Personalized or Precision Medicine? The Example of Cystic Fibrosis.

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, personaliz

SUBMITTER: Marson FAL 

PROVIDER: S-EPMC5476708 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature