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Clinical geneticists' attitudes and practice towards testing for breast cancer susceptibility genes
  1. *Department of Clinical Genetics, Churchill Hospital, Oxford OX3 7LJ, UK
  2. †Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey SM2 5NG, UK

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    Editor—Cancer genetics, and in particular breast cancer genetics, is the fastest expanding discipline within clinical genetics. Cancer referrals now constitute a third of all referrals to most clinical genetics centres. Currently there are no national guidelines on predictive testing for BRCA1and BRCA2. Several members of the same family may be seen in different centres and offered different clinical management. Such differences may in part be attributable to differences in funding of genetic services and testing at the service or research level, but it is clear that this area also involves various ethical dilemmas that may well be viewed differently by different practitioners. In order to investigate the nature and degree of variation that exists in practice and attitudes among clinical geneticists, we have undertaken a survey of all clinical geneticists in the United Kingdom who deal with cancer genetics.

    Four clinical case scenarios were devised from the authors' own clinical experience to assess attitudes and practice towards breast cancer gene testing. Questionnaires were sent to 57 geneticists in the United Kingdom, representing all specialist registrar and consultants involved in cancer genetics. Each was asked to respond to questions relating to each scenario and to state the reasons for their decisions. Forty seven completed questionnaires were received (83% compliance). All clinical genetics centres in the UK were represented by at least one response. In three instances a joint response involving more than one geneticist from a centre was returned. The four clinical cases are given below. For each case the salient points raised by selected respondents for arriving at their decision are given.

    Case 1. A woman has been shown to carry a pathogenic mutation in the BRCA1 gene. She is 9 weeks pregnant and requests a prenatal test to see whether the fetus also carries …

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