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Criteria for a genetic screening service
A paper in the BMJ reports the recommendations of a Canadian workshop on the criteria that should be satisfied by genetic screening programmes [Goel, V. (2001) BMJ 322, 1174-1178]. Starting with the classical Wilson and Jungner criteria, the participants adapted and added to them to arrive at an expanded set that they felt were appropriate for screening programmes involving genetic tests. Additions to the Wilson and Jungner criteria include the need to ensure that facilities are available for education, counselling and social support; that these factors are included in the economic analysis of the programme; that screening does not lead to discrimination or violation of confidentiality; and that the test is acceptable to the individual, their family and society. Another important addition is that the target population or population at risk should be identifiable. Although not explicitly stated, the assumption seems to be that identification would usually be on the basis of family history. The paper describes the use of the proposed criteria to assess a hypothetical programme to screen for hereditary colorectal cancer.
Comment: The proposed criteria represent a good starting point for discussion. It could be argued, however, that many of the assumptions that underlie the additional criteria may be appropriate only for the rare highly-penetrant Mendelian (single-gene) subsets of common disease, such as hereditary non-polyposis colorectal cancer. If programmes were ever to be proposed that involved screening for (combinations of) normal polymorphisms involved in susceptibility to common disease, extensive counselling might not be necessary. Another possible weakness of the paper is that it does not define when a test or screening programme should be defined as "genetic".
