Pharmacogenomics and Cardiovascular Disease

Background

It has been a little over a 15 years since the publication of the initial draft of the human genome (Venter et al. 2001; Lander et al. 2001). Estimates for the final cost to sequence the “first” human genome range from $500 million to $1 billion. Since the completion of this first genome sequencing, technologies have undergone two revolutions first with massively parallel sequencing in the 2005 and recently with nanopore sensing technologies that hold out the hope of single molecule sequencing. As these next generation sequencing technologies become readily available, genome sequencing costs has decreased and sequence yields increased exponentially. In large part due to availability of high-throughput sequencing technologies it has become possible to begin to assess and catalogue human genetic variation. In an analysis of sequence data from protein coding regions (exomes) of 60,706 individuals Lek, et al. (2016) have identified over 3,000 genes which are likely loss of function variants; importantly 72% of these identified genes have no established disease phenotype at this time. The ultimate identification and delineating of these variants in human populations are critical to understanding the underlying genetic causes of human disease and drug response.

This revolution in genomic technologies as well as the attendant advances in bioinformatics has led to the appeal for prevention and treatment strategies based upon the individual characteristics of the patient, now referred to as “Precision Medicine”.