www.ornl.gov/hgmis/publicat/primer/ U.S. Department of Energy Office of Science 

Genomics and Its Impact on Science and Society

The Human Genome Project and Beyond

U.S. Department of Energy Genome Research Programs: genomics.energy.gov

Although genes get a lot of attention, the proteins 

perform most life functions and even comprise the 

majority of cellular structures. Proteins are large, complex 

mole­cules made up of chains of small chemical compounds called amino acids. Chemical properties that 

distinguish the 20 different amino acids cause the 

protein chains to fold up into specific three-dimensional 

structures that define their particular functions in the cell.

The constellation of all proteins in a cell is called 

its proteome. Unlike the relatively unchanging 

genome, the dynamic proteome changes from minute 

to minute in response to tens of thousands of intraand extracellular environmental signals. A protein’s 

chemistry and behavior are determined by the gene 

sequence and by the number and identities of other 

proteins made in the same cell at the same time and 

with which it associates and reacts. Studies to explore 

protein structure and activities, known as proteomics, 

will be the focus of much research for decades to come 

and will help elucidate the molecular basis of health 

and disease.

A Primer

Cells are the fundamental working units 

of every living system. All the instructions 

needed to direct their activities are contained 

within the chemical DNA (deoxyribonucleic acid).

DNA from all organisms is made up of the 

same chemical and physical components. The 

DNA sequence is the particular side-by-side 

arrangement of bases along the DNA strand (e.g., 

ATTCCGGA). This order spells out the exact instructions required to create a particular organism with 

its own unique traits.

The genome is an organism’s complete set 

of DNA. Genomes vary widely in size: The smallest 

known genome for a free-living organism (a bacterium) contains about 600,000 DNA base pairs, 

while human and mouse genomes have some 

3 billion (see p. 3). Except for mature red blood 

cells, all human cells contain a complete genome.

DNA in each human cell is packaged into 46 chromosomes arranged into 23 pairs. Each chromosome is 

a physically separate molecule of DNA that ranges in 

length from about 50 million to 250 million base pairs. 

A few types of major chromosomal abnormalities, 

including missing or extra copies or gross breaks and 

rejoinings (translocations), can be detected by microscopic examination. Most changes in DNA, however, 

are more subtle and require a closer analysis of the 

DNA molecule to find perhaps single-base differences.

Each chromosome contains many genes, the 

basic physical and functional units of heredity. Genes 

are specific sequences of bases that encode instructions on how to make proteins. Genes comprise only 

about 2% of the human genome; the remainder 

consists of noncoding regions, whose functions may 

include providing chromosomal structural integrity 

and regulating where, when, and in what quantity 

proteins are made. The human genome is estimated to 

contain some 25,000 genes.

Download 

PowerPoint Files

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see p. 12

DOE/SC-0083

From Genes to Proteins

protein complex
 U.S. Department of Energy Office of Science www.ornl.gov/hgmis/publicat/primer/

The Human Genome Project, 1990–2003

A Brief Overview

T

hough surprising to many, the Human Genome 

Project (HGP) traces its roots to an initiative in 

the U.S. Department of Energy (DOE). Since 1947, 

DOE and its predecessor agencies have been charged 

by Congress with developing new energy resources 

and technologies and pursuing a deeper understanding of potential health and environmental risks posed 

by their production and use. Such studies, for example, 

have provided the scientific basis for individual risk 

assessments of nuclear medicine technologies.

In 1986, DOE took a bold step in announcing the 

Human Genome Initiative, convinced that its missions 

would be well served by a reference human genome 

sequence. Shortly thereafter, DOE joined with the 

National Institutes of Health to develop a plan for a 

joint HGP that officially began in 1990. During the early 

years of the HGP, the Wellcome Trust, a private charitable institution in the United Kingdom, joined the effort 

as a major partner. Important contributions also came 

from other collaborators around the world, including 

Japan, France, Germany, and China.

