Delivering Impact: 39 Months of Pharmacogenomics in Australian Clinical Practice

Kathy

-min read

Background

Pharmacogenomics (PG) testing remains under-utilised in Australia, despite its potential to revolutionise patient care. Our study provides fresh, Australia-specific insights into the perceptions of both patients who’ve undergone PG testing and the clinicians managing their treatment. The goal? To help integrate PG testing into everyday clinical practice.

The Aim

We set out to:

Examine how often drug-gene interactions occur.
Understand how patients and clinicians perceive the utility of PG testing.

Methodology

A retrospective audit was conducted on 100 patients who received PG testing at an Australian public hospital between 2018 and 2021. Surveys were used to capture feedback from both patients and clinicians, focusing on their experience, understanding, and how they used the results.

Key Findings

Medication Impact: 84% of patients were on prescription drugs; 67% of them had actionable drug-gene interactions.
Survey Responses: 25 of 81 patients and 17 of 89 clinicians completed the surveys.
Patient Perspective:
- 68% understood their PG results.
- 48% had medications changed following testing.
- Reported high satisfaction and perceived value.
Clinician Perspective:
- Expressed hesitation due to barriers like lack of training, limited clinical support, test delays, and cost.

Conclusion

There’s a clear divide between patients and clinicians on the value of PG testing. Patients see the benefits and are likely to drive demand, while clinicians must be better equipped to support this shift. As personalised medicine gains momentum, proactive clinician education and system support will be essential.

Highlights of the article

Unlocking Better Outcomes Through Personalised Medicine

In 2018, the NSW Health Commission flagged an opportunity: pharmacogenomics (PG) was under-utilised in mental healthcare. The inquiry recommended prioritising PG testing to improve clinical outcomes. Yet, despite strong clinical support internationally, uptake in Australia remains slow.

To understand why, we explored the views of patients and clinicians already using PG—seeking the barriers, benefits, and practical needs for wider adoption.

Why This Research Matters

Mental health treatment is notoriously trial-and-error. Two-thirds of patients with major depressive disorder don’t achieve remission with initial therapy. Each failed medication step diminishes the chance of success, narrowing a critical treatment window. PG-guided therapy—matching the right drug and dose to an individual’s genetic profile—could change that.

Not only does PG promise better patient outcomes, but it also offers cost-efficiency. Reducing adverse drug reactions (ADRs) and ineffective prescriptions can ease both personal and system-level burdens.

What We Set Out to Discover

Review retrospective data of 100 patients who received PG testing.
Survey both patients and clinicians on their knowledge, attitudes, and perceived utility of PG.
Analyse clinical impact: treatment changes, patient well-being, and healthcare interactions post-testing.

How We Conducted the Study

Period: 1 August 2018 to 30 September 2021
Location: Australian public hospital genetics service
Methods: Descriptive statistics and bar graph analysis of:
- ADRs vs. drug-gene interaction (DGI) data
- Patient and clinician survey responses on PG’s clinical utility

What We Found

67% of tested patients were on medications with actionable DGIs.
Patients overwhelmingly reported that PG improved their medication experiences.
Clinicians—ranging from psychiatrists to GPs—were more cautious or sceptical.
Uptake is likely to be patient-led, but clinicians must be prepared to support the conversation.

What This Means

70% of patients discussed PG results with their GP.
Half of those who adjusted treatment post-testing did so with their GP’s guidance.
This highlights the pivotal role of primary care in scaling PG use.

Looking Forward: Broader Implications

PG has the potential to shift how we approach mental health—moving from guesswork to precision. Economic modelling already shows promise for cost savings, but national adoption will need more than proof of benefit. It will require:

Clinician education and confidence building
System integration and funding models
Ongoing research into whole-of-system impacts

Final Thoughts

Australia has the chance to lead in personalised mental health care. But real progress will come from listening—not just to experts, but to the end users: the patients and the GPs guiding them.

