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Family Practice Advance Access published online on August 22, 2005
Family Practice, doi:10.1093/fampra/cmi088
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© The Author (2005). Published by Oxford University Press. All rights reserved.
Received June 16, 2004
Accepted August 27, 2004

Article

GPs' opinions of their role in prenatal genetic services: a cross-sectional survey

Nadeem Qureshi 1*, Sarah Armstrong 2, and Bernadette Modell 3

1 Division of Primary Care Practice, School of Community Health Sciences, Medical School, University of Nottingham, Queen's Medical Centre, Nottingham NG7 2UH, UK
2 Trent Institute for Health Services Research, School of Community Health Sciences, University of Nottingham, Queen's Medical Centre, Nottingham NG7 2UH, UK
3 Royal Free and University College Medical School (RF & UCMS) Department of Primary Care and Population Sciences, Holborn Union Building, Whittington Campus, Highgate Hill, London N19 5LW, UK

* To whom correspondence should be addressed.
Nadeem Qureshi, E-mail: nadeem.qureshi{at}nottingham.ac.uk


  Abstract

Background. In the UK about 4.5% of the population carry cystic fibrosis, whilst in the inner city areas an even higher proportion carry one of the haemoglobin disorders such as thalassaemia. Couples who both carry the same recessive disorder have a 1 in 4 risk of an affected child in every pregnancy.

Objectives. To assess GPs' confidence in their ability to provide initial prenatal advice for couples carrying common autosomal recessive disorders (either the cystic fibrosis or thalassaemia gene), and their opinions of different approaches for referral to prenatal diagnostic services for such at-risk couples.

Methods. A cross-sectional postal survey of all 644 GPs in 388 general practices in Nottinghamshire. Practices were randomly allocated to receive either the cystic fibrosis or the thalassaemia scenario survey. The survey questions predominantly used six-point Likert scales to assess confidence and opinions of prenatal services.

Results. The questionnaire was returned by 62% (397) of GPs. Only 23% (91) were confident in providing prenatal advice to the at-risk carrier couples. GPs were more confident about advising cystic fibrosis carriers than thalassaemia carriers (P = 0.01). The least popular approach to prenatal service provision was direct referral to prenatal services after counselling with 52% (194) scoring this as useful, whilst 60.5% (233) of GPs scored referral to the obstetric services with the prenatal diagnosis organised by the obstetrician as useful.

Conclusions. GPs perceive that they lack the confidence to provide basic prenatal genetic advice to women at risk of the commonest recessive disorders, with particularly low confidence where the couple both carry thalassaemia. A significant knowledge gap was demonstrated by the poor awareness of the importance of rapid referral to prenatal diagnostic services.

Keywords: Family practice; medical genetics; prenatal diagnosis; survey; thalassaemia.
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