Genetic Counselling for Predictive Testing in XXXX in One Centre since 1993. Gender-Specific Aspects of Decision-Making.

@entity1 @entity2033
BACKGROUND: The discovery of the mutation causing @entity2033 ( @entity2033 ) in 1993 allowed direct mutation analysis and predictive testing to identify currently unaffected carriers with a sensitivity and specificity of virtually 100%. OBJECTIVE: The present study was designed to comprehensively profile the @entity1 who sought predictive testing for @entity2033 between 1993 and 2009 in our Huntington centre. METHODS: Using a retrospective design, we analysed the written documentation of the counselling sessions for all referrals for predictive mutation testing in this time span. Six hundred sixty-three individuals at risk for @entity2033 requested predictive testing. Roughly half (n = 333) completed the protocol and received their test result. RESULTS: In general our findings are in accordance with other reports: most @entity1 share an a priori risk of 50% (91.1%); more females request testing (58.5%); and those who ask for the result are mostly in their 30 s (mean = 35.1 years). Of those at 50% or 25% prior risks, 47.4% and 22.7%, respectively, tested positive in accordance with the respective risk of inheriting @entity2033 . Generally, more @entity1 with an affected mother than father sought genetic testing (52.5% versus 47.5%). Interestingly, this difference was especially evident in the group of females who finally withdrew from testing (59.1%, p = 0.040). @entity1 , in particular those who decided in favour of the test, were more often accompanied by their partner in the pre-test counselling session than vice versa (67.9% versus 44.7%, p = 0.003). On the other hand, significantly more @entity1 who were being tested did not have a companion in the pre-test session as compared with @entity1 who decided against the test (40.0% versus 25.7%, p = 0.012). During the first four years of predictive testing (1993   1996) more @entity1 completed the protocol and received their test result as in later years. Yet, in this early time span significantly fewer females finally decided in favour of the test (48.4%, p = 0.005). These findings are discussed longitudinally and in the context of the experience in other centres. CONCLUSIONS: We present new gender-specific aspects of decision-making for predictive @entity2033 tests.
