Real-world evidence and landmark studies demonstrating how pharmacogenomics improves clinical outcomes.
30%
Reduction in adverse drug events
40%
Fewer medication switches
$1,700
Average savings per patient/year
99%
Of people carry actionable variants
Sources: PREDICT Study, St. Jude PG4KDS, PREPARE Trial
10,000+ patients • Ongoing since 2010
One of the first large-scale preemptive PGx programs. Integrated genetic testing into EHR with clinical decision support alerts.
Key Findings:
Pediatric Oncology • Since 2011
Pharmacogenomics for Kids Drug Safety program. Preemptive testing for all pediatric cancer patients to prevent adverse events.
Key Findings:
6,944 patients • 7 European Countries • 2023
Largest randomized controlled trial of preemptive PGx testing. 12-gene panel across multiple therapeutic areas.
Key Findings:
Right Drug, Right Dose, Right Time
Integrated PGx testing into primary care workflow. Demonstrated feasibility of large-scale implementation in routine practice.
Key Findings:
Patient failed 3 SSRIs over 18 months with intolerable side effects or lack of efficacy.
PGx Finding
CYP2D6: Ultra-rapid metabolizer
Patient metabolizes standard doses too quickly, never reaching therapeutic levels.
Clinical Action
Switched to escitalopram (CYP2C19-metabolized)
Achieved remission within 8 weeks
62-year-old patient receiving coronary stent. Standard protocol: clopidogrel 75mg daily.
PGx Finding
CYP2C19: *2/*2 (Poor Metabolizer)
Cannot activate clopidogrel prodrug. High risk of stent thrombosis.
Clinical Action
Prescribed ticagrelor (not CYP2C19 dependent)
No cardiovascular events at 1 year
Patient scheduled for knee replacement. Opioid-based pain management planned.
PGx Finding
CYP2D6: *1/*1xN (Ultra-rapid)
Rapidly converts codeine → morphine. High risk of respiratory depression.
Clinical Action
Avoided codeine/tramadol. Used morphine with careful dosing.
Safe, effective pain control achieved
58-year-old patient starting 5-fluorouracil (5-FU) based chemotherapy regimen.
PGx Finding
DPYD: *2A heterozygous
Reduced DPD enzyme activity. High risk of severe/fatal fluoropyrimidine toxicity.
Clinical Action
Started at 50% dose reduction per CPIC guidelines
Completed therapy without severe toxicity
New HIV diagnosis. Abacavir-containing regimen being considered.
PGx Finding
HLA-B*57:01: Positive
5-8% risk of severe, potentially fatal hypersensitivity reaction to abacavir.
Clinical Action
Abacavir contraindicated. Alternative NRTI selected.
Hypersensitivity reaction prevented
PREPARE study demonstrated 30% reduction in clinically relevant adverse drug reactions with preemptive PGx panel.
Swen et al., Lancet 2023;401:1085-1095
CYP2C19-guided antiplatelet therapy reduced major cardiovascular events in acute coronary syndrome patients.
Claassens et al., JAMA 2019;322:1-8
CPIC guidelines now cover 25+ gene-drug pairs with evidence-based dosing recommendations.
Relling et al., Clin Pharmacol Ther 2021
HLA-B*57:01 testing before abacavir virtually eliminated hypersensitivity reactions in HIV patients.
Mallal et al., N Engl J Med 2008;358:568-79
Economic analysis showed PGx-guided prescribing saves $916-$4,382 per patient over 5 years.
Verbelen et al., Genetics in Medicine
PGx-guided antidepressant selection improved remission rates by 50% in treatment-resistant depression.
Greden et al., J Clin Psychiatry
The evidence is clear: pharmacogenomics improves outcomes and reduces harm.
Clinician Resources