'It is not in my world': an exploration of attitudes and influences associated with cystic fibrosis carrier screening

• Published in: European journal of human genetics : EJHG Vol. 16; no. 4; pp. 435 - 444
• Main Authors: MCCLAREN, Belinda J, DELATYCKI, Martin B, COLLINS, Veronica, METCAIFE, Sylvia A, AITKEN, Maryanne
• Format: Journal Article
• Language: English
• Published: Avenel, NJ Nature Publishing 01.04.2008; Nature Publishing Group
• Subjects: Attitude to Health; Attitudes; Biological and medical sciences; Community support; Consumers; Cystic fibrosis; Cystic Fibrosis - diagnosis; Cystic Fibrosis - genetics; Decision making; Errors of metabolism; Exploration; Family Characteristics; Female; Fibrosis; Focus Groups; Fundamental and applied biological sciences. Psychology; General aspects. Genetic counseling; Genetic Carrier Screening; Genetic screening; Genetic Testing - psychology; Genetic Testing - utilization; Genetics; Genetics of eukaryotes. Biological and molecular evolution; Gynecology; Health Education; Humans; Interviews as Topic; Male; Maternal Age; Medical genetics; Medical personnel; Medical research; Medical sciences; Medical screening; Metabolic diseases; Miscellaneous hereditary metabolic disorders; Molecular and cellular biology; Newborn babies; Pregnancy; Professionals; Public health; Qualitative research; Research centers; Stakeholders; Victoria; Womens health; World; Netherlands; Victoria Australia; Australia; Wales; Respiratory disease; Attitude; attitudes; Metabolic diseases; Exploration; Cystic fibrosis; Medical screening; Genetic disease; Screening; genetic screening; Association; Genetic counseling; carrier screening; Digestive diseases; Genetics; Carrier; Pancreatic disease; population screening
• ISSN: 1018-4813; 1476-5438
• DOI: 10.1038/sj.ejhg.5201965

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.