Raymond A. Lorenz, PharmD, BCPP & Jeffrey Mando, B.S
Tailored Treatment of Cystic Fibrosis through Pharmacogenomics. Does pharmacogenomics (PGx) offer a path towards more effective cystic fibrosis (CF) treatment? Cystic Fibrosis (CF) is an autosomal recessive disorder characterized by the absence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This genetic anomaly results in the buildup of thick, sticky mucus in the lungs, pancreas, and other organs, leading to severe respiratory and digestive complications (Elborn, 2020). PGx offers a promising avenue for personalized treatment of CF by advancing research, treatment, and life expectancy.
CTFR modulators proven effective in 38 different mutations. Advancements in CF research are driven by omics testing and biomarkers. The FDA requires CFTR genotyping before starting therapy with a CFTR modulator like ivacaftor or Trikafta. There are currently 38 different mutations where CFTR modulators have been proven effective. These drugs restore the function of the defective CFTR protein, significantly improving lung function. Omics testing and genetic sequencing identify specific CFTR mutations, enabling personalized treatments tailored to each patient’s genetic profile. Biomarkers monitor disease progression and assess drug response.
PGx helpful in uncovering genetic characteristics that affect drug efficacy and metabolism. PGx in CF treatment is helpful in uncovering genetic characteristics that affect drug efficacy and metabolism. As a result, various medications routinely prescribed for CF are optimized, such as respiratory treatments and antibiotics (Biocatalyst, 2024). This personalized approach can lead to better outcomes for patients with CF by reducing adverse drug reactions and improving treatment effectiveness. Additionally, PGx testing can help identify potential drug interactions and guide clinicians in selecting the most appropriate medications for each individual.
New gene therapies seek to address underlying genetic changes that cause CF. Patients’ life expectancy and quality of life have significantly increased as a result of advancements in CF therapy (U.S. FDA, 2023). Furthermore, new gene therapies seek to directly address the underlying genetic changes that cause CF. The growing role of precision medicine in CF management promises better outcomes for patients. As pharmacogenomics continues to be integrated into clinical practice, it holds transformative potential for personalized CF care.
Learn more about UGenome’s Personalized Medication Service, ProPEx, or contact UGenome. You can also find case studies for UGenome’s bioinformatics services Metabolite Identification, Bone Metastasis Risk Analysis in Breast Cancer, Survival Analysis with gene signatures in cancer
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