Population-based genetic screening for cystic fibrosis: attitudes and outcomes.
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.
Ioannou
L
L
Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Vic., Australia.
Massie
J
J
Collins
V
V
McClaren
B
B
Delatycki
M B
MB
D000328:Adult; D001315:Australia / Q000453:epidemiology; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D005820:Genetic Testing; D007722:Health Knowledge, Attitudes, Practice; D006801:Humans; D008297:Male; D016742:Preconception Care; D011247:Pregnancy; D011379:Prognosis; D014739:Victoria / Q000453:epidemiology
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator