Table 1.
Patient characteristics (n = 106)
| Age | |
|---|---|
| Median | 9 years |
| Range | 1 day to 60 years |
| Patients <18 years of age | 71 (67%) |
| Patients ≥18 years of age | 35 (33%) |
| Sex | n (%) |
| Female | 55 (51.9) |
| Male | 51 (48.1) |
| Indication for exome sequencing | n (%) |
| Hematologic disorder | 1 (0.9) |
| Hereditary hemorrhagic telangiectasia | 1 (0.9) |
| Pulmonary disorder | 1 (0.9) |
| Autoimmune disorder | 2 (1.9) |
| Decreased growth velocity | 2 (1.9) |
| Dermatology disorder | 2 (1.9) |
| Dysmorphic features | 2 (1.9) |
| Renal disorder | 2 (1.9) |
| Cardiovascular disorder | 8 (7.5) |
| Cardiovascular & neurological disorder | 14 (13.2) |
| Neurological disorder | 71 (67) |
| Elected to receive pharmacogenomic results | n (%) |
| No | 7 (6.6) |
| Yes | 99 (93.4) |
| CYP2C9 phenotypes | n (%) |
| CYP2C9 normal metabolizer | 69 (69.7) |
| CYP2C9 intermediate metabolizer | 25 (25.3) |
| CYP2C9 poor metabolizer | 5 (5) |
| CYP2C19 phenotypes | n (%) |
| CYP2C19 ultrarapid metabolizer | 5 (5) |
| CYP2C19 rapid metabolizer | 36 (36.4) |
| CYP2C19 normal metabolizer | 37 (37.4) |
| CYP2C19 intermediate metabolizer | 19 (19.2) |
| CYP2C19 poor metabolizer | 2 (2) |
| Warfarin sensitivity | n (%) |
| Normal sensitivity | 60 (60.6) |
| Increased sensitivity | 39 (39.4) |
| Actionable pharmacogenomic phenotypes | n (%) |
| No actionablea phenotype | 15 (15.2) |
| One actionablea phenotype | 44 (44.4) |
| Two actionablea phenotypes | 33 (33.3) |
| Three actionablea phenotypes | 7 (7.1) |
a
Actionable phenotype is defined by whether a therapeutic action per CPIC guidelines is recommended.