The Irresistible Rise of Genomic Medicine

Feb. 6, 2015

By Medical Discovery News


It’s only been 150 years since scientists discovered what we now call DNA. Today, it’s a household word, the basis for the field genomics, and an integral part to multitudes of scientific studies. It’s remarkable how relatively quickly our understanding of genes has progressed.

DNA was first thought to represent the genetic material of living organisms in the 1940s. Doctors Francis Crick and James Watson revealed the double helix structure of DNA in 1953, which is widely considered to be the first revolution in modern biology. In 1977, we first decoded the entire genome of a living organism, a tiny virus that infects bacteria called ФX174. This was the first time we understood all the DNA required to produce a life form. The term genomics was first coined in 1987 to describe the structure and functions of an organism’s entire genetic blueprint.  In 1995, we determined the genome of a free-living organism, a bacterium called Haemophilus influenza, for the first time. The genome of a eukaryotic organism, Baker’s yeast, was first completed in 1996. These early studies provided the novel approaches and advanced technologies that were later used to sequence the human genome, which consists of 3 billion base pairs. The human genome project, the second revolution in modern biology, began in 1990, and was completed in 2003. Since then, the genomes of more than 4,000 other organisms, including the ancient human species Neanderthal and the coffee plant, have been completely determined.

Genomics continues to be a part of the third revolution, convergence, which merges the rigors of computational science and engineering with modern biology. It cost $1 billion and took eight years to complete the sequence of the first human genome. Now, the cost of sequencing a human genome is a fraction of that at $2,000-$4,000 and takes a mere 1-3 days to complete. More than 2,500 human genomes have been sequenced from 26 distinct populations, and 100 million genetic variations have been discovered from these human samples so far. These variations are part of what make us each unique as people, but they can also reveal why we might be experiencing or have susceptibility to disease.

This is where genomic medicine comes in. Dr. Eric Green, the director of the National Human Genome Research Institute at the National Institutes of Health, says there are multiple studies with great promise in this emerging field. For example, cancer genomics has been used to determine the DNA sequence of tumor cells, which can help identify the type of cancer cells in a tumor and the cause of the cancer. That information can then be used to direct the type of treatment that would be the most effective for each individual, creating a personalized approach to medicine. A person’s DNA sequence may also disclose what pharmaceuticals will work most effectively.

The human genome project advanced our understanding of genetics and heredity. Much research is now focused on genomes and their relation to disease. More recently, scientists are using this newfound knowledge to further the science of medicine.

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