European Cystic Fibrosis Society

About 20 experts from all over the world met in Garda, North Italy 20-21 March 2009 in an ECFS consensus meeting "Cystic Fibrosis Carrier Screening in Europe: Management, development, Research" organized by Carlo Castellani, Harry Cuppens and Milan Macek Jr. The aim was to agree upon recommendations related to possible national CF carrier screening programs.

It was generally felt that the issue was extremely complex. CF creates a heavy burden to patients, families and societies, but simultaneously treatment has been and is improving leading to much better prognosis of the patients. There are no national CF carrier screening programs in Europe but numerous couples are screened as suggested by their gynaecologists, which leads to a non-democratic selection of those screened. Mutational background is very complex and varies between populations.

Because of all these reasons, starting population carrier screening programs is controversial. There was no clear consensus about the usefulness and feasibility of CF carrier screening programs and the decisions have to be made by national health services and based on the local situation.
On the contrary, there was strong consensus that if CF carrier screening programs are instituted, they have to be of high quality and well planned. Educating professionals and the public has to precede the program, and appropriate pre-test information has to be guaranteed to ensure free informed consent. Genetic counselling has to be available and actively offered at least to the identified carrier couples. The laboratories involved should preferably be accredited. The panel of mutations studied initially and, especially in case of spouses of carriers, has to be carefully chosen, based on the most recent research.

The group aims at completing a consensus paper by the end of this year.