MORE THAN 60 YEARS have passed since Watson and Crick deciphered the elegant structure of the
DNA double helix from a pattern of spots on X-ray film. Since the discovery of the structure and function of DNA, molecular biology has contributed enormously to our current understanding of virtually every facet of biological sciences.
C
urrently, discoveries on how genetic variation affects an individual’s response
to particular drugs, also known as the field of pharmacogenomics, are spurring a revolution in medical care known as personalized medicine. A growing body of knowledge in pharmacogenomics has demon- strated that even the most subtle of changes in the nucleotide sequence of DNA, so-called single nucleotide polymorphisms (SNPs), can have an enormous impact on the safety and effectiveness of drugs. Other types of genetic variation such as those that affect the extent of gene expression and gene copy number variations (CNVs) are also crucial determinants of patient genotype (their genetic makeup) and can affect an individual patient’s response to drugs. A paradigm shiſt in medicine is
underway, and the idea that one-drug- fits-all is being replaced with a promise of personalized medicine based on
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the genetic makeup of the individual. It has been clear since the 1950s that individual response to drugs varies greatly and can be due to factors such as environment, gender and ethnicity, to name a few. We have learned from clini- cal genetics that a patient’s genotype is the most important factor underlying an individual’s response to a drug. With today’s advancements in genomic tech- nology and the precipitously decreasing costs of such diagnostics, there exists a promise of personalized medicine becoming available to everyone in the very near future. Te cost of genotyping a person’s
entire genetic code, also called whole genome sequencing, is plummeting. Sequencing a patient’s entire genome is approaching the $1000 mark. Te speed of sequencing has accelerated beyond rates that Moore’s law would predict, thanks to new next genera- tion sequencing (NGS) technologies such as the Ion Torrent (Life Technol- ogies, Inc.) and Illumina’s machines.
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