1. ¹Genetics Education and Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia
2. ²Murdoch Childrens Research Institute, Bruce Lefroy Centre for Genetic Health Research, Royal Children's Hospital, Parkville, Victoria, Australia
3. ³Public Health Genetics, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia
4. ⁴Department of Paediatrics, The University of Melbourne, Parkville, Victoria, Australia

Correspondence: Dr MA Aitken, Genetics Education and Health Research, Murdoch Childrens Research Institute, 10th Floor, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052, Australia. Tel: +61 3 8341 6209; Fax: +61 3 8341 6212; E-mail: maryanne.aitken@mcri.edu.au

Received 3 July 2007; Revised 12 October 2007; Accepted 30 October 2007; Published online 5 December 2007.

Abstract

Carrier screening for cystic fibrosis has been recommended for pregnant women and their partners, individuals and couples prior to conception, and for people with a family history. Many pilot programmes offering cystic fibrosis carrier screening, most commonly in the prenatal setting, have shown that uptake and acceptability are high. This article explores perspectives of the Victorian community regarding carrier screening for cystic fibrosis prior to offering screening. In particular whether or not such carrier screening should be offered, the best time for offering carrier screening, the information required for making a decision about carrier screening, and how this information can best be provided. A qualitative approach was taken to enable exploration of the views of stakeholders. Four focus groups and 32 interviews were conducted with a total of 68 participants. Participants were in agreement that cystic fibrosis carrier screening should be made available to everyone. However, potential consumers viewed cystic fibrosis carrier screening as 'not in my world' and were unlikely to request such screening unless it was offered by a health professional, or they had a family history. The best time for carrier screening was seen to be an individual preference and an information brochure was perceived to be useful when considering carrier screening. Lack of knowledge around the irrelevance of family history is a barrier to cystic fibrosis carrier screening. This study highlights the importance of community consultation, with stakeholders, prior to implementation of carrier screening programmes.