Personalized or Precision Medicine? The Example of Cystic Fibrosis

Author(s)

Marson, Fernando A. L. ; Bertuzzo, Carmen S. ; Ribeiro, Jose D.

• Document type: Review article
• Source: FRONTIERS IN PHARMACOLOGY; v. 8, JUN 20 2017.
• Web of Science Citations: 14

Abstract

The advent of the knowledge on human genetics, by the identification of disease-associated variants, culminated in the understanding of human variability. With the genetic knowledge, the specificity of the clinical phenotype and the drug response of each individual were understood. Using the cystic fibrosis (CF) as an example, the new terms that emerged such as personalized medicine and precision medicine can be characterized. The genetic knowledge in CF is broad and the presence of a monogenic disease caused by mutations in the CFTR gene enables the phenotype-genotype association studies (including the response to drugs), considering the wide clinical and laboratory spectrum dependent on the mutual action of genotype, environment, and lifestyle. Regarding the CF disease, personalized medicine is the treatment directed at the symptoms, and this treatment is adjusted depending on the patient's phenotype. However, more recently, the term precision medicine began to be widely used, although its correct application and understanding are still vague and poorly characterized. In precision medicine, we understand the individual as a response to the interrelation between environment, lifestyle, and genetic factors, which enabled the advent of new therapeutic models, such as conventional drugs adjustment by individual patient dosage and drug type and response, development of new drugs (read through, broker, enhancer, stabilizer, and amplifier compounds), genome editing by homologous recombination, zinc finger nucleases, TALEN (transcription activator-like effector nuclease), CRISPR-Cas9 (clustered regularly interspaced short palindromic repeats-CRISPR-associated endonuclease 9), and gene therapy. Thus, we introduced the terms personalized medicine and precision medicine based on the CF. (AU)

• FAPESP's process: 11/12939-4 - Association between polymorphisms in modifier genes in children and adolescent with allergic and non-allergic: mild, moderate and severe asthma
• Grantee: Fernando Augusto de Lima Marson
• Support Opportunities: Scholarships in Brazil - Doctorate
• FAPESP's process: 15/12183-8 - Identification of prevalent mutations and clinical and functional characterization of children and adults with primary ciliary dyskinesia
• Grantee: Jose Dirceu Ribeiro
• Support Opportunities: Regular Research Grants
• FAPESP's process: 11/18845-1 - Association between polymorphisms in modifier genes in children and adolescent with allergic and non-allergic mild, moderate and severe asthma
• Grantee: Jose Dirceu Ribeiro
• Support Opportunities: Regular Research Grants
• FAPESP's process: 15/12858-5 - Identification of prevalent mutations and clinical and functional characterization of children and adults with primary ciliary dyskinesia
• Grantee: Fernando Augusto de Lima Marson
• Support Opportunities: Scholarships in Brazil - Post-Doctoral