Ambitious Goals

The HGP’s ultimate goal was to generate a 

high-quality reference DNA sequence for the human 

genome’s 3 billion base pairs and to identify all human 

genes. Other important goals included sequencing the 

genomes of model organisms to interpret human DNA, 

enhancing computational resources to support future 

research and commercial applications, exploring gene 

function through mouse-human comparisons, studying human variation, and training future scientists in 

genomics.

The powerful analytical technology and data arising from the HGP present complex ethical and policy 

issues for individuals and society. These challenges 

include privacy, fairness in use and access of genomic 

information, reproductive and clinical issues, and commercialization (see p. 8). Programs that identify and 

address these implications have been an integral part 

of the HGP and have become a model for bioethics 

programs worldwide.

A Lasting Legacy

In June 2000, to much excitement and fanfare, 

scientists announced the completion of the first working draft of the entire human genome. First analyses of 

the details appeared in the February 2001 issues of the 

journals Nature and Science. The high-quality reference 

sequence was completed in April 2003, marking the end 

of the Human Genome Project—2 years ahead of the 

original schedule. Coincidentally, it also was the 50th 

anniversary of Watson and Crick’s publication of DNA 

structure that launched the era of molecular biology.

Available to researchers worldwide, the human 

genome reference sequence provides a magnificent 

and unprecedented biological resource that will serve 

throughout the century as a basis for research and 

discovery and, ultimately, myriad practical applications. The sequence already is having an impact on 

finding genes associated with human disease (see p. 3). 

Hundreds of other genome sequence projects—on 

microbes, plants, and animals—have been completed 

since the inception of the HGP, and these data now 

enable detailed comparisons among organisms, 

including humans.

Many more sequencing projects are under way 

or planned because of the research value of DNA 

sequence, the tremendous sequencing capacity now 

available, and continued improvements in technologies. Sequencing projects on the genomes of many 

microbes, as well as the chimpanzee, pig, sheep, and 

domestic cat, are in progress.

Beyond sequencing, growing areas of research 

focus on identifying important elements in the DNA 

sequence responsible for regulating cellular functions 

and providing the basis of human variation. Perhaps 

the most daunting challenge is to begin to understand 

how all the “parts” of cells—genes, proteins, and many 

other molecules—work together to create complex living organisms. Future analyses of this treasury of data 

will provide a deeper and more comprehensive understanding of the molecular processes underlying life and 

will have an enduring and profound impact on how we 

view our own place in it.
www.ornl.gov/hgmis/publicat/primer/ U.S. Department of Energy Office of Science 

Insights from the Human DNA Sequence

Organism Genome Size

(Base Pairs)

Estimated 

Genes

Human (Homo sapiens) 3.2 billion 25,000

Laboratory mouse (M. musculus) 2.6 billion 25,000

Mustard weed (A. thaliana) 100 million 25,000

Roundworm (C. elegans) 97 million 19,000

Fruit fly (D. melanogaster) 137 million 13,000

Yeast (S. cerevisiae) 12.1 million 6,000

Bacterium (E. coli) 4.6 million 3,200

Human immunodeficiency virus (HIV) 9,700 9

The estimated number of human genes is only one-third as great as previously 

thought, although the numbers may be revised as more computational and 

experimental analyses are performed.

Scientists suggest that the genetic key to human complexity lies not in gene 

number but in how gene parts are used to build different products in a process 

called alternative splicing. Other underlying reasons for greater complexity are 

the thousands of chemical modifications made to proteins and the repertoire 

of regulatory mechanisms controlling these processes.

How Does the Human Genome Stack Up?

T

he first panoramic views of the human genetic 

landscape have revealed a wealth of information and some early surprises. Much remains to 

be deciphered in this vast trove of information; as the 

consortium of HGP scientists concluded in their seminal 

paper, “. . . the more we learn about the human genome, 

the more there is to explore.” A few highlights follow 

from the first publications analyzing the sequence.

The human genome contains 3.2 billion chemical 

nucleotide base pairs (A, C, T, and G).

The average gene consists of 3,000 base pairs, but 

sizes vary greatly, with the largest known human 

gene being dystrophin at 2.4 million base pairs.

