Newborn blood-spot screening to detect potentially treatable disorders is widely practiced across the globe. However, there are great variations in practice, both in terms of disorders covered, screening technologies, disease definition, information provision, parental informed consent, and storage and disposal of residual specimens, partly reflecting the degree to which screening is the subject of explicit legislation (and thus public and media pressure) or is embedded in a general health care system and managed at an executive level. It is generally accepted that disorders to be screened for should comply with the ten Wilson and Jungner criteria, but the way that compliance is assessed ranges from broadly-based opinion surveys to detailed analysis of quantitative data. Consequently, even countries with comparable levels of economic development and health care show large differences in the number of disorders screened for. There are several areas on which there are no generally accepted guidelines: how should parents be informed about screening and to what extent should they be encouraged to regard screening as an option to choose to refuse? Is DNA mutation analysis acceptable as part of a screening protocol? How soon should the blood samples be destroyed once screening has been completed? As technology advances and the potential scope of screening expands at both the metabolite and genome level, challenging policy issues will have to be faced.
If the inline PDF is not rendering correctly, you can download the PDF file here.
1. Save Babies Through Screening Foundation. www.savebabies.org (accessed 10th March 2014).
2. Loeber JG Burgard P Cornel MC Rigter T Weinreich SS Rupp K et al. Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1 - From bloodspot to screening result. J Inherit Metab Dis 2012; 35: 603-11.
3. Wilson JMG Junger G. Principles and practice of screening for disease. Geneva: World Health Organi - sation; Public Health Papers 34 (1968).
4. UK National Screening Committee. Criteria for appraising the viability effectiveness and appropriateness of a screening programme. http://www.screening.nhs.uk /criteria (accessed 14th March 2014)
5. Oerton J Khalid JM Besley G Dalton RN Downing M Green A et al. Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence predictive value and test validity based on 1.5 million screened babies. J Med Screen 2011; 18: 173-81.
6. American College of Medical Genetics. Newborn screen ing: towards a uniform screening panel and system. Genetics in Medicine 2006; 8: 5 Supplement.
7. Howell RR Lloyd-Puryer MA. Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children. Semin Perinatol 2010; 34: 121-4.
8. Therrell BL Hannon WH Bailey DB Jr Goldman EB Nor gaard-Pedersen B et al. Consideration and recom - mendations for national guidance regarding the retention and use of residual blood spot specimens after newborn screening. Genet Med 2011; 13: 621-4.
9. Polnay JC Davidge A Chin Lyn U Smyth AR. Parental attitudes: antenatal diagnosis of cystic fibrosis. Arch Dis Child 2002; 87: 84-6.
10. Scotet V Audrézet MP Rousser M Rault G Blayau M De Braekeleer M Férec C. Impact of public health strategies on the birth prevalence of cystic fibrosis in Brittany France. Hum Genet 2003; 113: 280-5.
11. Brookfield JF Pollitt RJ Young ID. Family size limitation: a method for demonstrating recessive inheritance. J Med Genet 1988; 25: 181-5.
12. Martina C Cornel MC Gille JJP Loeber JG Vernooijvan Langen AMM Jeannette Dankert-Roelse J Bolhuis PA. Improving test properties for neonatal cystic fibrosis screening in the Netherlands before the nationwide start by May 1st 2011. J Inherit Metab Dis 2012; 35: 635-40.
13. Sommerburg O Lindner M Muckenthaler M Kohl - mueller D Leible S Feneberg R et al. Initial evaluation of a biochemical cystic fibrosis newborn screening by sequential analysis of immunoreactive trypsinogen and pancreatitis-associated protein (IRT/PAP) as a strategy that does not involve DNA testing in a Northern European population. J Inherit Metab Dis 2010; Suppl 2: S263-71.
14. National Institutes of Health: News release: NIH program explores the use of genomic sequencing in newborn healthcare. http://www.nichd.nih.gov/news/releases/Pages/090413-newborn-sequencing.aspx (accessed 14th March 2014)
15. Turner C Daniel Y Dalton RN. Newborn screening for sickle cell disease though use of tandem mass spectrometry. Clinical Chemistry 2009; 55: 1243-4.
16. Pollitt RJ. Commentary: What degree of hyperphenyl - alaninaemia requires treatment? J Inherit Metab Dis 2012; 35: 927-30.
17. Newborn Screening Centre. Screening stories - a PKU story (shortened). http://newbornbloodspot.screening.nhs.uk/cms.php?folder=2701 (accessed 20th March 2014)
18. Supreme Court of Ireland. North Western Health Board -v- H.W. & C.W.. 11.08.2001. www.supremecourt.ie/Judgments.nsf (accessesd 20th March 2014)