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Population-based genetic carrier screening for cystic fibrosis in Victoria


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.

Over the past 7 years, the program has screened 10 489 individuals with no family history of CF, with 320 (3.05%; 1 in 33) found to be CF carriers. Of these, 267 (83.4%) were carriers of the common mutation p.F508del. Fifteen carrier couples were identified (four couples with non-p.F508del…