Dr. César Paz-y-Miño.UTE University.  

genetica_medica@cesarpazymino.com

Precision Medicine, also known as personalized medicine, represents a fundamental change in the way health is approached. By recognizing the uniqueness of each individual and the need for personalized treatments, you achieve optimal results. This approach involves considering the genetic and population components of each patient, which leads to genetically oriented and particularized care. 

Advances in genomics, bioinformatics and big data analysis have been key to the development of Precision Medicine, since they provide sophisticated tools to understand individual variation at the molecular, genetic, clinical, epigenetic and environmental levels, as well as the identification of genes associated with diseases and responses to drugs.  

The identification of biomarkers and genetic patterns makes it possible to predict disease susceptibility and response to treatment, facilitating more effective and personalized interventions. Precision Medicine is based on principles such as a personalized approach, the use of biomarkers, disease prevention, multidisciplinary collaboration and evidence-based decision making. 

Precision Medicine focuses on four key points: diagnosis and treatment of inherited diseases, drug selection, disease prevention and gene therapy. In the field of oncology, Precision Medicine has had great success in using genetics and biomarkers to guide cancer treatment. The identification of mutations in genes such as EGFR, BRAF and HER2 has allowed the development of targeted therapies that improve the survival of cancer patients. Drugs such as Omo, Erlotinib, Gefitinib, Trastuzumab or Imatiniv have been developed. In addition, Precision Medicine facilitates the early detection of cancer by identifying genetic markers associated with an increased risk of suffering from the disease. 

In common diseases such as hypertension, dyslipidemia and coronary heart disease, Precision Medicine supports early detection and selection of optimal drugs and doses based on individual genetic characteristics. In the use of warfarin, the optimal dose can vary significantly between individuals due to differences in the genes responsible for its metabolism. In neurological and psychiatric diseases, Precision Medicine helps identify genes associated with diseases such as Alzheimer's, Parkinson's, schizophrenia and depression, allowing the selection of personalized drugs and doses. 

In countries such as Argentina, Mexico and Chile, initiatives and centers specialized in Precision Medicine have been established, while in Ecuador a lack of development in this field has been identified. Despite the challenges in countries with weak economies and problems such as: limitations in access to genomic technologies, financial barriers, deficiencies in specialized training and poor health infrastructure, the implementation of Precision Medicine can significantly improve care. medical around the world.  

This transformative approach has the potential to innovate clinical practice, public health, and the future of healthcare, highlighting the importance of geneticists specializing in applying new discoveries to patient care and reducing long-term costs for health systems. . International collaboration, specialized training and investment in infrastructure are key to driving the widespread implementation of Precision Medicine and improving population health globally. 

Bibliography: 

  1. Tabery J. “Precision Medicine” Is Genomic Medicine. Am J Bioeth. 2024 Mar;24(3):91-93. Epub 2024 Feb 23. PMID: 38394011. 
  1. Ginsburg, G.S., Phillips, K.A. (2018). Precision medicine: from science to value. Health Affairs, 37(5), 694-701.  
  1. Cimino JJ. Planning for Actionable Precision Medicine. Stud Health Technol Inform. 2024 Jan 25;310:244-248. 
  1. Garza, JR, et al. (2017). Patient perspectives on the promise of genomic medicine. The Patient-Centered Outcomes Research, 10(3), 301-311. 
  1. Collins, F.S., & Varmus, H. (2015). A new initiative on precision medicine. New England Journal of Medicine, 372(9), 793-795. 
  1. Halbert CH. Equity in Genomic Medicine (2022) Annu Rev Genomics Hum Genet. 2022 Aug 31;23:613-625 Epub Apr 1. PMID: 35363547.  
  1. Leopold JA. Editorial commentary: Precision medicine based on personal phenotyping (2024) Trends Cardiovasc Med. Feb;34(2):126-127. 

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