Abstract
Genetic testing has its greatest public health value when it identifies individuals who will benefit from specific interventions based upon their risk. This paradigm is the basis for the use of predictive tests, such as BRCA1/BRCA2 testing which has become part of clinical practice for more than a decade. Currently predictive BRCA1/BRCA2 testing is offered to women using low, moderate and high risk based upon family history as cut-off levels. Non-genetic health professionals such as general practitioners (GPs) and breast surgeons (BS) are seen as gatekeepers to manage demand and/or facilitate access to appropriate services for high-risk patients. Data about current practices are lacking. The paper presents data on the current practice of GPs' and BS' cancer risk assessment, referral practices and preferred practice responsibilities for women at risk for familial breast cancer in France, Germany, the Netherlands and the UK derived by a self-administered questionnaire send to a representative sample of GPs and BS in the four countries. One thousand one hundred ninety-seven GPs and 1,223 BS completed the questionnaire. Both GPs and BS reported that they are consulted by a considerable number of patients presenting with concerns about a family history of cancer. Both commonalities and striking differences could be observed between GPs and BS from the four participating countries. GPs from France and Germany reported significantly higher proportions taking a family history of cancer including the extended family than GPs from the Netherlands and the UK. Most GPs from France, Germany and the Netherlands stated their willingness for providing risk assessment for an unaffected (high-risk) woman with a family history of breast cancer and the vast majority of BS from all four countries reported that they themselves would provide risk assessment for an unaffected (high-risk) woman with a family history of breast cancer. However, a substantial number of both GPs and BS would not have taken an appropriate family history for their patient failing to take into account the paternal side of the family. GPs from Germany reported a significantly lower readiness to refer a patient with a family history of a BRCA1 mutation for specialist genetic counselling when compared to the GPs from the other countries. GPs and BS from France, Germany and the Netherlands significantly less often assigned practice responsibilities to a genetic specialist as compared to the participating GPs and BS from the UK. The outcome of the study confirms the need for capability building in genetics for non-genetic health professionals. Using genetic risk assessment tools without a full understanding could result in missed opportunities for cancer prevention and harm patients. In order to provide best possible services for high-risk patients presenting with cancer concerns, close collaboration with clinical geneticists should become routine part of mainstream medical practice.
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Notes
See the ESHG's Public and Professional Policy Committee recommendations: https://www.eshg.org/ppc0.html (last accessed July 22, 2013)
http://www.eurogentest.org (last accessed July 22, 2013)
Because in France, breast surgeons who treat breast cancer can belong to different specialities such as surgery or obstetrics and gynaecology, a random sample was drawn of (a) surgeons with a practice of breast surgery and (b) obstetricians and gynaecologists. In the following, the two groups will be characterized as FGyn and FChir.
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Acknowledgments
The InCrisC study was supported by the German Bundesministerium fuer Bildung und Forschung (BMBF, Federal Ministry of Education and Research), contract number 01GP0617.
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The paper conforms to the ethical requirement for research in Germany. No experiments were done to produce this paper.
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This article is part of the special issue “Predictive Genetic Testing, Risk Communication and Risk Perception”.
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Nippert, I., Julian-Reynier, C., Harris, H. et al. Cancer risk communication, predictive testing and management in France, Germany, the Netherlands and the UK: general practitioners' and breast surgeons' current practice and preferred practice responsibilities. J Community Genet 5, 69–79 (2014). https://doi.org/10.1007/s12687-013-0173-x
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DOI: https://doi.org/10.1007/s12687-013-0173-x