Functions are unknown for more than 50% of discovered genes.

The human genome sequence is 

almost exactly the same (99.9%) 

in all people.

About 2% of the genome encodes 

instructions for the synthesis of 

proteins.

Repeat sequences that do not 

code for proteins make up at least 

50% of the human genome.

Repeat sequences are thought 

to have no direct functions, but 

they shed light on chromosome 

structure and dynamics. Over 

time, these repeats reshape 

the genome by rearranging it, 

thereby creating entirely new 

genes or modifying and reshuffling existing genes.

The human genome has a much 

greater portion (50%) of repeat 

sequences than the mustard 

weed (11%), the worm (7%), and 

the fly (3%).

Over 40% of predicted human 

proteins share similarity with 

fruit-fly or worm proteins.

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Genes appear to be concentrated in random areas 

along the genome, with vast expanses of noncoding 

DNA between.

Chromosome 1 (the largest human chromosome) 

has the most genes (3,168), and Y chromosome has 

the fewest (344).

Particular gene sequences have been associated with 

numerous diseases and disorders, including breast 

cancer, muscle disease, deafness, and blindness.

Scientists have identified millions of locations 

where single-base DNA differences (see p. 9) occur 

in humans. This information promises to revolutionize the processes of finding DNA sequences associated with such common diseases as cardiovascular 

disease, diabetes, arthritis, and cancers.

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 U.S. Department of Energy Office of Science www.ornl.gov/hgmis/publicat/primer/

Managing and Using the Data

Bioinformatics Boom

Massive quantities of genomic data and highthroughput technologies are now enabling studies on a vastly larger scale than ever 

before. Examples include simultaneously monitoring 

and comparing the activity of tens of thousands of 

genes in cancerous and noncancerous tissue. Advanced 

computational tools and interdisciplinary experts are 

needed to capture, represent, store, integrate, distribute, and analyze the data.

Gene Gateway was created as a companion to the 

Human Genome Landmarks wall poster (see back page).

Bioinformatics is the term coined for the new field that 

merges biology, computer science, and information 

technology to manage and analyze the data, with the 

ultimate goal of understanding and modeling living 

systems. Computing and information demands will 

continue to rise with the explosive torrent of data 

from large-scale studies at the molecular, cellular, and 

whole-organism levels.

Gene Gateway: A User-Friendly Guide 

to Genome, Gene, and Protein Databases

All Human Genome Project data and much related information are freely available on the web, but how do you find and use these rich resources? The Gene Gateway 

website provides introductory guides and step-by-step tutorials that show how to access and explore genome, gene, and 

protein databases used by scien­tists. Gene Gateway demonstrates how to gather information from different databases to 

gain a better understanding of the molecular biology behind 

life proc­esses. The site offers a free workbook downloadable 

in PDF format.

Tutorials 

Identify genes associated with various genetic conditions 

and biological processes

Learn about mutations that cause genetic disorders

Browse a genome and find a gene’s location on a 

chromosome map

View the DNA sequence of a gene or amino acid sequence 

of a gene’s protein product

Visualize and modify three-dimensional representations of 

protein structures

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http:// genomics.energy.gov/genegateway/
www.ornl.gov/hgmis/publicat/primer/ U.S. Department of Energy Office of Science 

Medicine and the New Genetics

Gene Testing, Pharmacogenomics, and Gene Therapy

these gene tests is that they could provide information 

to help physicians and patients manage the disease or 

condition more effectively. Regular colonoscopies for 

those having mutations associated with colon 

cancer, for instance, could prevent thousands 

of deaths each year.

Some scientific limitations are 

that the tests may not detect every 

mutation associated with a particular condition (many are as 

yet undiscovered), and the ones 

they do detect may present different 

risks to various people and populations. 

Another important consideration in gene 

testing is the lack of effective treatments 

or preventive measures for many diseases 

and conditions now being diagnosed or 

predicted.

Knowledge about the risk of potential future disease can produce significant 

emotional and psychological impacts. 

