Cristina Rodríguez-Antona, IIBM researcher, chairs the Spanish Society of Pharmacogenetics and Pharmacogenomics
The IV Conference of this society was attended by more than 280 experts in pharmacogenetics at the CNIO to present and discuss the different strategies that the autonomous communities of Spain have put in place to implement pharmacogenetics in their healthcare centers
Pharmacogenetics studies how genetic variants influence drug responses and can help to choose the safest and most effective treatment for each patient. This translates into an improvement for healthcare systems by reducing the number of hospitalizations, clinical tests, and medical consultations, and avoids the cost of treatments that are ineffective or cause toxicities in some patients.
Pharmacogenetics covers many medical specialties, from oncology, cardiology, or neurology to primary care. For example, it is important for the treatment with anti-tumor drugs, antidepressants, anticoagulants, or statins. ‘The current challenge is to make (pharmacogenetic) tests available to all patients who need them, regardless of the hospital where they are treated,’ explained Dr. Cristina Rodríguez-Antona, president of the Spanish Society of Pharmacogenetics and Pharmacogenomics (SEFF) and leader of the Pharmacogenomics and Tumor Biomarkers Group at the Instituto de Investigaciones Biomédicas Sol-Morreale (IIBM) CSIC-UAM.
A recent study indicates that pharmacogenetics can reduce adverse drug reactions by up to 30%, and it is estimated that one-third of patients would benefit from this personalized management based on their pharmacogenes. An individual's pharmacogenetic variants do not change over time, so these tests can be done once in a lifetime and act as a ‘barcode’ to help personalize drug prescription. "We know that more than 99% of the population has one or more pharmacogenetic variants that are involved in treatment with a drug, which means that in the near future we will be prescribed drugs à la carte," says Dr. Rodríguez Antona. The researcher published a paper on drugs with associated pharmacogenetic markers (1).
In January 2024, the Spanish Ministry of Health included several pharmacogenetic biomarkers in the Basic Portfolio of Genetic Services of the National Health System. For Dr. Rodríguez-Antona, this is a very important step to promote the implementation of pharmacogenetics in our country and to ensure that patients have equal and quality access to pharmacogenetic tests. This catalog of tests puts Spain ahead of many other countries in Europe.
But there are still challenges ahead, such as revising drugs’ summary of product characteristics to include all relevant pharmacogenetic data, even for old drugs; creating efficient systems to incorporate pharmacogenetic results in patient's electronic medical records and developing systems that support clinical decision-making, taking into account all the information of each patient; achieving harmonization of pharmacogenetic tests in terms of the genes and alleles evaluated, as well as in terms of quality controls. In addition, it is important to make an effort to raise awareness among professionals and the population of the benefits of pharmacogenetics, as well as to support the training of health professionals in this field, stressed Dr. Rodríguez-Antona.
About the Spanish Society of Pharmacogenetics and Pharmacogenomics (SEFF)
The Spanish Society of Pharmacogenetics and Pharmacogenomics (SEFF) is a multidisciplinary and transversal scientific society, with a national scope, which brings together more than 150 professionals. This Society, created almost 20 years ago, is the largest in Europe in this discipline and its main objective is to optimize the safety and efficacy of pharmacological treatments through precision medicine.
SEFF executive board. Photo: Laura M. Lombardía
1. Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data. Lanillos J, Carcajona M, Maietta P, Alvarez S, Rodriguez-Antona C. NPJ Genom Med. 2022;7(1):12.