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Integrating a pre-emptive pharmacogenetics approach into routine clinical practice

Integrating a pre-emptive pharmacogenetics approach into routine clinical practice

The Colorado Center for Personalized Medicine (CCPM), USA

Over the past decade, healthcare systems around the world have been moving towards incorporating genomic data into routine clinical practice, some taking advantage of the wealth of information contained in large research biobanks. This includes the practice of pharmacogenetics, which is a form of personalized or precision medicine. In this practice, genetic and clinical data are combined to inform drug selection and dosing, helping to minimize ‘trial and error’ approaches to prescribing drugs. This shift has received support from evidence-based clinical practice guidelines (2-4).

The Colorado Center for Personalized Medicine (CCPM) is one pioneer of world-class pharmacogenetics services. CCPM is a multi-disciplinary enterprise based at the University of Colorado’s Anschutz Medical Campus in the USA, a collaboration between the University of Colorado School of Medicine and UCHealth. CCPM’s mission is to advance the health of patients, families, and communities by integrating patient health records and bioinformatics to deliver tailored treatments for disease. CCPM works closely with UCHealth, an innovative, non-profit health system focused on delivering high-quality medical care with an excellent patient experience. UCHealth includes 25,000 employees, 12 acute-care full-service hospitals and hundreds of physicians across Colorado, southern Wyoming and western Nebraska. With University of Colorado Hospital on the CU Anschutz Medical Campus as its academic anchor and the only adult academic medical center in the region, UCHealth is dedicated to providing unmatched patient care in the Rocky Mountain West. Offering more than 150 clinic locations, UCHealth pushes the boundaries of medicine, providing advanced treatments and clinical trials and improving health through innovation.

CCPM has been one of the first institutions globally to successfully set up and execute a ‘pre-emptive’ return of clinical pharmacogenetic results model under the umbrella of a research biobank. The biobank at CCPM in partnership with UCHealth has over 200,000 participants who have consented to have genetic data generated from dedicated sample collections and used to facilitate research and discoveries in personalized medicine. Clinical pharmacogenetic results from biobank participants are integrated into the healthcare system’s electronic health record (EHR) in advance of needing them in clinical care (5). This contrasts with ‘reactive’ testing approaches, in which pharmacogenetic testing occurs after a decision is made to prescribe a medication or in response to an adverse drug reaction or poor drug response (6).

“Within pharmacogenomics, it’s been a big challenge for healthcare systems to integrate clinical genomic data, into EHRs in a discrete and structured way. Working closely with BC Platforms has enabled us to do this at scale under the auspices of a large research biobank. We have integrated clinical pharmacogenetic data into the EHR and coupled that with CDS tools such that clinicians are notified of important drug-gene interactions at the point of prescribing – with the goal of improving healthcare for patients.”

Dr Christina Aquilante, PharmD, Professor, University of Colorado Skaggs School of Pharmacy and Pharmaceutical Sciences, and Director of Pharmacogenomics, CCPM

Pharmacogenetic data include results for a pre-existing panel of pharmacovariants across several genes, which are then made accessible in the EHR. Clinicians are made aware of relevant drug-gene interactions at the point-of-prescribing via automated clinical decision support (CDS) tools. At CCPM, management of biobank research data and integration of clinical pharmacogenetic results in the EHR has benefitted from the skills of a dedicated team working in partnership with BC Platforms, a leading provider of data and technology platforms for personalized medicine and drug development.

CCPM has been collaborating with BC Platforms for over 5 years, supporting its analytic pipeline over this time. Since 2015, BC Platforms has been working with CCPM to develop its biobank and provide its own data management platform.

Today, the biobank at CCPM is one of the largest in the US. Within the platform, each interface has required dedicated effort to develop and test the return of results, maintain linkage with patient identifiers, and implement security protocols to comply with the Health Insurance Portability and Accountability Act (HIPAA).

Getting data into a hospital’s EHR can be a major barrier to implementation. Working with BC Platforms, the partnership enabled the building of interfaces – designing and executing the necessary workflow architecture that allows genotyping results from the biobank laboratory to file into the EHR as discrete components. In turn, CDS tools are built to be activated by these results – providing clinicians the genetic result, phenotypic interpretation, and associated clinical recommendations at the right time in their workflow. The tools that have been integrated into the UCHealth Epic system currently report on up to twenty different drugs such as clopidogrel and fluoropyrimidines.

With over 7,100 biobank participants to-date who have had data returned to UCHealth’s EHR and ‘patient portal’, CCPM has had close to 900 drug-gene interaction clinical decision support alerts for over 750 patients.

Working together to align clinical workflows and deploy innovative, pre-emptive genotyping and EHR integration, BC Platforms has been a critical partner in enabling world-leading, advanced clinical care at scale.

“The severity of adverse drug-gene interactions is a spectrum. If you get the drug wrong, it might have a slight risk of being mildly adverse for some patients, while for other patients it could be fatal. The ability to potentially save patients’ lives, and/or improving their quality of life has a substantial impact in our experience and healthcare provision, no matter how small the number or overall percentage. Working with BC Platforms has helped us integrate genetic data into the EHR so that we then could develop effective, intelligent CDS tools that fit seamlessly into a clinician’s workflow, so that pharmacogenetic-related alerts in our EHR improve, not disrupt, the delivery of efficient, accurate, and safe clinical care at scale.”

Dr David Kao, MD, Associate Professor of Medicine-Cardiology at the University of Colorado, and Medical Director, CCPM

References
1. Relling MV, Evans WE. Pharmacogenomics in the clinic. Nature 526(7573), 343–350 (2015).
2. Relling MV, Klein TE, Gammal RS, Whirl-Carrillo M, Hoffman JM, Caudle KE. The Clinical Pharmacogenetics Implementation Consortium: 10 years later. Clin. Pharmacol. Ther. 107(1), 171–175 (2019).
3. Caudle KE, Klein TE, Hoffman JM et al. Incorporation of pharmacogenomics into routine clinical practice: the Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline development process. Curr. Drug Metab. 15(2), 209–217 (2014).
4. Relling MV, Klein TE. CPIC: Clinical Pharmacogenetics Implementation Consortium of the pharmacogenomics research network. Clin. Pharmacol. Ther. 89(3), 464–467 (2011).
5. Dunnenberger HM, Crews KR, Hoffman JM et al. Preemptive clinical pharmacogenetics implementation: current programs in five US medical centers. Annu. Rev. Pharmacol. Toxicol. 55, 89–106 (2015).
6. Duarte JD, Dalton R, Elchynski AL, et al. Multisite investigation of strategies for the clinical implementation of pre-emptive pharmacogenetic testing. Genet Med. 23(12), 2335-2341 (2021).