Because genetic tests reveal information 

about individuals and their families, test 

results can affect family dynamics. Results 

also can pose risks for population groups if 

they lead to group stigmatization.

Other issues related to gene tests 

include their effective introduction into 

clinical practice, the regulation of laboratory quality assurance, the availability of 

testing for rare diseases, and the education of 

healthcare providers and patients about correct interpretation and attendant risks.

Families and individuals who have genetic disorders or are at risk for them often seek help from medical geneticists (an M.D. specialty) and genetic counselors (graduate-degree training). These professionals 

can diagnose and explain disorders, review available 

options for testing and treatment, and provide emotional support. (For more information, see the URL for 

Medicine and the New Genetics, p. 12.)

DNA underlies almost every aspect of human 

health, both in function and dysfunction. 

Obtaining a detailed picture of how genes and 

other DNA sequences work together and interact with environmental factors ultimately will 

lead to the discovery of pathways involved 

in normal processes and in disease 

pathogenesis. Such knowledge will 

have a profound impact on the 

way disorders are diagnosed, 

treated, and prevented and will 

bring about revolutionary changes 

in clinical and public health practice. 

Some of these transformative developments are described below.

Gene Testing

DNA-based tests are among the first 

commercial medical applications of the 

new genetic discoveries. Gene tests can 

be used to diagnose and confirm disease, 

even in asymptomatic individuals; provide 

prognostic information about the course 

of disease; and, with varying degrees of 

accuracy, predict the risk of future disease 

in healthy individuals or their progeny.

Currently, several hundred genetic 

tests are in clinical use, with many more 

under development, and their numbers 

and varieties are expected to increase 

rapidly over the next decade. Most current 

tests detect mutations associated with rare 

genetic disorders that follow Mendelian inheritance 

patterns. These include myotonic and Duchenne 

muscular dystrophies, cystic fibrosis, neurofibromatosis type 1, sickle cell anemia, and Huntington’s disease.

Recently, tests have been developed to detect 

mutations for a handful of more complex conditions 

such as breast, ovarian, and colon cancers. Although 

they have limitations, these tests sometimes are used to 

make risk estimates in presymptomatic individuals with 

a family history of the disorder. One potential benefit to 
 U.S. Department of Energy Office of Science www.ornl.gov/hgmis/publicat/primer/

Pharmacogenomics: Moving 

Away from “One-Size-Fits-All” 

Therapeutics

Within the next decade, researchers will begin 

to correlate DNA variants with individual responses 

to medical treatments, identify particular subgroups 

of patients, and develop drugs customized for those 

populations. The discipline that blends pharmacology with genomic 

capabilities is called 

pharmacogenomics.

More than 100,000 

people die each year 

from adverse responses 

to medications that may 

be beneficial to others. 

Another 2.2 million 

experience serious 

reactions, while others 

fail to respond at all. DNA variants in genes involved 

in drug metabolism, particularly the 

cytochrome P450 multigene family, are the 

focus of much current research in this area. 

Enzymes encoded by these genes are 

responsible for metabolizing most drugs 

used today, including many for treating 

psychiatric, neurological, and cardiovascular diseases. Enzyme function affects 

patient responses to both the drug 

and the dose. Future advances will 

enable rapid testing to determine the 

patient’s genotype and guide treatment with the most effective drugs, 

in addition to drastically reducing 

adverse reactions.

Genomic data and technologies 

also are expected to make drug development faster, cheaper, and more 

effective. Most drugs today are based 

on about 500 molecular targets, 

but genomic knowledge of genes 

involved in diseases, disease pathways, and drug-response sites will 

lead to the discovery of thousands of 

*Source: Journal of Gene Medicine website (www.wiley.co.uk/genetherapy/

clinical/), August 2006.

additional targets. New drugs, aimed at specific sites in 

the body and at particular biochemical events leading 

to disease, probably will cause fewer side effects than 

many current medicines. Ideally, genomic drugs could 

be given earlier in the disease process. As knowledge 

becomes available to select patients most likely to 

benefit from a potential drug, pharmacogenomics will 

speed the design of clinical trials to market the drugs 

sooner. 

