Introduction

The concept of deciphering the Human Genome surfaced in the United States in
the 1930s following the discoveries that color blindness and hemophilia are linked to
chromosome X.

The Human Genome Project (HGP) originated in the U.S. at the Department of Energy
(DOE) meeting in Alta, Utah in December 1984, when the possible use of DNA analysis in
detecting mutations among atomic bomb survivors was contemplated.

Following lengthy deliberations, the U.S. government approved the program, and in 1988
the HGP was launched under the supervision of the National Institutes of Health (NIH)
and DOE. In 1990 it was shaped into the form of a 15-year program, designed to map and
sequence the entire Human Genome and also of several model organisms, at a yearly
budget of two hundred million dollars totaling three billion dollars, to end in the year
2005.

Several other countries, headed by France, the UK and to a lesser extent Japan, have
joined this effort. Contiguous to this is an ongoing international collaboration of many
other countries, including Israel. It also includes the contribution of several international
organizations, such as HUGO (Human Genome Organization), the European Community
(EC), and UNESCO, in the dissemination of knowledge and information and the support of
scientific and technological activities.

The present publication provides a concise description of the evolvement of the HGP, its
goals, the countries and organizations involved, and the activities and progress thereof.
The expectations from the HGP, as held by the scientific, therapeutic and biotechnological
communities, as well as society as a whole, are enormous, and so are the benefits. At the
same time, however, the knowledge derived from the HGP could, and most probably
would, result in the establishment of a genetic identification for each person, harboring a
great risk to the individual and to society if not used prudently and under the strictest of
regulations.
 The sequencing of the human genome represented the largest single undertaking
in the history of biological science and stands as a signature scientific achievement. All of
history in the making, human DNA took just 13 years to sequence under the Human
Genome Project (HGP), an international public project led by the United States, and a
complementary private program. Sequencing the human genome—determining the
complete sequence of the 3 billion DNA base pairs and identifying each human gene—
required advanced technology development and the assembly of an interdisciplinary
team of biologists, physicists, chemists, computer scientists, mathematicians and
engineers.

The Human Genome Project (HGP) typically refers to the federally‐funded

program that ran from 1990 to 2003 (though it also included initial funding in 1988 and
1989). Part of our economic analysis focuses just on this essential and galvanizing
component of the total effort to unravel the human genome. But the total effort to
decode the human genome involved many public and private players over many more
years, and the work of entities such as Celera Genomics played an important part. Our
analysis of the functional impacts of the HGP necessarily includes all these contributions,
and in general our reference to the effort to map the genome should be understood to
encompass numerous contributions made by multiple parties to our current
understanding.

Scientists are using the reference genome, the knowledge of genome structure,
and the data resulting from the HGP as the foundation for fundamental advancements in
medicine and science with the goal of preventing, diagnosing, and treating human
disease. Also, while foundational to the understanding of human biological systems, the
knowledge and advancements embodied in the human genome sequencing, and the
sequencing of model organisms, are useful beyond human biomedical sciences. The
resulting “genomic revolution” is influencing renewable energy development, industrial
biotechnology, agricultural biosciences, veterinary sciences, environmental science,
forensic science and homeland security, and advanced studies in zoology, ecology,
anthropology and other disciplines. In the ten years since the first sequences were
published, much has been written about the scientific consequences of mapping the
genome but little analysis has been done of the economic significance of the
achievement. For this reason, Battelle has produced, with support from Life Technologies
Foundation, this first comprehensive analysis of the economic impact of the HGP.

The Functional Impacts of the Human Genome Project

While the economic impacts of the sequencing of the human genome are
impressive, the ultimate goal of the HGP was to improve our biological understanding,
and our health and wellbeing. The economic impact may be viewed as a “bonus” that has
occurred in addition to the primary functional impacts. The programs sought to create
benefits for humankind by elucidating basic molecular processes governing life and via
the application of knowledge gained to human healthcare and multiple other fields that
would benefit from advancements in genomics knowledge and technology. Figure ES‐1
also illustrates Battelle’s representation of the structure of functional impacts generated
by the sequencing of the human genome. These functional impacts include the
development of genomics tools, technologies and techniques—an area of fundamental
importance to making the sequencing feasible. Significant advancement was made over
the course of human genome sequencing across a broad range of technology fronts and
these have, in many cases, been commercialized and form the foundation for a highly
active and growing commercial genomics‐based industry.

The application of these genomic tools, technologies and techniques resulted in a

truly dramatic expansion of basic biological knowledge. The full human genome sequence
unveiled a complex biological system unanticipated by most in science, and has been a
paradigm shifting event for biology. As the sequencing information from the HGP was
posted publically on a daily basis to the World Wide Web, the data contained could be
immediately put to use advancing application of knowledge across a broad range of
scientific disciplines and applied fields. Revealing the human genome structure and
sequence had a direct impact on biomedical science. It also had a transformational effect
on the identification of mechanisms of disease, diagnosis of genetic diseases and
disorders, elucidation of pathways and potentially involved biological elements in
complex diseases and disorders, and detection of specific targets for drugs and biologics.
Furthermore, having the full human sequence has served to advance additional human
biomedical applications in R&D in areas such as gene therapy, vaccine development,
regenerative medicine and stem cell therapy, and the refined matching of organs and
tissue from donors to patients.

With the first full draft of the human sequence in hand, new areas of biomedical
science have opened—with pharmacogenomics and companion diagnostics, for example,
being used to identify appropriate drugs based on patient genomic profiling and to refine
the dosing of therapies, thereby maximizing effectiveness and reducing negative side‐
effects. Already being applied in the treatment of some cancers, pharmacogenomics,
empowered by the sequencing of the human genome, holds promise for revolutionizing
the practice of medicine in the 21st Century. Modern genomics, the reference human
genome sequences, and comparative organism sequences, have empowered a new view
of biological processes.