Abstract
Tamoxifen is a drug that is often used in the clinical management of breast cancer. CYP2D6 is a key metabolizing enzyme that is involved in the conversion of tamoxifen to its active drug metabolites. CYP2D6 has several alleles that metabolize tamoxifen and other drugs at different rates that can alter therapeutic impact, a characteristic that renders it one of the most studied enzymes in the field of pharmacogenetics. Background and objectives: Portugal has no implemented measures based on pharmacogenomics analysis prior to therapy that might function as a cultural sample control when analyzing the individual and economic factors present in clinical practice paradigms. Therefore, we aim to investigate the impact of CYP2D6 genotyping of the tamoxifen metabolizing enzymes in the clinical management of breast cancer patients. Materials and Methods: Qualitative/quantitative studies regarding the impact of pharmacogenomics in breast cancer; personal interviews in different Portuguese laboratories within hospital setting using a survey. Analysis of data through interviews to management board and/or decision makers from major oncological centers. Results: Reasons for common adoption of pharmacogenomics practice are contradictory and based both in economic factors and cultural/clinical bias. Conclusions: This research study identifies specific cultural and/or clinical bias that act as obstacles to pharmacogenomic implementation and proposes viable courses of action that might bring about change in cultural/medical habits.
Highlights
Individual genetic characteristics are known to influence drug response
It should be noted that the costliest implementation of CYP2D6 testing, the LAB21 (Cambridge, UK), included the use of TaqMan®, along with Luminex® and sequencing, which could account for the difference in price
Fleeman et al intended to clarify the current clinical practice regarding CYP2D6 testing for patients treated with tamoxifen, choosing to apply a questionnaire to laboratories recognized as offering these specific testing options [37]
Summary
Individual genetic characteristics are known to influence drug response. Therapeutic doses concentration in the blood are influenced by genetic matrix, causing extremely high or extremely low scenarios, and leading to serious side effects, including death [3]. Single gene analysis is performed by pharmacogenetic studies, to assess the influence of genetic factors. Pharmacogenetic tests are used to detect the presence or absence of mutation in a given gene or chromosome. Despite the reliability of such tests, it has been well established that the pharmacological response of a particular drug may be due to a single gene but to a large number of genes [4]. The study of a full set of genes with pharmacological relevance emerged as Medicina 2019, 55, 344; doi:10.3390/medicina55070344 www.mdpi.com/journal/medicina
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