Article
Attitudes towards disclosure of familial genetic risk in a Mediterranean island population - A survey of the Maltese population.
European journal of medical genetics - 1 Oct 2024
Mintoff Dillon, Booker Bettina, Debono Shannon, Farrugia Matthias, Pace Nikolai Paul
Abstract excerpt
Germline genetic testing has implications that extend beyond the individual patient to relatives, particularly for high-penetrance variants implicated in hereditary cancer or neurodegenerative syndromes. Many countries encourage patient-led communication to inform at-risk relatives, although the efficacy and uptake of this approach varies. Alternative scenarios envisage direct contact mediated by clinicians. The...
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