On this day in medical history: The Human Genome Project is completed

On June 26, 2000, President Bill Clinton and British Prime Minister Tony Blair announced the completion of the historic Human Genome Project (HGP), an international research collaboration that sought to determine the sequence of nucleotide base pairs comprising human DNA and to identify and map the genes in the genome.

This marks the day when the first available rough draft of the genome was finished by the Genome Bioinformatics Group, University of California, Santa Cruz. Further sequencing contributed to the compilation of the essentially complete genome on April 14, 2003, and the sequence of the last chromosome was published in Nature in May 2006.

A genome is the complete set of genes or genetic material in a cell or organism stored in the chromosomes, or long molecules of DNA. In turn, DNA is made up of a pair of twisting strands. Each strand is comprised of four chemical units, or nucleotide bases, made up of adenine (A), thymine (T), guanine (G), and cytosine (C). The human genome is comprised of more than 3 billion DNA of these base pairs, which always pair specifically: A with T, and C with G. All cells with a nucleus contain a copy of the genome.

In simple terms, the HGP sought to identify the approximately 30,000 genes in human DNA and to determine the sequences of the chemical bases comprising it.

Launched in 1990, the HGP’s list of contributors included the National Human Genome Research Institute (NHGRI) of the National Institutes of Health (NIH), the US Department of Energy, universities and laboratories throughout the United States, and international partners in the UK, France, Germany, Japan, and China.

The final sequencing map published on April 14, 2003, was reported to cover 99% of the euchromatic human genome. According to a quality assessment of the genome sequence published in 2004, 92% of sampling had an accuracy of more than 99.99%. Assessments of the HGP are continuing.

Scientists deciphered the human genome using linkage maps to track inherited traits over generations. They produced maps of the locations of genes for major sections of all chromosomes, and determined the sequences of all the bases in the human genome’s DNA.

Databases available on the internet store the DNA sequence. The National Center for Biotechnology Information keeps the gene sequence in GenBank, a database which also contains sequences of known and hypothetical genes and proteins.

What it means

When the first draft of the genome was published in February 2001, Francis Collins, MD, PhD—former NHGRI director who led the effort to complete the HGP and is now the director of the NIH—compared the genome to a book with many uses: "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."

For his contributions to genetic research, Dr. Collins received the Presidential Medal of Freedom on November 5, 2007.

The HGP brought together more than 2,000 multinational, multidisciplinary researchers. It also spawned the birth of many consortium-based genomics projects, including the 1,000 Genomes Projects, The Cancer Genome Atlas, and the Human Microbiome Project.

The sequencing of the human genome is potentially useful in medicine and a number of other fields. For example, it may foster a better understanding of different pathogens, such as viruses, to help guide treatment. In oncology, sequencing can help identify the various mutations that may be associated with different forms of cancer. Pharmaceutical applications can extend to the development of medications and more accurate predictions of their effects. The sequence can even be applied in fields such as forensic applied sciences, biofuels and energy, agriculture, animal husbandry, bioprocessing, risk assessment, bioarcheology, anthropology, and evolution.

Although most of the new drugs based on the completed genome are still a few years from fruition, more than 350 biotech products are currently in clinical trials, according to the Biotechnology Industry Organization.

For more information on the Human Genome Project, go tohttps://web.ornl.gov/sci/techresources/Human_Genome/index.shtml

Sources:

NIH National Human Genome Research Institute. “What is the Human Genome Project?” https://www.genome.gov/11511417/what-is-the-human-genome-project/. Accessed June 13, 2018.

NIH National Human Genome Research Institute. “The Human Genome Project Completion: Frequently Asked Questions.” https://www.genome.gov/11006943/human-genome-project-completion-frequently-asked-questions/. Accessed June 13, 2018.

Green E, Watson JD, Collins FS. Twenty-five years of big biology. Nature. 2015;526(7571):29-31.