Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

We evaluated whether genetic tests with evidence of clinical and personal utility (i.e. APC and BRCA1/2 tests) are associated with higher satisfaction and a more positive perception of care experience than those with undefined utility (i.e. tests for thrombophilia). A cross-sectional survey was performed through telephone interviews to patients tested for deleterious variants in APC or BRCA1/2 genes, or for inherited thrombophilia (FV Leiden and/or FIIG20210A) during a 5-year period (2008-2012). Three aspects of patient experience were assessed: effective communication through pre- and post-test genetic counselling; collaboration between caregivers on the management of patient care; and impact of genetic testing on quality of life. Overall 237 patients had telephone interviews. Multivariate logistic regression analyses showed that patients tested for APC or BRCA1/2 variants were more likely to be satisfied with both pre- and post-test counselling than those tested for inherited thrombophilia (APC vs. thrombophilia, p = 0.039 and 0.005; BRCA1/2 vs. thrombophilia, p = 0.030 and <0.001). Patients tested for APC were more likely to report an improvement in quality of life than those for thrombophilia (OR = 2.97, 95%CI 1.14, 7.72; p = 0.025). A positive association was observed between patients who underwent BRCA1/2 testing, and self-perceived improvement in quality of life (OR = 1.41, 95%CI 0.74, 2.69; p = 0.294). Tests of undefined clinical and personal utility are associated with a lower degree of patient satisfaction with genetic counselling and no clear opinions on changes in quality of life compared with those with well-defined utility.

Original publication




Journal article


Eur J Hum Genet

Publication Date





518 - 526


Adolescent, Adult, Aged, Attitude, Female, Genetic Counseling, Genetic Predisposition to Disease, Genetic Testing, Humans, Male, Middle Aged, Neoplasms, Patients, Thrombophilia