Cystic fibrosis carrier screening in two New South Wales country towns.
OBJECTIVE
To assess the feasibility of offering community testing for carrier status of delta F508, a gene mutation associated with cystic fibrosis (CF).


METHODS
Prospective pilot survey.


METHODS
General practice, the two main high schools and workplaces in the country towns of Young and Harden (combined population, 14,940; with 7707 people aged 16-55 years) in New South Wales (NSW).


METHODS
Individuals aged 16 years and over.


METHODS
Number of delta F508 carriers, test uptake rates, mode of learning about the testing, motivation for testing, retention of knowledge about CF, and test results and emotional effects of knowledge about carrier status.


RESULTS
We tested 610 people (8% of the population aged 16-55 years) and identified 47 carriers (20% of the expected number in the 7707 people aged 16-55 years). Testing in schools had the highest uptake. Retention of knowledge was high; all delta F508-positive individuals recalled their carrier status accurately. Anxiety was transient among carriers; over 90% of all respondents felt they had made the right decision to be tested.


CONCLUSIONS
We recommend community testing for carrier detection and suggest targeting those with a family history of CF and girls aged over 16 in high schools.
Wake
S A
SA
Fragile X Programme, Prince of Wales Children's Hospital, Sydney, NSW.
Rogers
C J
CJ
Colley
P W
PW
Hieatt
E A
EA
Jenner
C F
CF
Turner
G M
GM
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000453:epidemiology / Q000517:prevention & control* / Q000523:psychology; D005260:Female; D005820:Genetic Testing / Q000523:psychology; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009042:Motivation; D009517:New South Wales / Q000453:epidemiology; D010865:Pilot Projects; D011446:Prospective Studies; D012737:Sex Factors; D011795:Surveys and Questionnaires