Journal article

Systematic review of preferences for additional findings from genomic testing

D Sheen, A Willis, Z Fehlberg, M Southey, I Goranitis, MA Young

European Journal of Human Genetics | Published : 2026

Abstract

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 findi..

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