Gene Therapy, Enhancement

The potential for using genes themselves to treat 

disease or enhance particular traits has captured the 

imagination of the public and the biomedical community. This largely experimental field—gene transfer 

or gene therapy—holds potential for treating or even 

curing such genetic and acquired diseases as cancers 

and AIDS by using normal genes to supplement or 

replace defective genes or to bolster a normal function such as immunity.

Almost 1,200 clinical gene-therapy trials were 

identified worldwide in 2006.* The majority (67%) 

take place in the United States, followed 

by Europe (29%). Although most trials 

focus on various types of cancer, studies 

also involve other multi­genic and monogenic, infectious, and vascular diseases. 

Most current protocols are aimed at 

establishing the safety of gene-delivery 

procedures rather than effectiveness.

Gene transfer still faces many 

scientific obstacles before it can 

become a practical approach for 

treating disease. According to the 

American Society of Human Genetics’ 

Statement on Gene Therapy, effective progress will be achieved only 

through continued rigorous research 

on the most fundamental mechanisms underlying gene delivery and 

gene expression in animals. 
www.ornl.gov/hgmis/publicat/primer/ U.S. Department of Energy Office of Science 

*Source: Biotechnology Industry Organization website 

(www.bio.org), June 2008.

Rapid progress in genome science and a glimpse 

into its potential applications have spurred 

observers to predict that biology will be the 

foremost science of the 21st Century. Technology and 

resources generated by the Human Genome Project 

and other genomic research already are having major 

impacts across the life sciences. The biotechnology 

industry employed more than 250,000 people in 2006, 

and revenues for 2005 totaled more than $50.7 billion.* 

Future revenues are expected to reach trillions of dollars.

A list of some current and potential applications 

of genome research follows. More studies and public discussion are required for eventual validation and implementation of some of these uses (see p. 8).

Bioarchaeology, Anthropology, 

Evolution, and Human Migration

Study evolution through germline mutations 

in lineages

Study migration of different population 

groups based on maternal genetic inheritance

Study mutations on the Y chromosome to trace 

lineage and migration of males

Compare breakpoints in the evolution of 

mutations with population ages and 

historical events 

DNA Identification

Identify potential suspects whose DNA may match 

evidence left at crime scenes

Exonerate people wrongly accused of crimes

Identify crime, catastrophe, and other victims

Establish paternity and other family relationships

Identify endangered and protected species as 

an aid to wildlife officials (e.g., to prosecute poachers)

Detect bacteria and other organisms that could 

pollute air, water, soil, and food

Match organ donors with recipients in 

transplant programs

Determine pedigree for seed or livestock breeds

Authenticate consumables such as caviar and wine

Agriculture, Livestock Breeding, 

and Bioprocessing 

Grow disease-, insect-, and drought-resistant crops

Optimize crops for bioenergy production

Breed healthier, more productive, disease-resistant 

farm animals

Grow more nutritious produce

Develop biopesticides

Incorporate edible vaccines into food products

Develop new environmental cleanup uses for plants 

such as tobacco

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Other Anticipated Benefits of Genetic Research

Expanding Impacts of New Technologies, Resources 

Molecular Medicine 

Improve diagnosis of disease

Detect genetic predispositions to disease 

Create drugs based on molecular information

Use gene therapy and control systems as drugs

Design “custom drugs” based on individual genetic 

profiles

Microbial Genomics

Rapidly detect and treat pathogens (disease-causing 

microbes) in clinical practice

Develop new energy sources (biofuels)

Monitor environments to detect pollutants

Protect citizenry from biological and chemical 

warfare

Clean up toxic waste safely and efficiently

Risk Assessment 

Evaluate the health risks faced by individuals who 

may be exposed to radiation (including low levels 

in industrial areas) and to cancer-causing chemicals 

and toxins

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 U.S. Department of Energy Office of Science www.ornl.gov/hgmis/publicat/primer/

Societal Concerns Arising from the New Genetics

Critical Policy and Ethical Issues

Uncertainties associated with gene tests for susceptibilities and complex conditions (e.g., heart 

disease, diabetes, and Alzheimer’s disease). Should 

testing be performed when no treatment is available 

or when interpretation is unsure? Should children be 

tested for susceptibility to adult-onset diseases?

