Clinical outcome studies show cost savings and improved patient outcomes with pharmacogenetics in cardiovascular and mental health as well as in other areas including infectious disease, long term care, and adverse drug reactions
Cardiovascular
Antiplatelet post-MI
Notarangelo et al 2018. PMID 29540324
Over 12 months, CV death/MI/stroke/major bleeding occurred in 15.9% of patients in the PGx arm and in 25.9% in the standard-of-care arm (HR 0.58; 95% confidence interval: 0.43 to 0.78; p < 0.001).
Statin adherence
Charland et al 2014. PMID: 23979174
PGx testing led to clinically meaningful and statistically higher measures of 6-month statin adherence and persistence.
Clopidogrel & CYP2C19
Mega et al 2010. PMID: 20978260
Carriers of 1 or 2 reduced-function CYP2C19 alleles vs non-carriers had a significantly increased risk of CV death, MI, or stroke (HR, 1.57; 95% CI, 1.13-2.16; P=.006).
Mental Health
Major Depressive Disorder
Maciel et al 2018. PMID: 29386895
Per-patient savings of USD$5962 with PGx-guided medication management.
Depression & Anxiety
Bradley et al 2018. PMID: 28992526
Significant difference in response & remission for severe depression at 12 weeks (73% vs 36% and 35% vs 13%, respectively); anxiety response rate also significantly higher at 12 weeks (63% vs 50%).
Infectious Disease
Abacavir & HLA-B*5701
Moaddeb et al 2013. PMID: 24020014
The incidence of clinically-diagnosed hypersensitivity reaction was reduced by 56% and immunologically-confirmed hypersensitivity reaction was reduced by 100% with HLA-B*5701 screening vs no screening.
Long Term Care
Post-Discharge
Elliot et al 2017. PMID: 28151991
PGx testing in patients aged 50 and older, supported by a clinical decision support tool, considerably reduced re-hospitalizations (mean number 0.33 vs 0.70) and ED visits (mean number 0.39 vs 0.66) at 60 days following enrollment.
Polypharmacy
Brixner et al 2016. PMID: 26478982
PGx testing for CYP genes in patients >65 decreased hospitalizations (9.8% in the tested group vs. 16.1%) and ED visits (4.4% in th tested group vs. 15.4%). Mean potential cost savings estimated at $218.
Adverse Drug Reactions
Neurosychiatric conditions
Olsen et al 2017. PMID: 28314093
More than half (53%) of patients in the control group reported at least 1 adverse drug event compared to 28% of patients with PGx-guided medication management (P = .001). No difference in efficacy.