April 14 2003 – The Human Genome Project is Completed

355

*Image Credit: Wikimedia Commons In the history of science, there have been dozens of discoveries which have changed the nature of the field going forward. On April 14, 2003, following more than twelve years of research by geneticists on four continents, the Human Genome Project was declared complete. For the first time in history, a picture of the DNA sequence necessary to create a person was available — with 99.99 per cent accuracy. During the mid-1980s, the United States Department of Energy held a pair of conferences with respected scientists to discuss genetics. By reviewing available technology and laying out the aims for a large-scale project to map out DNA, the final analysis in 1987 was blunt: “The ultimate goal of this initiative is to understand the human genome…[for] the continuing progress of medicine and other health sciences.” Two years later, the National Institutes of Health created the National Center for Human Genome Research to guide the study. With a combined $3 billion in grant money from the Department of Energy and National Institutes of Health, the group was provided a 15-year window to complete the research. Initially, progress was slow. Beyond the herculean task of identifying some 20,000 to 25,000 genes — comprised of approximately 3 billion pairs of proteins total — the group would have to consider the ethical, legal and social issues associated with determining the full code of human DNA. As if unwinding the complex structure of the sequence was not hard enough, the scientists would have to lay out best- and worst-case scenarios for how others might use the information. For every potential new therapy, there was just as much of a possibility someone could create viruses or bacteria capable of seizing on weaknesses in the human “blueprint.” As time passed, advances in technology sped research up dramatically. Using the combined resources of top-level geneticists in the United Kingdom, France, Australia and Japan, the American team at the National Human Genome Research Institute (NHGRI) and academic researchers at universities across the United States produced a preliminary draft in the year 2000. On April 14, 2003 — two years before the deadline — the NHGRI announced that 99 per cent of the human genome was sequenced, with a 99.99 per cent rate of accuracy. Though the findings continue to be analyzed, it has been confirmed that at least 92 per cent of the DNA pattern was understood, opening the door to a vast range of possibilities for future research in a variety of fields. Francis Collins, NHGRI’s director from 1993, described the unique value of the project as such: “It’s a history book — a narrative of the journey of our species through time. It’s a shop manual, with an incredibly detailed blueprint for building every human cell. And it’s a transformative textbook of medicine, with insights that will give health care providers immense new powers to treat, prevent and cure disease.” The sheer amount of information available boggles the mind: some 23,000 genes were discovered, with a significant amount of repeated groupings within the sequence. Of the billions of chemical units necessary to produce a human being, less than 7 per cent are believed to define an individual as a vertebrate — meaning the determining factors between an newborn person and a freshly-hatched roundworm are remarkably few. In the decade since the announcement, the importance of the discovery has been difficult to gauge. For many biologists, the map of the human genome provides unique opportunities for revealing the nature of evolution and the microscopic progress of cancer or blood disorders. Commercially, the advent of personal gene profiling has steadily dropped in price, allowing individuals to supply a swab of the inner cheek and receive a preliminary analysis in just a few weeks. According to some forecasts, thanks to the work of the Human Genome Project, a future in which medications can be tailor-made for an individual’s DNA sequence is not just possible, but likely. Also On This Day: 1699 – Guru Gobind Singh formalizes the Khalsa, creating the basis for the Sikh Religion 1828 – Noah Webster copyrights his first dictionary 1865 – President of the United States Abraham Lincoln is assassinated by John Wilkes Booth 1912 – The British oceanliner Titanic strikes an iceberg at 11:40pm 1956 – The use of videotape for recording is demonstrated in Chicago, Illinois