Fig. 1: Hypothetical 180-day mortality of severely ill infants with suspected genetic disease without diagnostic genome-wide sequencing (GWS) (green curve) or with the benefit of diagnostic GWS (red and purple curves).
From: Genome-wide sequencing in acutely ill infants: genomic medicine’s critical application?
Note that diagnostic GWS is postulated to have two opposing effects on mortality: In infants diagnosed as having a condition that is lethal early in infancy, diagnostic GWS permits substitution of comfort care for intensive support, which results in earlier death (red portion of the curve). Some other infants with potentially lethal conditions are diagnosed as having a treatable condition, and the institution of precision therapy provides a reduction in mortality (purple portion of the curve). Figure redrawn after Petrikin et al., 2015 (ref. 33)
