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

Abstract

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 genetic testing patients about direct-contact methods. Using an online survey, we surveyed Australian adults with genetic results of relevance for relatives, including patients who (i) self-categorised as being directly contacted by a clinical service, (ii) self-categorised as being referred by a HP, and (iii) received genetic results through a research study. Overall, 442 patients responded (clinical n = 363; research n = 79). Clinical patients self-categorised as 49.0% directly-contacted and 51.0% referred. Overall, the majority of patients had no privacy concerns about direct-contact methods (direct-contact 97%; referred 77%; research 76%). Less than 5% of the combined cohort (n = 19/442) reported significant concerns. The most prevalent concerns were the need for consent to provide HPs with relatives' contact details, and a patient preference to notify relatives before HP contact. Other key findings include preferences about contact methods, including that most patients who received a letter from a genetics service preferred a letter with specific information about the familial genetic condition (n = 141/149; 94.6%) than one with general information about genetic risk. Our findings indicate Australian patients support HPs using direct-contact methods to assist with risk communication to relatives. Findings also identify concerns to be addressed in the design of direct-contact programs.