RESUMEN
The diagnostic process of familial hypercholesterolemia frequently involves the use of genetic studies. Patients are treated with lipid-lowering drugs, frequently statins. Although pharmacogenomic clinical practice guidelines focusing on genotype-based statin prescription have been published, their use in routine clinical practice remains very modest.We have implemented a new NGS strategy that combines a panel of genes related to familial hypercholesterolemia with genomic regions related to the pharmacogenomics of lipid-lowering drugs described in clinical practice guidelines and in EMA and FDA drug labels. A multidisciplinary team of doctors, biologists, and pharmacists creates a clinical report that provides diagnostic and therapeutic findings using a knowledge management and clinical decision support system, as well as an algorithm for treatment selection.For 12 months, a total of 483 genetic diagnostic studies for familial hypercholesterolemia were carried out, of which 221 (45.8%) requested a complementary pharmacogenomic test. Of these 221 patients, 66.5% were carriers of actionable variants in any of the studied pharmacogenomic pathways: 46.6% of patients in one pathway, 19.0% in two pathways, and 0.9% in three pathways. 45.7% of patients could have a response to atorvastatin different from that of the reference population, 45.7% for simvastatin and lovastatin, 29.0% for fluvastatin, and 6.7% patients for pitavastatin.This implementation approach facilitates the incorporation of pharmacogenomic studies in clinical care practice, it does not add complexity nor additional steps to laboratory processes, and improves the pharmacotherapeutic process of patients.
Asunto(s)
Inhibidores de Hidroximetilglutaril-CoA Reductasas , Hiperlipoproteinemia Tipo II , Atorvastatina/uso terapéutico , Humanos , Inhibidores de Hidroximetilglutaril-CoA Reductasas/uso terapéutico , Hiperlipoproteinemia Tipo II/diagnóstico , Hiperlipoproteinemia Tipo II/tratamiento farmacológico , Hiperlipoproteinemia Tipo II/genética , Farmacogenética , Simvastatina/uso terapéuticoRESUMEN
INTRODUCTION: oral chemotherapy is increasingly used in Oncology. It has important advantages. such as patient comfort. but it also brings new challenges which did not exist with the intravenous therapy. Some of these drugs have interactions with food. leading to changes in their bioavailability. As they are drugs of narrow therapeutic margin. this can lead to alterations in their efficacy and/or toxicity. OBJECTIVES: A. Assessing the level of knowledge on the administration of oral cytostatics that present restrictions with meals (drugs that have to be taken with/without food) among the outpatients. B. Minimizing the incorrect administration and the risk of food-drug interactions. providing patients with information as to how and when drugs have to be administrated. METHODS: once the oral cytostatics with food restrictions were identified. we asked the patients in treatment about the information they had received from the doctor and the way they were taking the medication. We provided those who were taking the drug incorrectly with the right information. In the following visit. it was confirmed if the patients that had been previously taking the cytostatic incorrectly. were taking them in a correct way (intervention accepted/not accepted). RESULTS AND CONCLUSIONS: 40% of the patients interviewed used to take the drug incorrectly. We detected a great diversity depending on the dispensed drug. 95% of the 39 interventions made were accepted. The data obtained suggest the need to reinforce the information that the patient receives. It is important to make sure that the patient understands how and when the oral cytostatic should be administered.
Introducción: el uso de citostáticos orales está cada vez más extendido en oncología. Presenta ventajas importantes, como la comodidad para el paciente, pero también supone nuevos retos que no se planteaban con la terapia intravenosa. Algunos de estos fármacos presentan interacciones con los alimentos, dando lugar a cambios en su biodisponibilidad. Al tratarse de fármacos de estrecho margen terapéutico, pueden dar lugar a alteraciones en su eficacia y/o toxicidad. Objetivos: evaluar el nivel de conocimiento sobre el modo de administración por parte de los pacientes que acuden a la consulta de pacientes externos de oncohematología del hospital de aquellos citostáticos orales que presentan alguna restricción respecto a su consumo con alimentos (deben tomarse o bien en ayunas. o bien con alimentos). Minimizar al máximo la administración incorrecta de los citostáticos dispensados y el riesgo de que se produzcan interacciones con los alimentos, proporcionando información a los pacientes acerca del modo correcto de administración. Material y métodos: una vez identificados los citostáticos orales con restricciones respecto a su consumo con alimentos, además de la información aportada por farmacia, se preguntó a los pacientes la información que habían recibido por parte del médico acerca de cómo debía administrarse el fármaco, el modo en que se lo tomaban finalmente y, en caso de no hacerlo adecuadamente, se les reforzó la información pertinente. En el siguiente ciclo se confirmó si efectivamente el paciente se lo administraba correctamente, en caso de hacerlo previamente de forma incorrecta (intervención aceptada/no aceptada). Resultados y conclusiones: un 40% de los pacientes entrevistados se administraban el fármaco incorrectamente. Los resultados muestran una gran diversidad en función del fármaco dispensado. Se realizaron un total de 39 intervenciones, que fueron aceptadas en un 95%. Los datos obtenidos sugieren la necesidad de reforzar la información que el paciente recibe más allá de la primera visita para asegurarnos de que ha comprendido las condiciones en las que el fármaco debe administrarse.