Genomics in general practice

Newborn screening

Genomics in general practice
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  1. Summary of genetic testing
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Last revised: 30 Nov 2018

Practice point

Screening is available to all newborns in Australia free of charge, and almost all babies are screened. There are some babies who may be lost to follow up or their parents may refuse consent for screening. Exact numbers in Australia are not available. Depending on the condition, not all affected babies will be identified (eg only the most common variants causing cystic fibrosis [CF] are included in the screening test). Therefore, any suggestive symptoms in a child warrant further investigation by the general practitioner (GP).

Depending on the program, GPs may or may not be notified of a positive screening result. Follow-up is usually handled by the screening program.
 

Screening can identify a number of rare but serious medical conditions, where early detection and intervention can save lives or provide other benefits to the newborn.

Traditionally, conditions included in the program are based on the ability of clinicians to intervene early to avoid death, disability or other harm. With the advancement of genetic technology, there is some interest in expanding newborn screening panels to include a wider range of conditions.1–3

Newborn screening is optional in Australia,1 and research suggests participation is very high.4 Screening occurs two to  three days after birth, and is usually arranged by midwives. In general, parents are not contacted when screening results are normal.

About 1–2% of babies tested require repeat or subsequent diagnostic testing. Screening programs in each state and territory are usually responsible for following up cases that require further testing. About one per 1000 (0.1%) babies tested will be diagnosed with a condition because of newborn screening.

Refer to Table 1 for a list of conditions currently included in newborn screening programs in Australasia.

Table 1. Conditions screened in newborn screening programs in Australasia

Table 1

Conditions screened in newborn screening programs in Australasia1,3

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In addition to the implications for a child diagnosed with an inherited condition, there are also implications for future pregnancies in the family (ie carrier parents, siblings of the carrier parents). Information about carrier screening should be offered.

  1. Human Genetics Society of Australasia. Policy: Newborn bloodspot testing. Sydney: HGSA, 2011 [Accessed 8 January 2018].
  2. Howard HC, Knoppers BM, Cornel MC, et al. Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes. Eur J Hum Genet 2015;23(12):1593–600. [Accessed 8 January 2018].
  3. Wilcken B, Wiley V. Newborn screening. Pathology 2008;40(2):104–15. [Accessed 8 January 2018].
  4. Jacques AM, Collins VR, Pitt J, Halliday JL. Coverage of the Victorian newborn screening programme in 2003: A retrospective population study. J Paed Child Health 2008;44(9):498–503. [Accessed 8 January 2018].
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