Conceptual and philosophical implications regarding human responsibility, free will vs genetic 

determinism, and understanding of health and 

disease. Do our genes influence our behavior, and 

can we control it? What is considered acceptable 

diversity? Where is the line drawn between medical 

treatment and enhancement?

Health and environmental issues concerning geneti­cally modified (GM) foods and 

microbes. Are GM foods and other products safe for humans and the environment? How will these technologies 

affect developing nations’ dependence on industrialized nations?

Commercialization of products including property rights 

(patents, copyrights, and trade 

secrets) and accessibility of 

data and materials. Will patenting DNA sequences limit their 

accessibility and development 

into useful products?

*For more information, see the Ethical, 

Legal, and Social Issues URL, p. 12.

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F

rom its inception, the Human Genome Project 

dedicated funds to identify and address the ethical, legal, and social issues surrounding the availability of new genetic data and capabilities. Examples 

of such issues follow.*

Privacy and confidentiality of genetic information. Who owns and controls genetic information? Is 

genetic privacy different from medical privacy?

Fairness in the use of genetic information by 

insurers, employers, courts, schools, adoption 

agencies, and the military, among others. Who 

should have access to personal genetic information, and how will it be used?

Psychological impact, stigmatization, and discrimination due to an individual’s genetic makeup. How 

does personal genetic information affect self-identity and society’s perceptions?

Reproductive issues including adequate and 

informed consent and the use of genetic information in reproductive decision making. Do healthcare personnel properly counsel parents about risks 

and limitations? What larger societal issues are raised 

by new reproductive technologies?

Clinical issues including the education of doctors 

and other health-service providers, 

people identified with genetic 

conditions, and the general 

public; and implementation of 

standards and quality-control 

measures. How should health 

professionals be prepared for the 

new genetics? How can the public be educated to make informed 

choices? How will genetic tests be 

evaluated and regulated for accuracy, 

reliability, and usefulness? (Currently, 

there is little regulation.) How does society balance current scientific limitations 

and social risk with long-term benefits?

Fairness in access to advanced genomic 

technologies. Who will benefit? Will there 

be major worldwide inequities?

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The Genetic Information Nondiscrimination Act 

(GINA) became law on May 21, 2008. GINA prohibits 

U.S. health insurance companies and employers 

from discrimination on the basis of information 

derived from genetic tests. In addition, insurers and 

employers are not allowed under the law to request 

or demand a genetic test.

New Genetics Privacy Act Becomes Law
www.ornl.gov/hgmis/publicat/primer/ U.S. Department of Energy Office of Science 

Beyond the Human Genome Project—What’s Next?

Genome Sequences: Paving the Way for a More Comprehensive Understanding

sites in a genome where individuals differ in their DNA 

sequence, often by a single base. For example, one 

person might have the DNA base A where another 

might have C, and so on. Scientists believe the human 

genome has at least 10 million SNPs, and they are generating different types of maps of these sites, which 

can occur in both genes and noncoding regions.

Sets of SNPs on the same chromosome are 

inherited in blocks (haplotypes). In 2005 a consortium of researchers from six countries completed the 

first phase of a map of SNP patterns that occur across 

populations in Africa, Asia, and the United States. 

Researchers hope that dramatically decreasing the 

number of individual SNPs to be scanned will provide 

a shortcut for tracking down the DNA regions associated with such common complex diseases as cancer, 

heart disease, diabetes, and some forms of mental illness. The new map also may be useful in understanding how genetic variation contributes to responses to 

environmental factors.

