Precision medicine in cystic fibrosis

Cystic fibrosis is a hereditary multisystemic disease, that has presented a rise in prevalence in the Hispanic population in recent decades. A little more than 30 years ago, the cystic fibrosis transmembrane conductance regulator (CFTR) gene was discovered. To date, 2.106 mutations have been identified in the CFTR gene, 382 recognized as causing cystic fibrosis. According to the consequence in the CFTR function, the mutations have been classified into 6 classes. Those technological advances have made it possible to deepen our understanding of the structure and function of CFTR, its variants and responses to therapies, and in this way, they have allowed precision medicine to be implemented in cystic fibrosis. Therefore, new drugs, known as modulators, have been developed; enhancers and correctors being the most relevant among them due to their current clinical application. Their joint use in dual and triple therapy allows greater patient coverage and shows superior results by improving lung function, reducing respiratory exacerbations and improving quality of life. Cystic fibrosis has become an example of precision medicine, but there are still challenges in terms of accessibility to therapies and offering treatment to those patients with mutations not included in the available drugs or with an inadequate response.