Psychological impact of population-based carrier testing for cystic fibrosis: 3-year follow-up. UK Cystic Fibrosis Follow-Up Study Group

Lancet. 1996 May 25;347(9013):1443-6. doi: 10.1016/s0140-6736(96)91683-9.


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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Anxiety / etiology
  • Attitude to Health
  • Case-Control Studies
  • Cognition
  • Comprehension*
  • Cystic Fibrosis / genetics
  • Cystic Fibrosis / prevention & control*
  • Cystic Fibrosis / psychology*
  • Female
  • Follow-Up Studies
  • Genetic Carrier Screening*
  • Genetic Counseling
  • Genetic Testing / methods
  • Genetic Testing / psychology*
  • Health
  • Humans
  • Male
  • Memory
  • Surveys and Questionnaires
  • Time Factors