Access to active search for actionable secondary findings (SF) in diagnostic practice is a
major psychological and ethical issue for genomic medicine. In this study, we analyzed the
preferences of patients and their families regarding SF and identified the reporting
procedures necessary for informed consent. We interviewed parents of patients with
undiagnosed rare diseases potentially eligible for exome sequencing and patients affected
by the diseases listed in the ACMG recommendations. Four focus groups (FG) were formed …

Study design: The Focus Group (FG) method (Kitzinger et al., 1999)(Morgan, 1993) is a
qualitative research method that allows semistructured discussions to be conducted using
pre-defined questions. When conducted by professionals used to handling potentially
conflicting views or positions and preventing tacit consensus formation, they can facilitate
the expression of a variety of opinions while preventing restriction, hierarchy or consensus
building. Collected data are illustrated by powerful paradigmatic verbatim statements which …