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Background\udVariation in patients’ experience of genetic services may affect their willingness to undergo testing and to participate in posttest disease prevention. The aim of this study was to investigate the main factors that may influence how patients experience genetic testing and post-testing care pathways.\ud\udMethods\udTelephone surveys were administered to 370 individuals who underwent testing for APC, BRCA1/2, or inherited thrombophilia (FV Leiden and/or FIIG20210A). Outcomes (selfreported) were patient satisfaction with genetic counselling, patient perception of collaboration between actors in and out of the genetic service, and the impact of genetic testing on patient quality of life. Logistic regression analyses were used to assess determinants that could affect these outcomes.\ud\udResults\udThe response rate was 64% (237/370). Respondents included 33 tested for APC, 104 for BRCA1/2, and 100 for inherited thrombophilia. The majority of patients receiving counselling were satisfied with both pre-test (100% APC; 98% BRCA; 86% FVL/FII) and post-test (97% APC; 98% BRCA; 60% FVL/FII) sessions. Patients tested for cancer susceptibility reported significantly higher levels of satisfaction than those tested for thrombophilia in both pre-test (98 vs 86%; p<.001) and posttest counselling (98 vs 60%; p<.001). Face-to-face counselling was associated with more satisfaction than other counselling options. Patients tested for cancer susceptibility reported more perceived collaboration between health providers than those tested for thrombophilia (OR = 2.53; 95% CI = 1.23-5.23), and were also more likely to report improvement in life quality after testing (OR = 2.58; 95% CI = 1.22-5.47).\ud\udConclusions\udPatients show high satisfaction with genetic testing and tend to perceive their care pathways as integrated. The perceived quality of testing is significantly associated with the type of genetic disease.\ud\udKey messages:\ud Genetic counseling, management of genetic care paths and overall experience of undergoing genetic testing were judged more positively by patients tested for cancer than those tested for thrombophilia\ud Patients’ perceptions may be influenced by the appropriateness and clarity of guidelines for different types of genetic test

How do patients experience genetic testing? Survey on patients tested for cancers and thrombophilia