Reference

Kozyra M, Ingelman-Sundberg M, Lauschke VM. Rare genetic variants in cellular transporters, metabolic enzymes, and nuclear receptors can be important determinants of interindividual differences in drug response. Genet Med. 2017;19:20–29. PMID: 27101133 DOI: 10.1038/gim.2016.33
Nebert DW, Zhang G, Vesell ES. From human genetics and genomics to pharmacogenetics and pharmacogenomics: past lessons, future directions. Drug Metab Rev. 2008;40:187–224. PMID: 18464043 DOI: 10.1080/03602530801952864
Haidar CE, Crews KR, Hoffman JM, Relling MV, Caudle KE. Advancing Pharmacogenomics from Single-Gene to Preemptive Testing. Annu Rev Genomics Hum Genet. 2022;23:449–473. PMID: 35537468 DOI: 10.1146/annurev-genom-111621-102737
Rogausch A, Prause D, Schallenberg A, Brockmöller J, Himmel W. Patients’ and physicians’ perspectives on pharmacogenetic testing. Pharmacogenomics. 2006;7:49–59. PMID: 16354124 DOI: 10.2217/14622416.7.1.49
Haddy CA, Ward HM, Angley MT, McKinnon RA. Consumers’ views of pharmacogenetics–A qualitative study. Res Social Adm Pharm. 2010;6:221–231. PMID: 20813335 DOI: 10.1016/j.sapharm.2009.08.002
Olson JE, et al. Participant-perceived understanding and perspectives on pharmacogenomics: the Mayo Clinic RIGHT protocol. Genet Med. 2017;19:819–825. PMID: 28055020 DOI: 10.1038/gim.2016.192
St Sauver JL, et al. Integrating Pharmacogenomics into Clinical Practice: Promise vs Reality. Am J Med. 2016;129:1093–1099.e1. PMID: 27155109 DOI: 10.1016/j.amjmed.2016.04.009
Söyletir G, et al. [Prevalence of anti-delta antibodies in HBsAg carriers]. Mikrobiyol Bul. 1989;23:97–101. PMID: 2626106
Green JS, et al. Pharmacogenomics instruction in US and Canadian medical schools: implications for personalized medicine. Pharmacogenomics. 2010;11:1331–1340. PMID: 20860470 DOI: 10.2217/pgs.10.122
Rohrer Vitek CR, et al. Pharmacogenomics education and perceptions: is there a gap between internal medicine resident and attending physicians? Pharmacogenomics. 2021;22:195–201. PMID: 33538610 DOI: 10.2217/pgs-2020-0141
Nicholson WT, et al. Considerations When Applying Pharmacogenomics to Your Practice. Mayo Clin Proc. 2021;96:218–230. PMID: 33308868 DOI: 10.1016/j.mayocp.2020.03.011
Amara N, et al. On the readiness of physicians for pharmacogenomics testing: an empirical assessment. Pharmacogenomics J. 2018;18:308–318. PMID: 28607504 DOI: 10.1038/tpj.2017.22
Shugg T, et al. Prevalence and types of inconsistencies in clinical pharmacogenetic recommendations among major U.S. sources. NPJ Genom Med. 2020;5:48. PMID: 33145028 DOI: 10.1038/s41525-020-00156-7
Guo C, et al. A Survey of Pharmacogenomics Testing Among Physicians, Pharmacists, and Researchers From China. Front Pharmacol. 2021;12:682020. PMID: 34322018 DOI: 10.3389/fphar.2021.682020
Suppiah V, et al. Community pharmacists and their role in pharmacogenomics testing: an Australian perspective. Aust J Prim Health. 2018;24:441–447. PMID: 30409245 DOI: 10.1071/PY18047
Public Accounts Committee. Inquiry into the management of health care delivery in NSW. 2018. Available here
O’Shea R, et al. Precision medicine in Australia: now is the time to get it right. Med J Aust. 2022;217:559–563. PMID: 36436133 DOI: 10.5694/mja2.51777
Alshabeeb MA, et al. Pharmacogenes that demonstrate high association evidence according to CPIC, DPWG, and PharmGKB. Front Med (Lausanne). 2022;9:1001876. PMID: 36388934 DOI: 10.3389/fmed.2022.1001876
Flesch-Kincaid Readability Calculator. [Accessed July 20, 2022]. https://goodcalculators.com/flesch-kincaid-calculator/
US Department of Health and Human Services. CPIC Guidelines. [Accessed November 7, 2022]. https://cpicpgx.org/guidelines/
Krebs K, Milani L. Translating pharmacogenomics into clinical decisions: do not let the perfect be the enemy of the good. Hum Genomics. 2019;13:39. PMID: 31455423 DOI: 10.1186/s40246-019-0229-z
White C, et al. Pharmacogenomics in the era of personalised medicine. Med J Aust. 2022;217:510–513. PMID: 36259142 DOI: 10.5694/mja2.51759
Christian C, et al. Pharmacogenomic-Based Decision Support to Predict Adherence to Medications. Clin Pharmacol Ther. 2020;108:368–376. PMID: 32236960 DOI: 10.1002/cpt.1838
Unertl KM, et al. Clinician Perspectives on Using Pharmacogenomics in Clinical Practice. Per Med. 2015;12:339–347. PMID: 26635887 DOI: 10.2217/pme.15.10
Haga SB, et al. Primary care physicians’ knowledge of and experience with pharmacogenetic testing. Clin Genet. 2012;82:388–394. PMID: 22698141 DOI: 10.1111/j.1399-0004.2012.01908.x
Aquilante CL, et al. Clinical implementation of pharmacogenomics via a health system-wide research biobank: the University of Colorado experience. Pharmacogenomics. 2020;21:375–386. PMID: 32077359 DOI: 10.2217/pgs-2020-0007
Dunnenberger HM, et al. Implementation of a multidisciplinary pharmacogenomics clinic in a community health system. Am J Health Syst Pharm. 2016;73:1956–1966. PMID: 27864203 DOI: 10.2146/ajhp160072
Caraballo PJ, et al. Multidisciplinary model to implement pharmacogenomics at the point of care. Genet Med. 2017;19:421–429. PMID: 27657685 DOI: 10.1038/gim.2016.120
Pearce A, et al. Pharmacogenomic testing: perception of clinical utility, enablers and barriers to adoption in Australian hospitals. Intern Med J. 2022;52:1135–1143. PMID: 35191159 DOI: 10.1111/imj.15719
Verbelen M, et al. Cost-effectiveness of pharmacogenetic-guided treatment: are we there yet? Pharmacogenomics J. 2017;17:395–402. PMID: 28607506 DOI: 10.1038/tpj.2017.21
Zhu Y, et al. Systematic review of the evidence on the cost-effectiveness of pharmacogenomics-guided treatment for cardiovascular diseases. Genet Med. 2020;22:475–486. PMID: 31591509 DOI: 10.1038/s41436-019-0667-y
Tanner JA, et al. Cost-effectiveness of combinatorial pharmacogenomic testing for depression from the Canadian public payer perspective. Pharmacogenomics. 2020;21:521–531. PMID: 32301648 DOI: 10.2217/pgs-2020-0012
Wu M-J, Zhao K, Fils-Aime F. Response rates of online surveys in published research: A meta-analysis. Com in Hum Beh Rep. 2022;7:100206. DOI: 10.1016/j.chbr.2022.100206
Taber K. The use of Cronbach’s Alpha when developing and reporting research instruments in science education. Res Sci Educ. 2018;48:1273–1296. DOI: 10.1007/s11165-016-9602-2

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