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Article

Patients' perspectives regarding health professionals contacting their relatives about genetic risk directly (with patient consent).

European journal of human genetics : EJHG - 1 Apr 2025

Tiller Jane, Finlay Keri, Madelli Evanthia O, Monnik Melissa, Jackson Matilda R, Poplawski Nicola, Boughtwood Tiffany, Nowak Kristen J, Otlowski Margaret

Abstract excerpt

Genetic testing of blood relatives of individuals at high risk of dominant conditions has significant preventive health benefits. However, cascade testing uptake is <50%. Research shows increased testing uptake when health professionals (HPs) contact at-risk relatives directly, with patient consent. Despite international support, this is not standard practice in Australia. We aimed to gather perspectives of...

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PMID: 39702591
DOI: 10.1038/s41431-024-01764-y
PMCID: PMC11986157

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