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

Familial Cancer
Dolores Cuevas-Cuerda, Dolores Salas-Trejo

Abstract

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...Continue Reading

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Citations

Jun 16, 2016·Frontiers in Psychiatry·Francisco López-Muñoz, Esther Cuerda-Galindo
Dec 5, 2018·The British Journal of General Practice : the Journal of the Royal College of General Practitioners·Flore LaforestAdrian Edwards
Jul 24, 2021·BMC Medical Genomics·Himika GuptaGovindasamy Kumaramanickavel

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