The Human Genome Project (HGP) started in 1990 as a collaboration between international researchers whose shared goal was to map and understand all the genes of a human being. All of a person’s genetic material taken together, including all the genes and other genomic elements, constitute their “genome.”
HGP scientists used several approaches to decode the human genome: They studied the order, or sequence, of the more than 3 billion bases in human DNA. They made maps showing the location of genes on our chromosomes – no easy task, given the 20,500 genes in a human genome. And they produced linkage maps that can be used to track inherited traits, such as genetic diseases, through many generations.
Decoding that first human genome sequence took six to eight years of active sequencing and cost approximately $1 billion. Today, a human genome can be sequenced in one or two days and costs $4000 to $5000. Further reduction – to less than $1000 – is anticipated in the next few years.
The HGP’s ultimate accomplishment was to give the world detailed information about the structure, organization, and function of a complete set of human genes – the “set of instructions” for a human being. The project also fueled a giant leap in our knowledge about disorders caused by single-gene defects. Before the HGP began, we knew the genetic basis of about 60 rare genetic diseases; when it ended the number had jumped to 2,200. Today, with research energized by the HGP, we know the genomic basis of nearly 5,000 rare disorders.
The tools and technology created to accomplish this goal have also been used to decode the genomes of research organisms such as mice, roundworms, and fruit flies. Dogs, cats, cows, pigs, even the opossum and platypus genomes have been sequenced. In 2003, researchers had sequenced the genomes of three vertebrates; today, 112 vertebrate genome sequences are known.
One hallmark of the HGP’s massive international research effort was its commitment to openness, sharing information rapidly among research groups as it was discovered, and allowing scientists throughout the world to have unimpeded access to the human sequence data. Information generated by the HGP continues to be widely disseminated, with an ongoing commitment to analyzing its ethical, legal, and social implications, and related policy options.