Australia lags behind other countries in developing a national policy framework for newborn screening
Since the late 1960s, newborn bloodspot screening (NBS) programs have successfully integrated public health and clinical medicine to identify and treat rare disease early, preventing disability and death. The management of these programs is increasingly being challenged by opportunities offered by rapidly evolving technologies, and by different perspectives on the role of screening. For NBS programs to respond effectively and consistently, a national mechanism is required to define and monitor standards and guide the introduction of new tests and technologies. This mechanism exists (or is in development) in many countries, but not in Australia.
The full article is accessible to AMA members and paid subscribers. Login to read more or purchase a subscription now.
Please note: institutional and Research4Life access to the MJA is now provided through Wiley Online Library.
- 1. Australian Law Reform Commission. Essentially yours: the protection of human genetic information in Australia. ALRC Report 96. Canberra: ALRC, 2003. http://www.alrc.gov.au/publications/report-96 (accessed Jun 2013).
- 2. Bowman DM, Studdert DM. Newborn screening cards: a legal quagmire. Med J Aust 2011; 194: 319-322. <MJA full text>
- 3. Royal Australian College of Physicians, Human Genetics Society of Australasia. Newborn bloodspot testing. Policy. August 2011. http://hgsa.org.au/documents/item/29 (accessed Jul 2012).
- 4. Wilcken B, Wiley V, Hammond J, Carpenter K. Screening newborns for inborn errors of metabolism by tandem mass spectrometry. N Engl J Med 2003; 348: 2304-2312.
- 5. Burke W, Tarini B, Press NA, Evans JP. Genetic screening. Epidemiol Rev 2011; 33: 148-164.
- 6. Salveson R. Expansion of the New York State newborn screening panel and Krabbe disease: a systematic program evaluation [PhD thesis]. New York: Columbia University, 2011. http://academiccommons.columbia.edu/download/fedora_content/download/ac:132318/CONTENT/Salveson_columbia_0054D_10227.pdf (accessed Oct 2013).
- 7. Ross LF. Newborn screening for lysosomal storage diseases: an ethical and policy analysis. J Inherit Metab Dis 2012; 35: 627-634.
- 8. McNamara S. Lack of screening a “scandal”. MJA Insight 2011; 5 Sep. https://www.mja.com.au/insight/2011/33/lack-screening-scandal (accessed Jul 2013).
- 9. Warne GL, Armstrong KL, Faunce TA, et al. The case for newborn screening for congenital adrenal hyperplasia in Australia. Med J Aust 2010; 192: 107. <MJA full text>
- 10. Cornel M, Rigter T, Weinreich S, et al. Newborn screening in Europe. Expert opinion document. Evaluation of population newborn screening practices for rare disorders in member states of the European Union. 2012. http://ec.europa.eu/eahc/documents/news/Expert_opinion_document_on_NBS_20120108_FINAL.pdf (accessed Oct 2013).
- 11. US Department of Health and Human Services. Discretionary Advisory Committee on Heritable Disorders in Newborns and Children. http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders (accessed Oct 2013).
- 12. New Zealand Ministry of Health. Newborn metabolic screening: policy framework. Wellington: Ministry of Health, 2011. http://www.nsu.govt.nz/files/ANNB/Newborn_Metabolic_Screening_Programme_Policy_Framework_June_2011.pdf (accessed Jul 2013).
No relevant disclosures.