Pharmacogenomics Variability of Lipid-Lowering Therapies in Familial Hypercholesterolemia

The exponential expansion of genomic data coupled with the lack of appropriate clinical categorization of the variants is posing a major challenge to conventional medications for many common and rare diseases. To narrow this gap and achieve the goals of personalized medicine, a collaborative effort should be made to characterize the genomic variants functionally and clinically with a massive global genomic sequencing of healthy subjects from several ethnicities. Familial-based clustered diseases with homogenous genetic backgrounds are amongst the most beneficial tools to help address this challenge. This review will discuss the diagnosis, management, and clinical monitoring of familial hypercholesterolemia patients from a wide angle to cover both the genetic mutations underlying the phenotype, and the pharmacogenomic traits unveiled by the conventional and novel therapeutic approaches. Achieving a drug-related interactive genomic map will potentially benefit populations at risk across the globe who suffer from dyslipidemia.

Automated summary

The rapid growth of genomic data and lack of appropriate clinical categorization of variants pose challenges to traditional medications. Global sequencing of healthy subjects and studying clustered familial diseases are tools to address this gap. Achieving an interactive genomic map related to drugs can benefit populations worldwide with dyslipidemia risk.