J Med Screen

Attitudes of general practitioners to screening for cystic fibrosis.

Year 1998
Mennie M. Campbell H. Liston WA. Brock DJ.
Human Genetics Unit, Western General Hospital, Edinburgh, UK.
OBJECTIVE: To ascertain the views of general practitioners (GPs) about screening for cystic fibrosis. To find out whether and under what conditions they might play a part in the delivery of such programmes. SETTING: All GP practices within the Lothian Health Board area. METHODS: A self administered questionnaire was sent to each of the 532 GPs in the area. RESULTS: 334 (63%) GPs participated in the study. Only 23% of these claimed to have no professional or personal experience of the disorder. 77% of GPs were aware of the existence of a programme of antenatal screening for cystic fibrosis (CF), which had been running in Edinburgh for the past six years, with only 2% unfavourably disposed to it. However, when asked to rank CF screening against antenatal screening for spina bifida and Down's syndrome, or cervical and breast screening, 55% gave it the lowest priority. There was fairly equal support for the screening site being an antenatal clinic, a genetic centre, a family planning clinic, or a GP surgery, but little enthusiasm for programmes in schools or the workplace. Surprisingly, only 13% of GPs thought that screening should be offered to those with a negative family history of the disorder. Although the idea of involvement in screening was favoured, GPs claimed that any aspect of delivery that they undertook would need to be supported. There were no significant differences between the responses of fundholding GPs and non-fundholders. CONCLUSIONS: The low ranking by GPs of CF screening against other programmes, together with the need for support if they were to be involved, suggests that it is currently impractical to move the programme from its existing site in antenatal clinics.

Neonatal screening for the cystic fibrosis main mutation delta F508 in Estonia.

Year 1998
Klaassen T. Teder M. Viikmaa M. Metspalu A.
Institute of Molecular and Cell Biology, Tartu University, Estonian Biocentre, Estonia.
In this pilot study the frequency of delta F508 mutation carriers, their geographic distribution, and the prevalence of cystic fibrosis (CF) in Estonia were investigated. During the screening programme 7396 newborns were tested for delta F508 mutation and 88 were found to carry this deletion. The mean frequency of delta F508 mutation carriers in Estonia was thus estimated as 1 out of 84 live births. In eight separate districts of Estonia the heterozygote frequencies differed significantly (p = 0.0369), with the highest incidence (1:36) on the Baltic Sea islands and western coastal region and with the lowest in south eastern parts of Estonia.