Health professionals contacting patients’ relatives directly about genetic risk (with patient consent): current clinical practice and perspectives

Abstract

Genetic testing can provide risk information to individuals and their blood relatives. Cascade testing uptake by at-risk relatives is <50%, with suboptimal family communication a key barrier to risk notification. The practice of health professionals (HPs) directly contacting relatives (with patient consent) to assist with risk notification has significant international support, but little is known about the practices and views of HPs in Australia. We surveyed Australian clinical genetics and laboratory services (public and private) which offer genetic testing of relevance to relatives, about current practices and views. Of 104 services invited, 78 responded to our online survey (75.0% response rate; clinical n = 59/81; laboratory n = 19/23). Most clinical services (83.3%) agreed it would be beneficial to contact at-risk relatives directly. However, the majority (80.4%) do not routinely contact relatives directly, with inadequate resources (80.0%) and privacy concerns (62.2%) cited as primary reasons. If direct contact methods were used, most clinical services (65.4%) prefer a letter which includes specific information about the genetic condition. Most clinical (86.5%) and laboratory (88.2%) services saw benefit in the development of a national clinical guideline for HPs regarding direct contact. This study confirms that most clinical genetics services would see benefits to being able to assist patients by contacting relatives directly about their potential genetic risk. Our findings highlight the need for a national clinical guideline clarifying HPs’ legal and privacy obligations, and provide an opportunity for clinical services to reconsider their allocation of resources to prioritise assisting patients with risk notification.