Figure 2.

Actionable and nonactionable exome findings. The percentage of participants in whom each category of finding was identified. These include actionable findings, which are defined as likely pathogenic or pathogenic variants in genes associated with diseases that are moderately to highly penetrant, the identification of which was likely to result in altered medical management in the form of treatment, screening, or preventative measures, as described in published guidelines. The second category of findings represented is carrier status, which includes participants in whom at least one heterozygous likely pathogenic or pathogenic variant was identified in a gene associated with an autosomal recessive condition. The final category of finding is APOE status. The “APOE e4” designation includes all participants who had either one or two e4 alleles.