Psychological impact of population-based carrier testing for cystic fibrosis: 3-year follow-up

• Published in: The Lancet (British edition) 1996-05, Vol.347 (9013), p.1443-1446
• Main Authors: UK Cystic Fibrosis Follow-up Study, Axworthy, D., Marteau, T.M., Brock, D.J.H., Bobrow, M.
• Format: Article
• Language: English
• Subjects: Biological and medical sciences; Cystic fibrosis; Errors of metabolism; Medical research; Medical sciences; Medical screening; Metabolic diseases; Miscellaneous hereditary metabolic disorders; Psychology; Retention; Social psychology
• ISSN: 0140-6736; 1474-547X
• DOI: 10.1016/S0140-6736(96)91683-9

Summary Background The objective of this study was to show the long-term psychological effects of population-based screening for cystic fibrosis. Methods The sample comprised all carriers (n=435) and, for each carrier, two matched screen-negative individuals (n=870) detected during screening programmes for cystic fibrosis in the general population and in antenatal populations carried out a median of 3 years earlier in six UK centres. Questionnaires were sent to all eligible participants, with reminders sent to non-responders. The main endpoints were understanding of test results, degree of anxiety, perceptions of health, and reproductive intentions, and behaviour. Findings 746 (62%) of 1201 questionnaires were returned. Recall of the meaning of test results was accurate in 225 (80%) of 280 carriers but only 200 (43%) of 466 screen-negative individuals. 46 (16%) of 280 proven carriers believed that their result meant that they were only likely, rather than definitely, to be a carrier; 232 (50%) of 466 of those with a screen-negative result erroneously believed that the result meant that they were definitely not carriers. There was no significant difference between carriers and screen-negative individuals in degree of general anxiety, although 16% of carriers reported feeling worried about their test results. Carriers had a poorer perception of their current health than did non-carriers, even though they had been told that carrier status confers no disadvantages to their own health. There were no differences between carriers and screen-negative individuals in reproductive intentions or behaviour. Interpretation We have shown that in the long-term, retention of the meaning of test results from cystic fibrosis screening is poor. Further research is needed to improve the performance of test-related counselling programmes to ensure that the main objectives of these programmes, to provide information on carrier status and to allow informed reproductive decisions, are met.