Pharmacogenomic clinical evidence

Pillcheck is an advanced precision medicine service that integrates pharmacogenomic (PGx) and lifestyle factors to provide clinically actionable recommendations. Multiple studies show that DNA-guided prescribing reduces adverse drug events by approximately 30% and improves health outcomes.

The clinical resources below feature studies demonstrating the clinical validity and health and economic utility of Pillcheck-guided pharmacotherapy for various clinical conditions and settings. These studies are published in peer-reviewed journals and show findings consistent with other clinical studies of PGx-guided prescribing.

Learn more about the PGx guidelines we follow.

Clinical resources

Mental health Multiple medications (polypharmacy) Chronic disease management Implementation of pharmacogenomics in practice

Mental health

Meta-analysis demonstrates that PGx-guided treatment improves depression remission rates by 37% (Milosavljević F et al., 2024).

Improvements associated with PGx-guided care are achieved by avoiding or slowing the transition to refractory (treatment-resistant) depression. Health-economic analyses indicate that incremental testing costs would be offset within about two years of implementation at an average price of $595 CAD. (Ghanbarian S et al., 2023).

Pillcheck technology was utilized in clinical trial NCT03591224, a prospective, single‐blind, randomized controlled study that evaluated the impact of pharmacogenomics-guided therapy versus standard antidepressant treatment of depression and anxiety. (Papastergiou J et al., 2021)

It was implemented in three large community pharmacies. 213 patients diagnosed with mild-moderate major depressive disorder and/or generalized anxiety disorder were randomized to receive pharmacogenomics-guided (n = 105) or standard antidepressant treatment (n = 108).

Patient-reported outcomes of depression, anxiety, disability, and treatment satisfaction were assessed at months 0, 1, 3, and 6.

Key findings:

All clinical outcomes improved significantly.

Control Group

Standard care with usual drug therapy optimization

PGx Group

Standard care and pharmacogenetics-based drug therapy optimization

Severity of Depression PHQ-9

Generalized Anxiety Disorder GAD7

Sheehan disability scale SDS

The scores for depression, generalized anxiety and disability showed that participants who received pharmacogenomics-guided treatment improved faster than participants who received standard treatment.

The results of the Pillcheck study are congruent with other studies of patients treated for depression and anxiety and receiving DNA-guided therapy within 24 weeks of treatment initiation. Earlier PGx testing helps avoid multiple drug trials and reaches optimal therapeutic selection and dosage range sooner.

PGx-guided medication therapy reduces reliance on talk therapy and other non-drug treatments. Sensitivity analyses estimated that the costs of pharmacogenomic testing would be offset within about 2 years of implementation, given an average price of $630 CAD.

Related publications:
- Bousman CA et al., Encountering Pharmacogenetic Test Results in the Psychiatric Clinic The Canadian Journal of Psychiatry 67 (2), 95-100, 2022.
- Wynn G et al., Pharmacogenomics: A primer for the military mental health provider Journal of Military, Veteran and Family Health. 2019-0027 6(Suppl 1) 2020.
- Ghanbarian S et al., Cost-effectiveness of pharmacogenomic-guided treatment for major depression. 2023 Nov 14;195(44):E1499-E1508.
Multiple medications (polypharmacy)

Each additional medication a person takes increases the risk of side effects or medication not working.
- Papastergiou et al., The Innovative Canadian Pharmacogenomic Screening Initiative in Community Pharmacy (ICANPIC) study. Am Pharm Assoc (2003). 2017 Sep-Oct;57(5):624-629.
One hundred patients were enrolled in the study. The average age was 56.7 years, and patients took a mean of 4.9 chronic medications. Pharmacists cited the most common reasons for testing as ineffective therapy (43.0%), to address an adverse reaction (32.6%), and to guide initiation of therapy (10.4%).

Switch drug
60.3%
Increase monitoring
22.1%
Adjust dosage
13.2%
Discontinue drug
4.2%

Key findings:

The Pillcheck-guided medication review identified double (2x) the number of drug therapy problems compared to standard pharmacist assessment. An average of 1.3 drug therapy problems directly related to pharmacogenomic findings were identified per patient. Pillcheck suggestions led to changes in therapy, dose adjustment or discontinuation of a drug to improve treatment tolerability and response.

