https://orcid.org/0000-0003-4616-2534
Abstract
Purpose
Pharmacogenetics (PGx) is an emerging aspect of personalized medicine with the potential to increase efficacy and safety of pharmacotherapy. However, PGx testing is still not routinely integrated into clinical practice. We conducted an observational case series study where PGx information from a commercially available panel test covering 30 genes was integrated into medication reviews. The aim of the study was to identify the drugs that are most frequently object of drug-gene-interactions (DGI) in the study population.
Patients and Methods
In out-patient and in-patient settings, we recruited 142 patients experiencing adverse drug reaction (ADR) and/or therapy failure (TF). Collected anonymized data from the individual patient was harmonized and transferred to a structured database.
Results
The majority of the patients had a main diagnosis of a mental or behavioral disorder (ICD-10: F, 61%), of musculoskeletal system and connective tissue diseases (ICD-10: M, 21%), and of the circulatory system (ICD-10: I, 11%). The number of prescribed medicines reached a median of 7 per person, resulting in a majority of patients with polypharmacy (≥5 prescribed medicines, 65%). In total, 559 suspected DGI were identified in 142 patients. After genetic testing, an association with at least one genetic variation was confirmed for 324 suspected DGI (58%) caused by 64 different drugs and 21 different genes in 141 patients. After 6 months, PGx-based medication adjustments were recorded for 62% of the study population, whereby differences were identified in subgroups.
Conclusion
The data analysis from this study provides valuable insights for the main focus of further research in the context of PGx. The results indicate that most of the selected patients in our sample represent suitable target groups for PGx panel testing in clinical practice, notably those taking drugs for mental or behavioral disorder, circulatory diseases, immunological diseases, pain-related diseases, and patients experiencing polypharmacy.
Data Sharing Statement
The patient data including genetic data presented in this study are available on request from the corresponding author. The data are not publicly available for ethical and privacy reasons.
Ethics Statement
The observational study “Pharmacogenetic Testing of Patients with unwanted Adverse Drug Reactions or Therapy Failure” was conducted according to the guidelines of the Declaration of Helsinki and was approved by the local ethics committee of “Ethikkommission Nordwest- und Zentralschweiz” (2019-01452, 31.10.2019).
Informed Consent Statement
All study patients provided written informed consent to use the data for research purposes, as well as for publishing.
Acknowledgments
We want to acknowledge all involved parties contributing to the research project: the patients for study participation; the physicians for patient referral, discussions and feedback; the study pharmacists for conducting the study procedure; the research project students for supporting data preparation; the laboratory staff for blood sample preparation; the members of the Biopharmacy Research Laboratory for performing additional genotyping; and humatrix AG for the collaborative effort.
Author Contributions
All authors made a significant contribution to the work reported, whether that is in the conception, study design, execution, acquisition of data, analysis and interpretation, or in all these areas; took part in drafting, revising or critically reviewing the article; gave final approval of the version to be published; have agreed on the submitted journal Pharmacogenomics and Personalized Medicine; and agree to be accountable for all aspects of the work.
Disclosure
The authors report no conflicts of interest in this work.