Population-based genetic screening for cystic fibrosis: attitudes and outcomes

Public Health Genomics. 2010;13(7-8):449-56. doi: 10.1159/000276544. Epub 2010 Jan 14.


A population-based cystic fibrosis (CF) carrier screening program was introduced in Victoria, Australia in 2006, and was offered to couples planning a pregnancy or in early pregnancy for a fee. Individuals received pre-test advice from their doctor and through a brochure. Carriers identified received genetic counseling. The aim of this study was to assess the attitudes of people undertaking screening. Between January 2006 and June 2008 all carriers (n = 79) and a randomly selected cohort of non-carriers (n = 162) were invited to participate. A purpose-designed questionnaire explored the following domains: knowledge, recollection and meaning of carrier status, reasons for having screening, anxiety and communication of results to family members. Forty-seven carriers (62%) and 65 non-carriers (41%) returned the questionnaire. Most participants were female (97%) aged 35-39 (46%). The main reasons for choosing screening were the perception of CF as a severe condition and a doctor's recommendation. All carriers correctly recalled their carrier status and the risk of having a child with CF, while 3 non-carriers (4.7%) were unsure of their carrier status and 12 (22%) incorrectly recalled their residual risk. Carriers answered the knowledge questions correctly more often than non-carriers. There was no difference in anxiety between carriers and non-carriers. The majority of carriers informed relatives of their increased risk of being a carrier. We conclude that participants' attitude towards carrier screening for CF was generally very positive. Our model of screening could be applied on a larger scale.

Publication types

  • Comparative Study
  • Randomized Controlled Trial

MeSH terms

  • Adult
  • Australia / epidemiology
  • Cystic Fibrosis / diagnosis*
  • Cystic Fibrosis / epidemiology
  • Cystic Fibrosis / genetics
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Female
  • Genetic Carrier Screening*
  • Genetic Counseling
  • Genetic Testing*
  • Health Knowledge, Attitudes, Practice*
  • Humans
  • Male
  • Preconception Care
  • Pregnancy
  • Prognosis
  • Victoria / epidemiology


  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator