How Can We Reach At-Risk Relatives? Efforts to Enhance Communication and Cascade Testing Uptake: a Mini-Review

Abstract

Cascade testing, or screening, is the process of stepwise, systematic genetic testing of at-risk relatives for a genetic variant originally identified in a proband. Cascade testing effectively identifies at-risk relatives who would benefit from early screening and/or medical intervention, and can potentially lead to early diagnoses and disease prevention. However, recent studies highlight the need for additional resources to enhance family communication and improve the cascade testing process. In this mini-review of cascade testing, we discuss various factors that influence the effectiveness of communicating genetic risk information among families, including barriers, provision of additional resources, direct contact, and the role of technology and healthcare providers. Patients desire and value involvement of healthcare providers in the cascade testing process. Uptake of cascade testing increases when patients are provided with educational materials and technological resources, and when healthcare providers assist with communicating risk to their at-risk relatives. Through achievable adjustments in patient care, healthcare providers can facilitate family communication and uptake of cascade testing. This can be done by asserting the importance of genetic testing results to at-risk family members when reviewing results with patients and leveraging technological tools and other options for direct contact to maximize the benefits of earlier diagnosis and prevention.