Population-based genetic carrier screening for cystic fibrosis in Victoria

Alison D Archibald, John Massie, Melanie J Smith, Deborah G Dalton, Desirée du Sart and David J Amor
Med J Aust 2014; 200 (4): . || doi: 10.5694/mja13.10864
Published online: 3 March 2014

To the Editor: Cystic fibrosis (CF) is the most common inherited life-shortening condition affecting Australian children, with a carrier frequency of 1 in 25. Most children with CF (94%) have no family history of the condition.1 The Human Genetics Society of Australasia recommends that couples planning or in the early stages of pregnancy be made aware of the availability of CF carrier screening.2 In Victoria, since 2006, CF carrier screening has been available to individuals and couples as a fee-for-service program.3 The program initially screened for 12 mutations (2006–2012) and now screens for 38 mutations (2012–2013) at a cost of $150 per patient. The program was established through collaboration between Victorian Clinical Genetics Services, the CF clinic at the Royal Children’s Hospital in Melbourne, obstetricians and Cystic Fibrosis Victoria.

  • 1 Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Melbourne, VIC.
  • 2 Royal Children’s Hospital, Melbourne, VIC.



This work was supported by the Victorian Government Operational Infrastructure Support Program.

Competing interests:

No relevant disclosures.

  • 1. McClaren BJ, Metcalfe SA, Amor DJ, et al. A case for cystic fibrosis carrier testing in the general population. Med J Aust 2011; 194: 208-209. <MJA full text>
  • 2. Human Genetics Society of Australasia. Population based carrier screening for cystic fibrosis. Position statement. Oct 2013. (accessed Jan 2014).
  • 3. Massie J, Petrou V, Forbes R, et al. Population-based carrier screening for cystic fibrosis in Victoria: the first three years experience. Aust N Z J Obstet Gynaecol 2009; 49: 484-489.
  • 4. Ioannou L, Massie J, Lewis S, et al. ‘No thanks’ — reasons why pregnant women declined an offer of cystic fibrosis carrier screening. J Community Genet 2013; 29 May [Epub ahead of print].


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