Table 6.
Genotype-predicted phenotypes based on genotyping reference standard and Aldy v4.4 results, including whether patients were prescribed actionable medications since their respective dates of first cancer diagnosis.
| Patient ID | Follow up (years)* |
Gene | Genotyping Panel | Aldy v4.4 | Actionable Medications (# of prescriptions)+ | ||
|---|---|---|---|---|---|---|---|
| Diplotype | Phenotype | Diplotype | Phenotype | ||||
| WGS29 | 13.8 | DPYD | *1/*1 | NM (AS=2.0) | *5+rs1801265/*HapB3: *9/*HapB3+rs1801159 | IM (AS=1.5) | Fluorouracil (1) |
| WGS34 | 3.1 | DPYD | *1/*1 | NM (AS=2.0) | *9/*HapB3 | IM (AS=1.5) | Fluorouracil (20) |
| WGS41 | 5.4 | CYP2C19 | *1/*2 | IM | *2/*35 | PM | None |
| WGS45 | 8.8 | DPYD | *1/*1 | NM (AS=2.0) | *1/*7 | IM (AS=1.0) | None |
| WGS53 | 11.5 | NUDT15 | *1/*1 | NM | *1/*9 | IM | None |
| WGS54 | 2.9 | DPYD | *1/*1 | NM (AS=2.0) | *9+rs2297595/*9+rs115232898 | IM (AS=1.5) | Capecitabine (1) |
| SLCO1B1 | *1/*1 | NF | *31/*37 | DF | |||
| WGS56 | 4.7 | DPYD | *1/*1 | NM (AS=2.0) | *HapB3/*rs17376848 | IM (AS=1.5) | No Data |
| WGS62 | 2.9 | CYP2C19 | *1/*1 | NM | *1/*9 | Likely IM | No Data |
| WGS73 | 2.6 | DPYD | *1/*1 | NM (AS=2.0) | *9/*HapB3 | IM (AS=1.5) | No Data |
| WGS77 | 7.4 | DPYD | *1/*1 | NM (AS=2.0) | *9+rs1801159/*rs67376798 | IM (AS=1.5) | None |
| WGS93 | 4.9 | DPYD | *1/*1 | NM (AS=2.0) | *rs17376848/*rs67376798 | IM (AS=1.5) | None |
| WGS96 | 2.7 | SLCO1B1 | *1/*1 | NF | *27/*31 | Possibly DF | No Data |
| WGS97 | 4.2 | CYP2C19 | *1/*1 | NM | *1/*35 | IM | No Data |
| WES7 | 9.4 | CYP2D6 | *1/*4 | IM (AS=1.0) | *4.021/*15 | PM (AS=0) | Tramadol (3) |
| WES11 | 1.4 | DPYD | *1/*1 | NM (AS=2.0) | *9+rs56038477/*rs2297595 | IM (AS=1.5) | No Data |
| WES19 | 15.0 | DPYD | *1/*1 | NM (AS=2.0) | *5+rs2297595+rs1801265/*rs67376798 | IM (AS=1.5) | None |
| WES23 | 15.1 | CYP2D6 | *2/*4 | IM (AS=1.0) | *4.021/*59 | IM (AS=0.5) | None |
| WES43 | 12.9 | DPYD | *1/*1 | NM (AS=2.0) | *1+rs56038477/*9 | IM (AS=1.5) | Fluorouracil (10) |
| WES65 | 3.5 | CYP2C19 | *1/*2 | IM | *2/*24 | PM | None |
| WES68 | 1.0 | G6PD | A/A | Normal | *A/*G6PDA-968C_376G | Variable | No Data |
| WES71 | 3.6 | DPYD | *1/*1 | NM (AS=2.0) | *1/*rs67376798 | IM (AS=1.5) | None |
| WES92 | 0.9 | NUDT15 | *1/*1 | NM | *1/*9 | IM | No Data |
| WES93 | 3.9 | SLCO1B1 | *1/*1 | NF | *31/*37 | DF | None |
| WES101 | 2.5 | CYP2D6 | *1/*2 | NM (AS=2.0) | *1/*59 | NM (AS=1.5) | N/A= |
| WES102 | 2.0 | CYP2D6 | *1/*2 | NM (AS=2.0) | *1/*59 | NM (AS=1.5) | No Data; N/A= |
| WES108 | 5.5 | CYP2D6 | *1/*1 | NM (AS=2.0) | *1/*15 | IM (AS=1.0) | None |
| WES124 | 3.0 | DPYD | *1/*1 | NM (AS=2.0) | *1/*rs67376798 | IM (AS=1.5) | None |
| WES128 | 7.7 | CYP2D6 | *1/*41 | NM (AS=1.25) | *41/*62 | IM (AS=0.25) | None |
| WES137 | 15.7 | CYP2B6 | *1/*9 | IM | *8+rs3211371/*9 | PM | None |
| WES154 | 4.2 | SLCO1B1 | *1/*1 | NF | *14/*31 | DF | None |
AS, activity score; DF, decreased function; IM, intermediate metabolizer; N/A, not applicable; NF, normal function; NM, normal metabolizer; No Data, patient medication data was not available after the date of first cancer diagnosis; PM, poor metabolizer.
*Follow up is presented in years and was defined as the amount of time between the patient’s date of cancer diagnosis and the end of the medication data collection period (10/01/2020).
+Medications were defined as “actionable” if current CPIC guidelines provide “strong” or “moderate” recommendations to alter therapy with the medication based on each patient’s Aldy-predicted phenotype (relative to their genotyping-predicted phenotype).
=N/A describes situations in which CPIC guidelines provide identical recommendations for all medications based on the patient’s Aldy-predicted and genotyping-predicted phenotypes.