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. 2020 Oct 30;5:48. doi: 10.1038/s41525-020-00156-7

Table 1.

Characteristics of all PGx recommendations and stratified by source of the recommendation.

Strata All PGx Recs (n = 606) Source of PGx Recs P value*
CPG (n = 172) CPIC (n = 66) FDA (n = 368)
# unique drugs 267 91 46 254 n/a
# unique drug–gene pairs 433 172 66 368 n/a
Germline vs. somatic vs. pathogen
Germline 353 (58.3%) 50 (29.1%) 66 (100.0%) 237 (64.4%) <0.001
Somatic 250 (41.3%) 119 (69.2%) 0 (0.0%) 131 (35.6%)
Pathogen 3 (0.5%) 3 (1.7%) 0 (0.0%) 0 (0.0%)
Pharmacokinetic (PK) vs. pharmacodynamic (PD)
PK 190 (31.4%) 22 (12.8%) 40 (60.6%) 128 (34.8%) <0.001
PD 416 (68.7%) 150 (87.2%) 26 (39.4%) 240 (65.2%)
Genetic variant vs. gene/protein expression
Genetic variant 484 (79.9%) 111 (64.5%) 66 (100.0%) 307 (83.4%) <0.001
Gene/protein expression 122 (20.1%) 61 (35.5%) 0 (0.0%) 61 (16.6%)
Therapeutic area (TA)
Anesthetics 38 (6.3%) 14 (8.1%) 14 (21.2%) 10 (2.7%) <0.001
Anti-infectives 19 (3.1%) 3 (1.7%) 1 (1.5%) 15 (4.1%)
Antivirals 26 (4.3%) 4 (2.3%) 6 (9.1%) 16 (4.4%)
Cardiovascular 43 (7.1%) 7 (4.1%) 6 (9.1%) 30 (8.2%)
Hematology 79 (13.0%) 32 (18.6%) 4 (6.1%) 43 (11.7%)
Neurology 33 (5.5%) 2 (1.2%) 5 (7.6%) 26 (7.1%)
Oncology 217 (35.8%) 95 (55.2%) 3 (4.6%) 119 (32.3%)
Other TAs 62 (10.2%) 2 (1.2%) 6 (9.1%) 54 (14.7%)
Psychiatry 65 (10.7%) 10 (5.8%) 18 (27.3%) 37 (10.1%)
Pulmonary 12 (2.0%) 2 (1.2%) 1 (1.5%) 9 (2.5%)
Rheumatology 12 (2.0%) 1 (0.6%) 2 (3.0%) 9 (2.5%)
Recommendation category
Indication 194 (32.0%) 102 (59.3%) 0 (0.0%) 92 (25.0%) <0.001
Contraindication 29 (4.8%) 0 (0.0%) 16 (24.2%) 13 (3.5%)
Not recommended 82 (13.5%) 22 (12.8%) 39 (59.1%) 21 (5.7%)
Dose adjustment 38 (6.3%) 2 (1.2%) 8 (12.1%) 28 (7.6%)
Use with caution 65 (10.7%) 0 (0.0%) 0 (0.0%) 65 (17.7%)
No dose adjustment 17 (2.8%) 2 (1.2%) 0 (0.0%) 15 (4.1%)
Informational (none) 181 (29.9%) 44 (25.6%) 3 (4.6%) 134 (36.4%)
Actionable 408 (67.3%) 126 (73.3%) 63 (95.5%) 219 (59.5%) <0.001
Routine screening 206 (34.0%) 104 (60.5%) n/a 102 (27.8%) <0.001
Quantitative characteristics
Years since publication 0.75 (0.19–1.77) 0.19 (0.19–0.81) 2.46 (0.58–4.04) 0.82 (0.42–1.77) <0.001
Number of variants 0 (0–2) 1 (0–2) 11.5 (6–57) 0 (0–1) <0.001

CPG clinical practice guideline, CPIC Clinical Pharmacogenetics Implementation Consortium, FDA U. S. Food & Drug Administration, PGx pharmacogenetics, Recs recommendations.

Data are presented as count (%) or median (interquartile range).

*P values are for the comparison of CPG vs. CPIC vs. FDA. Bolded P values indicate P < 0.05.