Advancing human health through genomics research

National Institutes of Health

National

 Genome

Human 

Research Institute
The National Human Genome Research Institute 

(NHGRI) is one of the 27 Institutes and Centers at the 

U.S. National Institutes of Health (NIH). NHGRI, an 

international leader in genomics research, develops 

resources, technologies, and policies for advancing 

genomics and its application to improving human 

health. The Institute also supports the training of 

investigators and the dissemination of genomic 

knowledge to the public and to health professionals. 

Additional information about NHGRI can be found at 

genome.gov.

NIH, the nation’s medical research agency, is a 

component of the U.S. Department of Health and 

Human Services. NIH is the primary federal agency 

conducting and supporting basic, translational, 

and clinical research, and investigates the causes, 

treatments, and cures for both common and rare 

diseases. For more information about NIH and its 

programs, visit nih.gov.

National

 Genome

Human 

Research Institute
 1 Director’s Message

 2 Genomics Primer

 3 Benefits of Genomics Research

 4 History of Genomics

 5 Overview of NHGRI’s Organization

 6 NHGRI Core Values

 7 Priority Research Areas for NHGRI

 8 Genome Structure and Function

12 Genomics and Human Disease

16 Genomic Medicine

20 Genomics and Society

24 Genomics and Data Science

25 Training in Genomics

26 Future Horizons

NHGRI was established in the late 1980s to lead NIH’s efforts in 

the Human Genome Project, the audacious international endeavor 

that deciphered the order of the ~3 billion ‘letters’ that make up the 

human ‘blueprint’ (i.e., the human genome sequence). Completed 

in 2003, the Human Genome Project laid the foundation for the 

burgeoning field of genomics. Fast forward to today, and NHGRI 

is the largest organization in the world dedicated to genomics 

research.

Genomics is central to understanding human biology and human 

disease—everything starts with the genome’s long strands of 

deoxyribonucleic acid (or DNA). The information encoded in DNA 

provides the basic instructions for our lives, and subtle variations in 

our genomes greatly influence our health, our risk for disease, and 

many of our features. While NHGRI receives less than two percent 

of NIH’s total annual budget, its genomics research programs 

are important for many of the studies supported by other NIH 

Institutes and Centers whose missions are mostly focused on specific 

disease areas. In addition, NHGRI leads multiple research programs 

supported by the NIH Common Fund, a trans-NIH pool of funds 

used for short-term, exceptionally high-impact projects that aim to 

eliminate key scientific roadblocks (commonfund.nih.gov).

The majority of NHGRI’s funds are used to support genomics 

research at leading academic and commercial institutions across 

the United States and around the world. NHGRI is best known for 

funding and leading large, consortium-based programs, but it also 

supports the work of many individual investigators. Among the 

most impressive recent successes resulting from this support are 

spectacular advances in genomic technologies, particularly those 

aiming to reduce the cost of DNA sequencing. 

In addition, roughly twenty percent of NHGRI’s funds are used to 

conduct research in the Institute’s laboratories in and around Bethesda, 

Maryland. These efforts are led by NHGRI’s intramural investigators, 

who capitalize on the unique strengths of the broader NIH Intramural 

Research Program to pursue a wide range of genomics studies, from 

addressing very basic questions about genome structure and function 

to developing approaches for using genomic information in clinical 

research and medical care.

At NHGRI, we believe that studying the broader societal implications 

of genomics and genomic advances is a critical component of our 

research program. From the beginning, the Institute has dedicated 

a fixed portion of its budget to study the ethical, legal, and social 

implications of genomics research. In addition, NHGRI staff regularly 

engage in active dialogue with many societal audiences, including 

educational institutions, community organizations, healthcare 

professionals, and the general public. To facilitate these interactions, 

we use many different communication tools—including our widely 

respected website (genome.gov), our GenomeTV channel on 

YouTube, and other social media sites (such as Facebook and Twitter).

The impact of genomics over the past quarter century has been 

remarkable. Going forward, NHGRI remains ‘laser focused’ on helping 

to fulfill the promise of the Human Genome Project, which is largely 

synonymous with our fundamental mission—advancing human 

health through genomics research. I invite you to learn more about 

our research portfolio and our many associated programs by reading 

the following pages and visiting our website at genome.gov.

Genomics is one of the most vibrant, compelling, and relevant scientific disciplines of the 21st century. 

I am proud to be leading the National Human Genome Research Institute (NHGRI), which has been 

a pioneer in genomics for more than a quarter century.

Eric D. Green, M.D., Ph.D.

Director, National Human Genome Research Institute

Director’s Message

1
To build a house or a car, you need a blueprint—a detailed parts list with assembly 

instructions. For all living creatures, the genome functions as that blueprint.

Our blueprint—the human genome—resides within tiny double-stranded fibers of 

deoxyribonucleic acid (DNA) that are packed into chromosomes within the nucleus of cells.

The typical human cell contains 23 pairs of chromosomes, with one set of 23 chromosomes 

coming from each parent.

Males and females have two copies of 22 of these chromosomes (called autosomes); for the

23rd pair, known as the sex chromosomes, the two sexes differ—females have two 

X chromosomes and males have one X chromosome and one Y chromosome.

DNA is made of four different building blocks, each containing one of the following chemicals: 

adenine (A), thymine (T), cytosine (C), and guanine (G).

The order of the A, T, C, and G building blocks (‘letters’) in the human genome encodes the 

biological instructions that tell each cell what to do and when to do it.

Each set of 23 chromosomes (essentially one copy of the human genome) contains ~3 billion 

‘letters’ (so the typical human cell contains ~6 billion genomic ‘letters’ in total).

The genome of each person is slightly different from the genome of every other person (i.e., 

it is unique). For example, when the sequences (the order of ‘letters’) of any two people’s 

genomes are compared, they have a different ‘letter’ roughly once every thousand positions.

The great majority of genomic differences (or variants) are inconsequential, but some 

influence our physical traits and health.

Genomics Primer

Some basics about the human genome:

ge·nome

noun [jē ́nōm ́]: all of the DNA in a cell

ge·no·mics

noun [jē nō ́miks]: the study of genomes

2
The scientific leaders who proposed the Human Genome 

Project in the 1980s envisioned numerous benefits from the 

multi-billion dollar investment: (1) mapping and sequencing 

the human genome would increase basic understanding about 

how the genome works and, therefore, how cells work; (2) 

genomic knowledge would accelerate medical research, yielding 

fundamental insights about inherited diseases and disorders 

like cancer; and (3) technological advances coupled with new 

genomics-enabled scientific opportunities would stimulate the 

biotechnology industry (then less than a decade old), helping to 

propel the world economy into the next century. The predictions 

of these scientific visionaries were remarkably on target. Since 

that time, NHGRI has played a pivotal role in realizing the 

scientific and economic benefits brought about by genomics 

research, mostly in the biomedical research arena. At the same 

time, genomic advances are also benefiting many other important 

areas (e.g., agriculture, livestock, energy, and forensics).

Increasing basic understanding of the genome

Genomics research has expanded our grasp of the interplay 

between genome structure and function and has clarified many 

misconceptions. As the Human Genome Project got under way, 

many scientists estimated that humans—being the complex 

creatures that we are—carry 100,000 or more genes in our 

genomes. Today, we know that number is much lower, more like 

~20,000 genes. We have also learned that those vast stretches 

of DNA that do not code for proteins, previously called “junk 

DNA” by some, are far from useless. In fact, studies over the last 

decade have revealed the presence of hundreds of thousands 

of functional elements within the large portions of the human 

genome that do not directly code for proteins. Many of these 

latter elements play central roles in controlling the activity of our 

genes.

Accelerating medical research

Genomics has become a central discipline of biomedical 

research, quickly spreading across the entire research landscape. 

Virtually all other NIH Institutes and Centers, as well as many 

other private and public institutions in the United States and 

around the world, have made major investments in genomics. 

NHGRI and other components of NIH have launched important 

partnerships to use genomics to study areas of longstanding 

interest. These have included The Cancer Genome Atlas (TCGA), 

a joint endeavor between NHGRI and the National Cancer 

Institute to investigate the genomics of cancer, and a program 

exploring the implications, opportunities, and challenges of using 

genome sequence information in the newborn period, which is 

being pursued collaboratively between NHGRI and the Eunice 

Kennedy Shriver National Institute of Child Health and Human 

Development. NHGRI also supports multiple efforts to enhance 

the use of genomic medicine to improve patient care.

Stimulating the biotechnology industry

Since the completion of the Human Genome Project, the largest 

driver of genomic advances has been the stunning progress in 

developing more powerful technologies for sequencing DNA. 

Catalyzed by an NHGRI program in technology development 

coupled with significant investments by the private sector, the 

costs of sequencing DNA have plummeted at a pace far exceeding 

Moore’s Law (the well-known observation that computing power 

doubles roughly every 24 months). Along with cost reductions, 

the speed of sequencing genomes has increased substantially. 

These technological developments, in conjunction with other 

genomic advances, have been a boon for the economy. A 

2013 analysis by the Battelle Technology Partnership Practice 

determined that from 1988 to 2012, the U.S. government 

invested $11.3 billion ($14.5 billion in 2012 dollars) in the Human 

Genome Project and related areas of genomics research. This 

investment generated directly or indirectly nearly $1 trillion in 

economic activity, more than 4.3 million job-years of supported 

employment, and $54.8 billion in tax revenues from genomics 

research, development, and commercial activities. The 2013 

report also noted that for every $1 invested in genomics by the 

U.S. government, there was a return on investment of ~$65 for the 

U.S. economy. While there are different ways to assess the specific 

economic output of the federal investment in genomics, it is clear 

that the cumulative yield has been substantial.

Genomics is an engine for both scientific and economic growth

Benefits of Genomics Research

3
In the 1860s, Gregor Mendel, an Austrian monk, studied pea 

plants to decipher patterns of inheritance, but he had no 

idea what carried traits from one generation to the next. 

The young Swiss physician Friedrich Miescher discovered 

DNA in the 1870s; he named it “nuclein” since it existed in 

the cell’s nucleus. Decades later, in the 1940s, Oswald Avery 

and colleagues proved that DNA is the molecule containing 

life’s inherited information.

In 1953, James Watson and Francis Crick described the 

double-helical structure of DNA, a finding deduced from 

the X-ray diffraction images of DNA generated by Rosalind 

Franklin. This key insight provided the definitive piece of the 

puzzle about how DNA serves as the molecule of heredity, 

carrying genetic information from one cell to the next and 

one generation to the next. The 1960s then brought key 

insights about DNA structure and function. This included 

elucidation of the genetic code—the fundamental rules 

about how DNA’s nucleotides (represented by As, Ts, Cs, 

and Gs) encode the instructions for making proteins—and 

development of a more refined view of the units of DNA 

responsible for encoding proteins (i.e., genes).

A detailed understanding of the workings of genes 

remained beyond reach, however, until the molecular 

biology revolution of the 1970s and 1980s, an era that 

brought powerful new tools for studying and manipulating 

DNA. Among the critical advances of that time were the 

contributions of Fred Sanger and Walter Gilbert, who 

independently developed the first techniques for determining 

the sequence of nucleotides in DNA.

Genomics is a young discipline built on the work of early geneticists and, later, molecular biologists

History of Genomics

Improvements to the early methods for isolating, analyzing, 

and sequencing DNA led to the notion of comprehensively 

studying an organism’s DNA (i.e., its genome), leading to 

the launching of the Human Genome Project in 1990. This 

remarkable international endeavor galvanized interest in 

genomics among scientists and the public alike.

Within 10 years, the first draft of the human genome 

sequence was generated, and in April 2003, leaders of the 

Human Genome Project revealed a finished sequence of 

the ~3-billion-letter human genome. The Human Genome 

Project was complete. In many ways, that historic milestone 

marked the ‘starting line’ for what has since transpired, as 

knowledge about genome function and the genome’s role 

in health and disease has soared.

Office for Human Genome 

Research (OHGR) established

OHGR becomes National 

Center for Human Genome 

Research (NCHGR) 

Ethical, Legal, and Social 

Implications (ELSI) Research 

Program established

Francis Collins appointed 

NCHGR Director

Strategic Plan: A New 

Five-Year Plan for the U.S. 

Human Genome Project

James Watson appointed 

OHGR Director 

NCHGR Intramural Research 

Program established 

Human Genome Project 

(HGP) begins

Strategic Plan: Understanding 

Our Genetic Inheritance

1988 1989 1990 1993 1993

1989 1990 1991 1993

4
Overview of NHGRI’s Organization 

Seven divisions serve to align the Institute’s structure with its mission

NHGRI leads the field of genomics by strategically investing in highly innovative studies, technologies, and data resources needed 

to understand how the genome works and to use that knowledge for advancing human health. The Institute was established as a 

Center at the National Institutes of Health (NIH) in 1989 to carry out NIH’s role in the Human Genome Project, then was elevated 

to an Institute and renamed the National Human Genome Research Institute, or NHGRI, in 1997. The Institute funds a wide range 

of research on the structure and function of the human genome and the genomes of other animals, on the genome’s role in health 

and disease, and on the ethical, legal, and social implications of genomics research. NHGRI also supports the training of the next 

generation of genomics investigators and the dissemination of genomic information to the public and to healthcare professionals.

National Human Genome Research Institute

Extramural Research Program

Division of Genome Sciences

Supports basic genomics research and technology 

development, as well as major activities, such as 

large-scale genome sequencing.

Division of Genomic Medicine

Leads the Institute’s efforts to advance the application

of genomics to medical science and clinical care.

Division of Genomics and Society

Oversees the study of the societal issues relevant to 

genomics research, incorporating and extending the 

Institute’s Ethical, Legal, and Social Implications (ELSI) 

Research Program and integrating these efforts with 

other relevant NHGRI activities.

Division of Extramural Operations

Manages myriad operational aspects of the Institute’s 

Extramural Research Program, such as grants 

management and scientific review.

Division of Intramural Research

Conducts genomics and genetics research in NHGRI’s 

laboratories on and around the main NIH campus 

in Bethesda, Maryland.

Division of Policy, Communications, and Education

Oversees a diverse set of functions from policy development 

and legislative affairs to media relations and educational 

outreach to students, healthcare professionals, and members 

of the public.

Division of Management

Leads a wide range of Institute activities, from financial 

management to administrative services to information 

technology.

1997

NCHGR becomes National 

Human Genome Research 

Institute (NHGRI)

1998

Strategic Plan: New Goals for the 

U.S. Human Genome Project

2

Human Genome Project 

completed

003

2003

Strategic Plan: A Vision for the 

Future of Genomics Research 

2008

Genetic Information 

Nondiscrimination Act 

(GINA) becomes U.S. law

2009

Eric Green appointed 

NHGRI Director 

2011

Strategic Plan: Charting a 

Course for Genomic Medicine 

from Base Pairs to Bedside

2012

NHGRI reorganizes to 

accommodate expanding 

research mission 

2013

NHGRI-Smithsonian exhibition 

Genome: Unlocking Life’s Code 

opens 

President Obama announces 

the U.S. Precision Medicine 

Initiative 

2015

5
Successful organizations are guided by core values that shape how they pursue their missions 

and influence their cultures and people. Some of NHGRI’s core values are common to research 

organizations, while others are less typical. 

Improving human health

Genomics offers tremendous potential for deciphering the molecular bases of human disease and, 

eventually, improving the health of people around the world and reducing health disparities.

Elucidating a basic understanding of biology 

Genomic approaches are proving to be powerful for gaining fundamental new insights about biological 

systems.

Translating basic knowledge into medical advances

The translation of basic genomic knowledge into tools and approaches for improving the diagnosis, 

treatment, and prevention of human disease is a high priority. 

Fostering interdisciplinary and collaborative research

Genomic studies prosper when they are pursued in a highly collaborative fashion by researchers from 

multiple disciplines.

Embracing consortia-based science

Highly coordinated and carefully managed research consortia have proven to be extremely effective 

and productive for pursuing certain large genomics projects.

Maximizing data sharing

Widespread sharing of research data is a basic tenet for all genomics (and, increasingly, all biomedical) 

research, with attention to appropriate protections for the human subjects participating in the research.

Investing in technology development

All major successes in genomics have been driven by the development of new technologies; while highrisk in nature, investment in innovative genomic technology development is critical.

Addressing the societal implications of genomics research

The nature of genomics demands attentiveness to the larger implications of research advances for 

individuals, communities, and societies; relevant issues relate to providing equitable access to genomic 

technologies and the outcomes of genomics research, informing and protecting research participants, 

and educating healthcare professionals and the public about this rapidly emerging area of science.

NHGRI Core Values 

6
Understanding how the human genome works

The Human Genome Project deciphered the order of the ‘letters’ in the 

human genome sequence, but it will take decades of research to fully reveal 

all the complexities of how the genome functions. These efforts involve 

using laboratory and computational approaches to assemble inventories of 

functional elements in the human genome, to establish the choreography 

by which these elements confer biological function, and to catalog the 

differences among people’s genomes. Key to these advances is the ongoing 

development of new technologies and approaches for studying genome 

structure and for elucidating genome function.

Realizing the health benefits of genomics will take decades of dedicated work and a global effort 

that builds on past findings and expands as new productive avenues emerge. NHGRI has a longterm commitment to this promising enterprise through the following four priority research areas.

Priority Research Areas for NHGRI 

Establishing the role of genomic variants in health and disease

Diseases are a consequence of a complex choreography of influences from 

our genomes and our environmental and social exposures. Rare diseases 

typically result from the presence of genomic variants (mutations) in a single 

gene, with environmental and social influences playing a lesser role. Common 

diseases typically result from the presence of multiple risk-conferring genomic 

variants in conjunction with environmental and social influences. Large-scale 

genomic studies can establish the role that genomic variants play in rare and 

common diseases, in the response to medications, and in the preservation of 

health.

Using genomic information to advance medical care and human health

Genomic medicine is an emerging medical discipline that involves using 

an individual’s genomic information as part of his or her clinical care (e.g., 

for diagnostic or therapeutic decision-making) and the other implications 

of that clinical use. A foundation for the systematic implementation of 

genomic medicine is being built by research programs that are establishing 

tools, resources, and a knowledge base to empower healthcare professionals 

to capitalize on genomic information in the delivery of clinical care. Helping 

patients, their families, and their friends understand the role that genomics 

will play in making healthcare decisions is also vital.

Addressing the societal impact of genomic advances

Studying the ethical, legal, and social implications of genomics research 

has been a cornerstone of the field since its inception. As new technologies 

increase our capability to generate genomic information and research 

increases our understanding of what that information might mean, society 

needs to determine how to use the technologies and information responsibly. 

Genomics is the study of commonality and of differences, and ensuring that 

research moves forward in ways that remain mindful of the implications 

of the generated knowledge is fundamental to the ultimate success of the 

enterprise.

Genome Structure and Function

Genomics and Human Disease

Genomic Medicine

Genomics and Society

7
Genome Structure and Function

8
Beginning of the

Human Genome Project

(1990)

Present Future

Cost to generate a 

human genome sequence

Time to generate a 

human genome sequence

~$1-3 billion

<$1,000

~6-8 years

~5-6 days <1 day

End of the 

Human Genome Project

(2003)

~$10-50 million

~3-4 months

~$1,000-3,000

Sequencing a Human Genome: 

Time and cost have plummeted due to 

vast improvements in technology.

Understanding How the Human Genome Works

Establishing how genomes confer biological information

After completing the Human Genome Project in 2003 

and with a generated human genome sequence in hand, 

genomic researchers immediately turned their attention 

to understanding what that sequence means in order to 

acquire a deeper understanding of genome function and to 

aid studies to uncover the genomic bases of human health 

and disease.

Embedded in the billions of As, Ts, Cs, and Gs across the 

human genome is a fundamental, yet complicated, code 

for human biology. Elucidating that code requires novel 

approaches for performing laboratory and computational 

studies. Part of that work involves understanding the 

genomic differences and similarities among a vast array 

of organisms—an area known as comparative genomics. 

Overall, researchers have made substantial progress in 

identifying and characterizing the thousands and thousands 

of functional elements in the human genome. While a 

complete understanding of human genome function will 

take decades to achieve, the information collected to 

date is already providing critical insights for scientists 

and clinicians studying genomic contributions to human 

health and disease.

One key to the phenomenal success of the Human Genome 

Project was the dedicated technological innovations that 

occurred hand-in-hand with the generation of genomic 

data. The same is true now, and genomic advances 

continue to depend heavily on the development of new 

technologies. NHGRI programs have fostered the emergence 

of powerful new genomic technologies, in particular even 

better methods for sequencing DNA. As a result, the cost of 

generating genome sequence data has plummeted.

Empowered with these more sophisticated genomesequencing methods, researchers have turned their 

attention to cataloging and characterizing the differences, 

or variants, that exist among people’s genomes. In turn, 

such knowledge has catalyzed studies to establish how 

genomic variants influence biological function, disease risk, 

and health.

9
Developing Genomic Technologies 

Dedicated attention to technology development has always driven genomics 

forward. Upon completion of the Human Genome Project in 2003, NHGRI 

launched a major technology development effort to reduce the cost of DNA 

sequencing by many orders of magnitude. The $1,000 Genome program set 

out to develop new methodologies that could generate a human genome 

sequence for $1,000 or less. Working in parallel and in collaboration with 

the private sector, NHGRI’s $1,000 Genome program has been a resounding 

success. Today, DNA sequencing looks very different than it did in the 1990s—

costs have dropped dramatically and the speed of sequencing genomes is 

remarkably faster. This progress has catapulted the field of genomics forward 

in profound ways.

Cataloging Functional Genomic Elements 

A detailed understanding of all functional sequences in the human genome 

and other well-studied genomes is essential for elucidating the genomic bases 

of biology, health, and disease. NHGRI’s ENCyclopedia Of DNA Elements 

(ENCODE) Project is compiling a catalog of functional elements in the human 

and mouse genomes. A parallel project, called modENCODE, has done the 

same for the genomes of two classic model organisms: Drosophila (a fruit 

fly) and nematode (a worm). Consortia of researchers working on ENCODE 

and modENCODE have employed laboratory and computational approaches 

to generate and analyze very large genomic datasets, and have made all the 

results and information freely available to the scientific community. These 

efforts have helped to define a path forward for the complete functional 

characterization of genomes. 

Understanding Gene and Genome Function

Having a catalog of genes and other functional elements in the human 

genome is just the first step toward understanding the complexities 

of genome function. The next step requires knowledge about how the 

different genomic elements interact to perform biological processes—

for example, how genomic sequences regulate where and when genes 

are switched on and off. NHGRI’s Genomics of Gene Regulation 

(GGR) initiative aims to develop and explore experimental models for 

explaining how functional genomic elements work in concert (i.e., their 

biological choreography). A complementary effort, the NIH Common 

Fund’s Knockout Mouse Phenotyping Project (KOMP2), led by NHGRI, 

is characterizing a large collection of ‘engineered’ mice, each with a 

specific gene ‘knocked out’ (i.e., inactivated). This effort is providing key 

insights into the function(s) of individual genes.

Genome Structure and Function

10
 

 

 200 

 400 

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 800 

 1,000 

 1,200 

 1,400 

 1,600 

2002200320042005200620072008200920102011201220132014

Terabases 

Year

DNA Sequence Production 

Cataloging Genomic Variation 

Near the end of the Human Genome Project, several systematic efforts began 

to catalog genomic variants (i.e., genome sequence differences) in the human 

population. Two early efforts were the Single-Nucleotide Polymorphism 

(SNP) Consortium and the International HapMap Project. More recently, the 

1,000 Genomes Project sequenced the genomes of ~2,500 individuals from 26 

geographically dispersed populations, yielding information about close to 100 

million genomic variants in the human population. This effort also provided 

more complete views of the content and pattern of variants within a typical 

person’s genome, yielding early insights into how each person’s genome uniquely 

operates. In a broader context, knowledge of genomic variation is also used for 

searching for genes that play a role in human disease, for performing forensic 

DNA analysis, for establishing more refined views of our near and distant 

ancestors, and for revealing important aspects of human population history.

Understanding How Variation Affects Function

Compiling catalogs of genomic variants represents an initial step in 

understanding how variation affects biological function. Some variants are 

inconsequential, some confer risk for disease, and some are beneficial, offering 

protection against disease or making someone a good candidate for a particular 

medication. The NIH Common Fund’s Genotype-Tissue Expression (GTEx) 

project, led by NHGRI, aims to increase understanding about how genomic 

variants contribute to human disease. Specifically, GTEx is establishing how 

some genomic variants influence gene expression. A complementary NHGRI 

program is developing highly innovative computational approaches for 

characterizing variants in non-protein-coding regions of the human genome 

that play a role in diseases or other traits.

Performing Genomics Research at Scale

NHGRI research programs provide ever-growing capacities for genome 

sequencing and genome analyses—at increasing speeds and decreasing 

costs. Such efforts have made seminal contributions to the understanding 

of genome structure and evolution, for example by sequencing the genomes 

of hundreds of organisms and thousands of humans. Such efforts dovetailed 

with large programs to identify functional genome sequences and to catalog 

human genomic variation. The key characteristic of all of these programs 

has been scale—each being capable of generating prodigious amounts of 

genomic data and doing so in a way that is much more complete, rapid, and 

cost-effective than cumulative small-scale efforts. An inherent (but exciting) 

consequence of such scale is the challenge of then handling and analyzing the 

resulting massive genomic datasets.

11
Genomics and Human Disease

12
Establishing the Role of Genomic Variants in Health and Disease

Determining the genomic bases of rare and common diseases

Genomic variants play a key role in essentially all human 

diseases. But the nature of that role is generally different for 

rare diseases versus common diseases.

Rare diseases (such as sickle cell anemia, cystic fibrosis, and 

Huntington’s disease) are most often caused by genomic 

mutations that disrupt a single gene. While other genomic 

variants and environmental factors may influence the 

severity of the disease, the fundamental cause is an altered 

single gene.

In contrast, common diseases (such as hypertension, 

diabetes, and mental illnesses), which constitute the bulk 

of the healthcare burden worldwide, generally result from 

a complex combination of multiple genomic variants and 

environmental factors. The latter typically play a greater 

role in common diseases than in rare diseases.

Advances in our understanding of the structure and 

function of the human genome, coupled with increasingly 

powerful tools for analyzing genomes, have markedly 

accelerated progress in elucidating the genomic bases of 

both rare and common diseases. Such progress has been 

most tangible with rare diseases. When the Human Genome 

Project began, researchers knew the identity of the altered 

genes responsible for ~60 rare diseases; today, that number 

exceeds 3,600—and is growing every week.

Studying common diseases is complex, but has been 

enormously aided by the advent of a detective-like strategy 

called a genome-wide association study (or GWAS), which 

involves scanning the genomes of thousands of affected and 

unaffected individuals in search of particular regions that 

harbor variants conferring risk for a common disease. The 

first successful genome-wide association study, published 

in 2005, revealed the genomic cause of a type of blindness 

called age-related macular degeneration; since then, more 

than 2,000 such studies have been reported, collectively 

giving critical clues about the location and identity of 

genomic variants that play a role in hundreds of common 

human diseases.

13
Rare Diseases 

An estimated 25-30 million Americans suffer from some type of rare disease 

(generally considered to be a disorder that affects fewer than 200,000 people). 

