NDLI: Genetic testing for familial/hereditary breast cancer—comparison of guidelines and recommendations from the UK, France, the Netherlands and Germany

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Some considerations about a report on ‘Public health in an era of genomic-based and personalized medicine’ from the Public Health Foundation, Cambridge

Journal of Community Genetics : Volume 2, Issue 1, March 2011

Journal of Community Genetics : Volume 1

Genetic testing for familial/hereditary breast cancer—comparison of guidelines and recommendations from the UK, France, the Netherlands and Germany

Content Provider	Springer Nature Link
Author	Gadzicki, Dorothea Evans, D. Gareth Harris, Hilary Julian Reynier, Claire Nippert, Irmgard Schmidtke, Jörg Tibben, Aad Asperen, Christi J. Schlegelberger, Brigitte
Copyright Year	2011
Abstract	In this review, the national guidelines and recommendations for genetic testing for familial/hereditary breast cancer from the UK, France, the Netherlands and Germany were evaluated as to the inclusion criteria for genetic testing. In all four countries, access to genetic testing relies basically on the family history of breast and ovarian cancer. Similarities are obvious for most selection criteria. All four guidelines recommend embedding genetic testing within a framework of genetic counselling, and all agree to perform genetic testing first in an affected person. However, there are differences regarding the thresholds based on certain familial constellations, detailed description of selection criteria, the degree of relatedness between affected individuals and the counsellee, the age of diagnosis, the individual history of early onset breast cancer, bilateral breast cancer, the tumour morphology or the access to intensified surveillance. These differences and open questions not covered by the guidelines, e.g. on how to deal with phenocopies, unclassified variants, genetic variants in newly identified breast cancer susceptibility genes or with family constellations not fitting the criteria, are discussed. New evidence is usually slowly integrated into the guidelines. An exchange process towards the harmonization of the guidelines will ensure high quality health care across Europe.
Starting Page	53
Ending Page	69
Page Count	17
File Format	PDF
ISSN	1868310X
Journal	Journal of Community Genetics
Volume Number	2
Issue Number	2
e-ISSN	18686001
Language	English
Publisher	Springer-Verlag
Publisher Date	2011-03-02
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Hereditary breast cancer BRCA1 and BRCA2 Genetic testing Inclusion criteria European comparison Gene Function Public Health/Gesundheitswesen Human Genetics Gene Therapy Epidemiology
Content Type	Text
Resource Type	Article
Subject	Public Health, Environmental and Occupational Health Epidemiology Genetics (clinical)

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