 140 (8): 914–922.
12. Waisbren SE, Albers S, Amato S, et al. Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. JAMA 2003; 290 (19): 2564–2572.
13. Gurian EA, Kinnamon DD, Henry JJ, et al. Expanded newborn screening for biochemical disorders: the effect of a false-positive result. Pediatrics 2006; 117 (6): 1915–1921.
14. Morrison DR, Clayton EW. False positive newborn screening results are not always benign. Public Health Genomics 2011; 14 (3): 173–177.
15. Tu WJ, He J, Chen H, et al. Psychological effects of false-positive results in expanded newborn screening in China. PLoS One 2012; 7 (4): e36235.
16. Lipstein EA, Perrin JM, Waisbren SE, et al. Impact of false-positive newborn metabolic screening results on early health care utilization. Genet Med 2009; 11 (10): 716–721.
17. Tarini BA, Clark SJ, Pilli S, et al. False-positive newborn screening result and future health care use in a state Medicaid cohort. Pediatrics 2011; 128 (4): 715–722.
18. Wilcken B. Expanded newborn screening: reducing harm, assessing benefit. J Inherit Metab Dis 2010; 33 (Suppl 2): S205–210.
19. Wilcken B, Wiley V, Hammond J, et al. Screening newborns for inborn errors of metabolism by tandem mass spectrometry. N Engl J Med 2003; 348 (23): 2304–2312.
20. Bannwart C, Wermuth B, Baumgartner R, et al. Isolated biotin-resistant deficiency of 3-methylcrotonyl-CoA carboxylase presenting as a clinically severe form in a newborn with fatal outcome. J Inherit Metab Dis 1992; 15 (6): 863–868.
21. Mourmans J, Bakkeren J, de Jong J, et al. Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology. J Inherit Metab Dis 1995; 18 (5): 643–645.
22. Stadler SC, Polanetz R, Maier EM, et al. Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment. Hum Mutat 2006; 27 (8): 748–759.
23. Araia MH, Wilson BJ, Chakraborty P, et al. Factors associated with knowledge of and satisfaction with newborn screening education: a survey of mothers. Genet Med 2012; 14 (12): 963–970.
Štítky
Neonatology Paediatrics General practitioner for children and adolescentsČlánok vyšiel v časopise
Czech-Slovak Pediatrics
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