The Evolution of Genomic Medicine:
Completion of the Human Genome Project has ushered in the era of genomic medicine and led to an ever-broadening application of genomic information in clinical practice. In just over a decade (1990-2003), this major international scientific effort accomplished its primary goal to sequence the first human genome, and to map approximately 25,000 genes to their physical location.
Interpretation of the information from the human genome project continues to increase. Today, a growing knowledge of the human genome and gene function is providing new avenues to develop tests and therapeutics that will change the overall practice of medicine. In the last several years, the number of Single Nucleotide Polymorphisms (SNPs) that have been identified and can be assessed on a single chip has dramatically increased. As genomic platforms improve, so does the ability to identify the genetic causes of common, complex diseases. More recently, advances in DNA sequencing platforms have led to a rapid increase in the number of human genomes sequenced and a concomitant dramatic reduction in the time and cost of generating this data.
Genomic medicine, made possible by the emergence of advanced genomic technologies, is enabling a revolution in patient care. Combining detailed information about an individual patient’s disease processes at the molecular and cellular levels with information from traditional non-invasive methods provides physicians with a more complete picture of their patient’s status. With this information, physicians are empowered to make more individualized patient care decisions.
- Altshuler, David. How the pace of new insights in genetic variation affects the need for evidence. Institute of Medicine Annual Meeting. October 8, 2007. Slide 5
