Predictive testing for XXXX mutations: a male contribution.

@entity1 @entity6069 @entity263
BACKGROUND: Management strategies for @entity1 carrying @entity6069 mutations are becoming clearer and predictive testing for a known family mutation is commonly undertaken. Implications for @entity1 are not as clear and they participate less frequently. @entity1 AND METHODS: Twenty-six @entity1 from 10 extended families underwent predictive testing. Their motivation, reaction and outcome were studied. Subjects had appropriate pre- and post-test counselling. Informed consent was obtained before predictive testing for known deleterious mutations. DNA analysis followed standard procedures. RESULTS: Eighteen tested positive and eight negative. Four had adverse psychological reactions and three reneged on their commitments to impart results. The spouse of another @entity1 had an adverse psychological reaction to the disclosure of his positive result. Two, already suffering from @entity263 , were phenocopies and paternal lineage transmission was unexpectedly determined in another. Risk was removed from 33 offspring and confirmed for 56. CONCLUSIONS: Complex themes associated with genetic testing are confirmed and the spectrum extended. @entity1 appear to understand the importance of participating in this process. Methods of avoiding adverse reactions merit further study along with other aspects of the process.
