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The Human Genome Project (HGP) is an international and collaborative research program whose goal was to determine the DNA sequence of the entire human genome and characterize the full repertoire of genes encoded therein.

This most historically significant scientific endeavour, a 13-year quest to sequence all 3 billion base pairs of the human genome, can be compared to the Apollo program bringing humanity to the moon.

Decoding the human genome is the most significant undertaking that we have mounted so far in an organized way in all of science. I believe that reading our blueprints, cataloguing our own instruction book, will be judged by history as more significant than even splitting the atom or going to the moon.

Francis S. Collins (Cracking the Code of Life, May 1998)

The Human Genome Project has given the world a resource of detailed information about the structure, organization and function of the complete set of human genes. This information can be thought as the basic set of inheritable “instructions” for the development and function of a human being.

During the 1950’s and 1960’s effective progress was made in understanding the mechanisms by which genetic information is stored within the chemical structure of the DNA molecule. However, during this period, the information itself remained nearly inaccessible.
The progressive spirit found within the research conducted in life sciences helped to nourish the conception of the Human Genome Project.

Genesis of the Human Genome Project

The idea of sequencing the human genome was first discussed in 1984 at a meeting in Salt Lake City hosted by the Department of Energy and the International Commission for Protection Against Environmental Mutagens and Carcinogens.

The Human Genome Project was officially launched on October 1990 and coordinated by the U.S Department of Energy and National Institutes of Health.The program is considered one of the most ambitious and successful international research collaborations in the history of biology.

From its inception the project employed a two-phased approach to decipher the human genome sequence.
The first phase, called the shotgun phase, divided human chromosomes into DNA segments of an appropriate size, which were then further subdivided into smaller DNA fragments that were sequenced. It relied upon the physical map of the human genome established earlier which served as a platform for generating and analysing the massive amounts of DNA sequence data that emerged from the shotgun base.
The second phase of the project called the finishing phase, involved filling in gaps and resolving DNA sequences in some uncertain areas not acquired during the shotgun phase.

The main goals were to provide a complete and accurate sequence of the 3 billion DNA bases pairs that make up the human genome and to find all of the estimated 20’000 to 25’000 human genes.
The project also aimed to sequence the genomes of several other organisms that are important to medical research.

In addition to sequencing DNA, the Human Genome Project welcomed collaborators from any nation in an attempt to move beyond borders to establish an all-inclusive effort aimed at understanding our genetic molecular heritage and develop new tools to obtain and analyse data. This required that all human genome sequence information be freely and publicly available, in order to provide scientists in academia and in industry, the capability for new discoveries.

Thanks to the Human Genome Project, more than 2’000 researchers from 20 different countries have sequenced all 3.2 billion base pairs in the human genome.

The International Human Genome Sequencing Consortium published the first draft of the human genome in the journal Nature in February 2001 with the sequence of the entire genome’s three billion base pairs some 90% complete. The full sequence was completed and published in April 2003.

Dr. Francis Collins, a physician-geneticist director of the National Human Genome Research Institute (NHGRI) led the team that mapped the human genome, noted that the genome could be described in terms of a book with multiple 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.

Francis S. Collins, M.D, PhD

Completion of the Human Genome Project has delivered an enhanced understanding of human genetics, including a greater appreciation of how DNA shapes species development and evolution, biology and disease susceptibility.
It contributed to the creation of the HapMap Project and 1’000 Genomes project which has since provided the basis for whole genome association studies (WGA), thereby facilitating elucidation of the genetic variants that influence the development of complex diseases including cancer, diabetes, autoimmune syndromes and neurological disorders.

1000_timeline_genomes_projectHighlights from the 1000 Genomes Project. [Illustration: Spencer Phillips, EMBL-EBI]

The project catalysed the development of numerous crucial genomic technologies and led to substantial innovations in molecular biology, chemistry, physics, robotics and computation.

Indeed, The Human Genome Project has made numerous contributions to science, especially the medical field.

Today the leading scientists advocate early detection of actionable mutations as vital for cancer prevention.
For instance, early screening of BRCA1 and BRCA2 variants predisposing ovarian and breast cancer can save lives.

For more information, read about Serenity, Genoma’s non-invasive and painless screening test to detect inherited risk to develop ovarian or breast cancer.