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Combining familial hypercholesterolemia and statin genetic studies as a strategy for the implementation of pharmacogenomics. A multidisciplinary approach

Abstract: 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.

Otras publicaciones de la misma revista o congreso con autores/as de la Universidad de Cantabria

 Fuente: Pharmacogenomics Journal, 2022, 22, 180-187

Editorial: Springer Nature

 Año de publicación: 2022

Nº de páginas: 8

Tipo de publicación: Artículo de Revista

 DOI: 10.1038/s41397-022-00274-8

ISSN: 1470-269X,1473-1150

Autores/as

RAMUDO-CELA, LUIS

SANTANA-MARTÍNEZ, SARA

GARCÍA-RAMOS, MAITE

BERGAMINO, MARIANO

GARCÍA-GIUSTINIANI, DIEGO

VÉLEZ-VIEITEZ, PAULA

GONZÁLEZ-BUSTOS, PABLO

RUÍZ-MARTÍN, PATRICIA

GONZÁLEZ-LOZANO, JAIME

SANTOMÉ-COLLAZO, LUIS

GRANA-FERNÁNDEZ, ANDREA

CABALEIRO-CERVIÑO, PABLO

ORTÍZ, MARTÍN

MONSERRAT-IGLESIAS, LORENZO