Building a “Systems Level” View 

of Life

DNA sequences generated in hundreds of 

genome projects now provide scientists with 

the “parts lists” containing instructions for how 

an organism builds, operates, maintains, and reproduces 

itself while responding to various 

environmental conditions. We 

still have very little knowledge 

of how cells use this information to “come alive,” however, 

and the functions of most 

genes remain unknown. Nor do 

we understand how genes and the 

proteins they encode interact with each other and with 

the environment. If we are to realize the potential of the 

genome projects, with far-ranging applications to such 

diverse fields as medicine, energy, and the environment, 

we must obtain this new level of knowledge.

One of the greatest impacts of having wholegenome sequences and powerful new genomic technologies may be an entirely new approach to conducting biological research. In the past, researchers studied 

one or a few genes or proteins at a time. Because 

biological processes are intertwined, these strategies 

provided incomplete—and often inaccurate—views. 

Researchers now can approach questions systematically and on a much grander scale. They can study all 

the genes expressed in a particular environment or all 

the gene products in a specific tissue, organ, or tumor. 

Other analyses will focus on how tens of thousands of 

genes and proteins work together in interconnected 

networks to orchestrate the chemistry of life. These 

holistic studies are the focus of a new field called “systems biology” (see DOE Genomics:GTL Program, p. 10).

How Do Genetic Variations (SNP 

Patterns) Differ Across Populations?

Charting Human Variation

Slight variations in our DNA sequences can 

have a major impact on whether or not we develop a 

disease and on our responses to such environmental 

factors as infectious microbes, toxins, and drugs. One 

of the most common types of sequence variation is 

the single nucleotide polymorphism (SNP). SNPs are 

How does 

a living cell 

work?
10 U.S. Department of Energy Office of Science www.ornl.gov/hgmis/publicat/primer/

Microbes and plants have evolved unique biochemistries, offering a rich resource that can be applied to diverse national needs. Some 

recent projects funded by the DOE Genomics:GTL 

program highlight the potential wealth of natural 

capabilities available.

Plants for Biomass, Carbon Storage

Understanding the 

genes and regulatory mechanisms 

controlling growth 

and other traits 

in the recently 

sequenced poplar 

tree may lead to its 

use for bioethanol 

production and for 

sequestration (storage) of carbon.

Microbes 

Living in Termites: 

A Potential Source of Enzymes 

for Bioenergy Production

GTL researchers are investigating bacteria that live 

in termite hindguts and churn out wood-digesting 

enzymes. These proteins may be usable for breaking 

down plant cellulose into sugars 

needed for ethanol production. 

Termites also produce hydrogen as a 

by-product, a process that potentially could be reproduced on a 

larger scale.

Synthetic Nanostructures: 

Harnessing Microbial 

Enzyme Functions

Enzymes incorporated into synthetic membranes 

can carry out some of the functions of living cells and 

may be useful for generating energy, inactivating 

contaminants, and sequestering atmospheric carbon.

DOE Genomics:GTL Program

Exploring Genomes for Energy and Environmental Applications

GTL Investigations of Microbial and Plant Genomes

Image: Mike Perkins/PNNL

T

he Genomics:GTL (formerly Genomes to Life) 

program of the U.S. Department of Energy (DOE) 

is using the Human Genome Project’s technological achievements to help solve our growing 

energy and environmental challenges.

Today, genomics is the starting point for a new 

level of exploration across the life sciences. The GTL 

research program uses genomic (DNA) sequences of 

microbes and plants to launch large-scale investigations into their wide-ranging biochemical capabilities 

having potential applications in bioenergy and the 

environment (see sidebar below). Before these biological processes can be safely and economically 

harnessed for such uses, however, they must be 

understood in far greater detail and in the context of 

their operations within a dynamic, living organism.

To obtain this whole-systems knowledge, GTL 

investigates relevant plant and microbial properties 

on multiple levels. Starting with the DNA sequence, 

studies follow its expression (e.g., protein production, interactions, and regulation) in individual cells 

and populations of cells or organisms in ecosystems. 

