P618: Misuse of opportunistic screening highlights shortcomings in clinical ascertainment

The ACMG guidelines for returning medically actionable secondary genomic variants have been implemented in many contexts including direct-to-consumer (DTC) genetic testing and in genomic research studies. These findings are considered “secondary” when obtained via non-clinical opportunistic screening pathways where there is no clear “primary” indication for sequencing. In many of these scenarios, if and how personal and family history data were obtained and to what extent these data were available to the entities responsible for ordering and/or interpreting sequence data is similarly unclear.