Systematic review of preferences for additional findings from genomic testing

The increasing use of genomic testing in clinical and research contexts raises how best to manage additional findings (AFs). This systematic review of the preferences of clinical patients and research participants for what and how AFs should be returned, aims to inform development of guidelines and policies that are inclusive of test recipients. Framework analysis was used to systematically review qualitative and quantitative studies exploring preferences for AFs in clinical and research contexts and identify key themes. Eighty-seven studies were included involving a total of 71,486 study participants. The right to choose whether and what AFs to receive was highly supported. Actionable findings and findings with familial implications were highly desired across studies. Additionally, a substantial number of studies identified mixed interest in findings currently not returned, including non-actionable findings and variants of unknown significance (VUS). Penetrance and certainty influenced perceived relevance and decisions regarding what to receive, with varying thresholds identified within studies. This review identified a consistent desire for systematic support for test recipient decision-making and managing AFs. The findings of this review support existing emphasis on recipient choice. However, recipient strength of preference for a broad variety of findings indicates that a minimum acceptable return of actionable findings should be established in national guidelines and the feasibility of offering other types of findings should be explored.