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Implementation of a multidisciplinary personalised medicine unit for pharmacogenetic testing

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European Statement

Clinical Pharmacy Services

Author(s)

Jorge Fernández-Fradejas, Matías Morín-Rodríguez, Eva Delgado-Silveira, Miguel Ángel Moreno-Pelayo, Ana María Álvarez-Díaz

Why was it done?

There is an increasing number of gene-drug interactions that have the potential to predict patient response. Although the study of some genetic variants can be a useful tool to achieve a safer and more effective pharmacotherapy, the integration of personalised medicine in clinical practice has been challenging over the years, mainly due to prescriber’s scepticism and lack of clinical guidelines and protocols.

What was done?

We have implemented a multidisciplinary Personalised Medicine Unit (PMU) at a third- level hospital to facilitate preemptive pharmacogenetic testing.

How was it done?

The PMU provides its service with the involvement of Pharmacy and Genetics Department according to the following workflow:
1. Physicians order the pharmacogenetic test in the first contact with a patient expected to be treated with a drug with an available pharmacogenetic test.
2. A peripheral blood sample is drawn for DNA extraction and analysed by the Genetics Department.
3. An integrated pharmacogenetics report is generated and uploaded to the patient’s electronic medical record. This report contains the molecular information and its interpretation (responsibility of Genetics Department) and the clinical pharmacotherapeutic recommendation according to the results obtained (responsibility of Pharmacy Department). Dose adjustment recommendations follow the Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines and Dutch Pharmacogenomics Working Group (DPWG) guidelines.
4. Pharmacy Department follows up pharmacotherapeutic recommendation acceptance and clinical outcomes.

What has been achieved?

Since July 2021 we have implemented pharmacogenetic testing for seven drug-gene interactions:
July 2021. CYP2C9 – Siponimod.
November 2021. DPYD – Fluoropyrimidines (capecitabine, fluorouracil, tegafur).
April 2022. UGT1A1 – Irinotecan, liposomal pegylated irinotecan, sacituzumab govitecan.
Three hundred and seventy patients have benefited from pharmacogenetics testing. These tests have been requested by three different clinical departments and had a mean turnaround time of less than 10 days, preventing any potential treatment delays. An integrated Pharmacy-Genetics report with individualised pharmacotherapeutic recommendations was generated for every patient. These recommendations had an acceptance rate of 100%.

What next?

Since the creation of the PMU, we have been able to implement pharmacogenetic testing in clinical practice with a high level of acceptance. Our next challenges are introducing next- generation sequencing for the study of new gene-drug interactions in the unit portfolio and achieve a deeper integration of pharmacogenetic information in clinical decision support systems.

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