WHAT IS Genomics

Genomics refers to the study of the entire genetic code of any particular species. In humans, this code contains about 3 billion pairs of chemicals that make up DNA and the entire code is replicated within each cell in the body. The study of genomics achieved prominence in the late 1990s as scientists raced to create a comprehensive map of the entire human genome.


Genomics has its roots in 1869 when Swiss doctor Friedrich Miescher isolated a new type of molecule in the nucleus of human pus cells and named it nuclein. He observed that nucleins were composed of a combination of oxygen, nitrogen, phosphorus and nitrogen. About 30 years would pass before Albrecht Kossel would identify five bases that comprise nucleic acids - adenine, cytosine, guanine, thymine and uracil. In 1953, James Watson and Dennis Crick built on the work of Russian scientist Phoebus Levene and Austrian Erwin Chargaff to describe the double-helix structure of DNA, a nucleic acid composed of pairs of those bases.  Adenine and thymine were always paired with each other, as were cytosine and guanine. At the time of Watson and Crick’s discovery, DNA was suspected to contain the hereditary information unique to each human, but the molecule’s structure had eluded researchers.

Genomics and the Race to Code the Human Genome

The Human Genome Project (HGP) was launched in the mid-1980s as a collaboration between the National Institutes of Health (NIH) and the U.S. Department of Energy (DOE). Its goal was to produce a comprehensive map of the 3 billion combinations of the four bases of DNA. NIH had been a major hub of genomic research for many years, while DOE had become interested in the subject as part of its research on the effects of radiation on human genes.

In February 2001, the National Human Genome Research Institute (NHGRI) at NIH published a paper revealing about 90 percent of the sequence of the human genome. Their findings suggested that humans have between 20,000 and 25,000 genes. NHGRI then founded the ENCODE project, which was tasked with narrowing that number down to identify with specificity all human genes. ENCODE published a series of papers in 2012 finding that humans share 20,687 genes. NHGRI completed its mapping of the genome in 2006.

Commercialization of Genomics

The HGP is often referred to as a public works project, but it led to a rapid expansion of private investment in genomics beginning in the mid-1990s. By 2000, the World Health Organization found that private genomics research and development investment had doubled that of the public sector. R&D efforts in the 1990s revolved mostly around parallels to the sequencing efforts of the HGP, such as improvements in computing power to aid the HGP. Since then, genomics R&D has evolved to focus on gene therapies and the mapping of individuals’ DNA to identify health risks built into that coding, and genetic engineering.