Integrating genomic and many other data types into 

a computerized knowledgebase will stimulate new 

research strategies and insights needed for specialized applications.
www.ornl.gov/hgmis/publicat/primer/ U.S. Department of Energy Office of Science 11

Genomes for Bioenergy

Cellulosic Biomass: An Abundant, Secure Energy Source to Reduce

U.S. Dependence on Gasoline

Bioethanol made from cellulosic biomass—the 

inedible, fibrous portions of plants—offers a 

renewable, sustainable, and expandable domestic 

resource to meet the growing demand for transportation fuels and reduce our dependence on oil.

The United States now produces 7 billion gallons 

of corn-grain ethanol per year, a fraction of the 142 billion gallons of transportation fuel used annually. Cellulosic ethanol has the potential to dramatically increase 

the availability of ethanol and help meet the national 

goal of displacing 30% of gasoline by 2030.

Cellulose is the most abundant biological material on earth. The crops used to make cellulosic ethanol 

(e.g., postharvest corn plants—not corn grain—and 

switchgrass) can be grown in most states and often 

on marginal lands. As with ethanol from corn grain, 

cellulose-based ethanol can be used as a fuel additive to improve gasoline combustion in today’s 

vehicles. Modest engine modifications are required 

to use higher blends (85% ethanol). Additionally, the 

amount of carbon dioxide emitted to the atmosphere 

from producing and burning ethanol is far less than 

that released from gasoline. 

To accelerate technological breakthroughs, the 

DOE Genomics:GTL program will establish research 

centers to target specific DOE mission challenges. 

Three DOE Bioenergy Research Centers are focused on 

overcoming biological challenges to cellulosic ethanol 

production. In addition to ethanol, these centers are 

exploring ways to produce a new generation of 

petroleum-like biofuels and other advanced energy 

products from cellulosic biomass.

Download flyer at http://genomicsgtl.energy.gov/biofuels/placemat.shtml
12 U.S. Department of Energy Office of Science www.ornl.gov/hgmis/publicat/primer/

For More Information

This document was revised in June 2008 by the 

Genome Management Information System (GMIS) at 

Oak Ridge National Laboratory, Oak Ridge, Tennes­see, 

for the Office of Biological and Environmental Research 

within the U.S. Department of Energy Office of Science.

Free Copies and Presentation Materials

Individual print copies or class sets

Contact: genome@ornl.gov, 865/574-0597

Downloadable files

A PDF version of this document and accompanying PowerPoint file are accessible via the web 

(www.ornl.gov/hgmis/publicat/primer).

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Related Websites

Human Genome Project Information

www.ornl.gov/hgmis/home.shtml

Medicine and the New Genetics

www.ornl.gov/hgmis/medicine/

Ethical, Legal, and Social Issues

www.ornl.gov/hgmis/elsi/

Genetics Privacy and Legislation

www.ornl.gov/hgmis/elsi/legislat.shtml

Gene Gateway

genomics.energy.gov/genegateway/

Image Gallery (downloadable)

genomics.energy.gov/gallery/

Resources for Teachers 

www.ornl.gov/hgmis/education/

Resources for Students 

www.ornl.gov/hgmis/education/students.shtml

Careers in Genetics and the Biosciences

www.ornl.gov/hgmis/education/careers.shtml

DOE Joint Genome Institute

www.jgi.doe.gov

NIH National Human Genome Research Institute

www.genome.gov

Genomes OnLine Database (GOLD) 

www.genomesonline.org

National Center for Biotechnology Information

www.ncbi.nlm.nih.gov

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Genomics and Its Impact on Science and Society:

The Human Genome Project and Beyond 

The poster also features sidebars explaining genetic 

terms, with URLs for finding more detailed information (see web companion, Gene Gateway, p. 4).

Order free copies via the web:

genomics.energy.gov/posters/

Or see contact information below left.

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DOE Genomics:GTL Program

genomicsgtl.energy.gov

Focus on Biofuels

genomicsgtl.energy.gov/biofuels/

National Geographic: The Genographic Project

www.nationalgeographic.com/genographic/

International HapMap Project

www.hapmap.org

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Free Wall Poster of Human Chromosomes 

and Genes

June 2008

Printed with soy ink on recycled paper