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Fam Pract. 2003 Apr;20(2):135-41.

Referral for genetic counselling during pregnancy: limited alertness and awareness about genetic risk factors among GPs.

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Department of Clinical Genetics, Academic Medical Center, Meibergdreef 15, 1105 AZ Amsterdam, The Netherlands.



In many countries, GPs play a key role in the referral to other medical specialists. Referral for reproductive genetic counselling during a pregnancy of women with a genetic risk factor already present before pregnancy has many disadvantages. Nevertheless, some 10-20% of the counsellees who attend a Department of Clinical Genetics for the first time are pregnant.


We aimed to explore the role of the GP in referring women for genetic counselling during, instead of before a pregnancy.


The GPs of 100 pregnant women who received genetic counselling were invited to participate in the study and asked to complete a questionnaire. The topics were: initiation and discussion of aspects of referral to the Department of Clinical Genetics; reasons for the referral during, instead of before a pregnancy; knowledge of genetic counselling; attitudes towards genetic counselling before a pregnancy; and attitudes towards abortion.


To our surprise, 29% of the GPs indicated that they had not been involved in the referral to the Department of Clinical Genetics at all. Furthermore, the referral was initiated by the patient herself in most cases (40%) and by the GPs in 31% of the cases. Of the GPs who were involved in the referral, most of them (79%) talked to their patients to different extents about what to expect from their visit to the Department of Clinical Genetics; however, potential choices after an adverse outcome at prenatal diagnosis were discussed less often (60%). The main reason for referring the patient during, instead of before her pregnancy was because the GP was unaware of a potential risk factor before pregnancy (71%) and, consequently, never had a chance to talk about a referral before (71%). Other reasons for referral during pregnancy mentioned by the GPs were reassuring the patient about the health of her unborn child (32%) and the wish of the patient to be referred during pregnancy (31%). GPs considered their knowledge of clinical genetics to be limited (mean score 5, on a scale from 0 to 10). The majority of the GPs were in favour of genetic counselling taking place before, instead of during pregnancy, and they had no great objections to abortion.


During pregnancy, the gatekeeper function of the GP in the referral for genetic counselling is undermined. Limited alertness and awareness among GPs about genetic risk factors in their patients played a major role in this undermined function and in the less appropriate timing of referral. Neither insufficient knowledge nor barriers to acceptance explained this lack of alertness and awareness. We advocate the implementation of routine family history taking in general practice.

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