Genetic Testing for Familial Cancer

Vol. 11, No. 1, 2008

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Genetic Testing for Familial Cancer
The French National Report (Year 2003)
François Eisinger

Paoli-Calmettes Institute (Regional Cancer Center); INSERM UMR599, Marseille, France

Address of Corresponding Author

Community Genet 2008;11:63-67 (DOI: 10.1159/000111640)

Key Words

BRCA
Germline mutation
Health policy
Health services
Hereditary cancer
Neoplastic syndromes
Program evaluation

Abstract

Background: Since 2002, hereditary cancer gene testing has been funded at the national level in France. Here we report on the impact of this funding on the number of tests carried out and specify the genes/syndromes on which these tests focus. Methods: All French laboratory facilities funded had to submit a report on their activities to the French Health Ministry in March 2004. Results: Funding has led to an increase of >344% in the number of tests carried out between the years 2000 and 2003. For every 100,000 inhabitants, 16.02 cases with a familial cancer syndrome (index cases subjected to 'diagnostic genetic testing') and 4.44 relatives of an index case with a proven mutation were tested. The overall mutation detection rate was 15.2% in the case of breast cancer genes and 17.2% in that of mismatch repair genes. Conclusion: In France, the current mutation detection rate is high in comparison with the 10% benchmark level. A further increase can be expected to occur in the number of tests carried out in the future.

Author Contacts

François Eisinger
Paoli-Calmettes Institute
232 Boulevard Sainte Marguerite
FR-13009 Marseille (France)
Tel. +33 491 22 35 41, Fax +33 491 22 38 57, E-Mail eisinger@marseille.inserm.fr

Article Information

This survey did not require any specific funding but was a regular part of the author's assignment. He had full access to all the data used in the study and takes full responsibility for the quality of the data and the accuracy of the data analysis. This text was partially written while the author was in sabbatical at the British Columbia Cancer Agency (Hereditary Cancer Program).

Number of Print Pages : 5
Number of Figures : 0, Number of Tables : 3, Number of References : 15

Medline Abstract (ID 18196919)

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Public Health Genomics
is the continuation of
Community Genetics

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