Related publications:
- Dong OM et al., Veterans Affairs Pharmacogenomic Testing for Veterans (PHASER) clinical program. Pharmacogenomics. 2021 Feb;22(3):137-144.
- Swen JJ et al. and Ubiquitous Pharmacogenomics Consortium.A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study. Lancet. 2023 Feb 4;401(10374):347-356.
Chronic disease management

The age-related burden of chronic diseases can be challenging to manage.
- Dorfman R at al., Individualized medication management in Ontario long-term care clinical impact on management of depression, pain, and dementia Journal of the American Medical Directors Association 21 (6), 823-829. e5; 2020.
Prescription patterns of 90 nursing home residents recruited for DNA-guided therapy management were compared with 895 controls. Study participants were on 7 to 47 drugs, with PGx indications ranging from 1 to 17 medications.

A

B

Key findings:

The pharmacogenetic analysis identified 114 distinct drug therapy problems in the 90 study participants, of which 29 were classified as serious. 64% of residents who were treated with antidepressants have altered CYP2C19 or CYP2D6 metabolism and could benefit from a drug dose adjustment or switch to alternative antidepressants. 30% of residents treated with hydromorphone have reduced response to opioids because of variations in the OPRM1 gene. This study demonstrated the clinical role of PGx-based medication optimization for polypharmacy impacting the management of depression, chronic pain, heart disease, and gastrointestinal symptoms.

Related publications:
- Swen JJ et al. A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study. Lancet. 2023; 401: 347-356.
- Agulló L et al., Pharmacogenetic Guided Opioid Therapy Improves Chronic Pain Outcomes and Comorbid Mental Health: A Randomized, Double-Blind, Controlled Study. Int J Mol Sci. 2023 Jun 28;24(13):10754.
- Smith DM et al., CYP2D6-guided opioid therapy improves pain control in CYP2D6 intermediate and poor metabolizers: a pragmatic clinical trial. Genet Med. 2019 Aug;21(8):1842-1850
- Ingelman-Sundberg M et al., Precision medicine in cardiovascular therapeutics: Evaluating the role of pharmacogenetic analysis prior to drug treatment., J Intern Med. 2024 Feb 11. doi: 10.1111/joim.1377.
- Dorfman R et al., Application of personalized medicine to chronic disease: a feasibility assessment Clinical and Translational Medicine 2 (1 ), 1-11 2013.
Implementation of pharmacogenomics in practice

Pillcheck was the first platform combining DNA analysis with clinical pharmacy services, and we remain leaders in the field. Our team developed Pillcheck’s technology architecture to address the demand for rapid deployment, flexible configuration, and evolving precision medicine programs over time based on data analysis.

Key considerations in selecting a pharmacogenomic platform. Pillcheck is a multi-lingual software-enabled service. It integrates expert pharmacist reviews and delivers the consistent application of precision medicine insights for individuals, businesses, and healthcare providers.
- Bousman CA et al., Encountering Pharmacogenetic Test Results in the Psychiatric Clinic The Canadian Journal of Psychiatry 67 (2), 95-100, 2022.
- Mukerjee G et al., User considerations in assessing pharmacogenomic tests and their clinical support tools NPJ genomic medicine 3 (1), 1-9;.
Pillcheck-based medication management improves return to work of individuals on disability claims. Leading workplace benefits providers in Canada utilize the Pillcheck service in disability case management.
- Lefaivre A et al., Pharmacogenetic Testing May Improve Drug Treatments and Shorten Disability Leaves Benefits Quarterly 33 (1), 43-49 2017.
Ensuring equitable access to innovative technology, continuous updates, utilization, and secure sharing with healthcare providers are among the key factors contributing to precision medicine programs' positive health and economic impact.
- Mitropoulou C et al., PARC report: health outcomes and value of personalized medicine interventions: impact on patient care Review Pharmacogenomics. 2020 Jul;21(11):797-807.