lunes, 25 de noviembre de 2013

Evaluation after five years of the cancer genetic... [Fam Cancer. 2013] - PubMed - NCBI

Evaluation after five years of the cancer genetic... [Fam Cancer. 2013] - PubMed - NCBI

Fam Cancer. 2013 Nov 16. [Epub ahead of print]

Evaluation after five years of the cancer genetic counselling programme of Valencian Community (Eastern Spain).


Conselleria de Sanitat, Agència Valenciana de Salut, C/Micer Mascó 31, 46010, Valencia, Spain,


To evaluate the cancer genetic counselling programme in Valencian Community using intermediate indicators. Descriptive analysis of organisational and effectiveness indicators from the start in 2005 until December 2010: correct referral of patients according to the area from where they were referred (primary or hospital-based care) and syndrome; families identified as having each syndrome; suitability of the genetic testing for individuals with a cancer diagnosis (index cases, IC) and relatives of ICs with mutations; family size; and results of genetic testing on genes, ICs and relatives. 9,942 individuals attended, 87.7 % were referred by hospital-based care and 8.4 % by primary care. 7,516 patients (79 %) fulfilled cancer genetic counselling criteria (82 % from hospital-based care and 46 % from primary care). Amongst those who fulfilled the criteria, 59 % of referrals were related to hereditary breast ovarian cancer syndrome and 32 % to hereditary non-polyposis colorectal cancer. ICs were found in 3,082 families (78.7 %) and genetic testing was carried out on 91.3 % of them. Pathogenic mutations were detected in 21.8 % of the ICs and the testing was then offered to their relatives (an average of 3 per IC). Pathogenic mutations were found in 54 % of the assessed relatives. Results in 5 years confirm the appropriateness of these facilities, as part of an integrated health service, to identify families and individuals with genetic risk to offer them personalized counselling. Improvements have to be made with regard to the information given to both health professionals and patients about the risk criteria for various syndromes.
[PubMed - as supplied by publisher]

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