Of the roughly 7,000-8,000 rare diseases (also referred to as Mendelian 

disorders) described to date, researchers have determined the genomic bases 

for more than 3,600. The NHGRI Centers for Mendelian Genomics program 

aims to discover the underlying genomic causes of the remaining rare diseases 

using powerful new methods for genome sequencing and data analysis. These 

centers are scaling approaches for disease-gene discovery and developing 

collaborative partnerships with investigators around the world involved in 

studying and caring for patients with rare diseases.

Common Diseases

Tackling the monumental challenges associated with elucidating the genomic 

bases of common diseases requires cutting-edge approaches and sheer scale 

for genome analyses. The NHGRI Centers for Common Disease Genomics 

program is using these approaches to pursue very large studies of common 

diseases (including Alzheimer’s disease, diabetes, autism, and cardiovascular 

disease). The centers provide particular expertise in the development of 

novel study designs, the refinement of new genome-sequencing methods for 

use at large scale, and the increasingly challenging bioinformatics and dataintegration components of such studies.

The Genomics of Cancer 

Cancer is a disease of the genome, a direct consequence of genomic changes 

that cause cells to grow in an uncontrolled manner. The Cancer Genome 

Atlas (TCGA)—a joint venture of the National Cancer Institute and NHGRI—

has cataloged the genomic alterations found in more than 30 cancer types, 

facilitating studies of how those changes may play a role in disease. TCGA 

has used the newest genomics methods (in particular, genome sequencing) 

and data-analysis approaches to rigorously interrogate the genomes of 

more than 10,000 cancer specimens. TCGA has changed the face of cancer 

research in many ways, defining new research directions and accelerating 

the development of new cancer diagnostics and therapeutics. The resulting 

information has allowed specific cancer types (e.g., breast cancer) to be more 

accurately diagnosed as a collection of distinct diseases, with each major 

subtype requiring different clinical management.

Genomics and Human Disease

14
Genome Sequencing at the NIH Clinical Center

The NIH Clinical Center is America’s research hospital—and the largest 

hospital in the world dedicated to clinical research. It has become a valuable 

venue for major clinical genome-sequencing programs. For example, the 

ClinSeq® Project is investigating the use of genome sequencing as a tool 

for clinical research and clinical care. By establishing a ~1,500-adult cohort, 

evaluating their health and disease status, and conducting detailed genomic 

analyses, ClinSeq® is studying the genomic architecture of disease, the clinical 

implementation of genomic technologies, and the disclosure of genomic 

information to patients. Another initiative, called the Clinical Center 

Genomics Opportunity, aims to generate genome-sequence data for >1,000 

patients being studied by investigators across the NIH, thereby helping to 

jump-start genomic medicine implementation more broadly throughout the 

NIH Clinical Center. 

Global Genomics 

Understanding that the benefits of genomic advances must be realized 

throughout the world, NHGRI aims to stimulate genomics research on a 

global level. For example, Human Heredity and Health in Africa (H3Africa) 

is an NIH Common Fund program, led by NHGRI, that aims to enhance 

the use of genomic approaches to study the genetic and environmental 

determinants of disease in Africa. The program provides direct support to 

studies led by African scientists that use genomic, clinical, and epidemiologic 

methods to identify hereditary and environmental contributions to the risk 

of common, non-communicable disorders (such as heart and kidney disease) 

as well as communicable diseases (such as tuberculosis). H3Africa is enabling 

African scientists to use cutting-edge genomic and genetic approaches 

for disease studies, empowering African researchers to make important 

genomic discoveries, and establishing effective collaborations among African 

researchers on the African continent.

Electronic Medical Records and Genomics Research

Research that involves the integrative analysis of detailed clinical data and 

genomic information offers great promise for the study of human disease 

and the realization of genomic medicine. The Electronic Medical Records 

and Genomics (eMERGE) Network is developing best practices for using the 

electronic medical record (EMR) as a tool for genomics research. eMERGE 

investigators are also pursuing the discovery of genomic variants associated 

with clinical conditions identified using EMRs, studying the ethical, legal, and 

social issues involved in the use of EMRs for genomics research, and working 

to incorporate actionable (i.e., relevant) genomic risk factors into EMRs for 

use in clinical care. 

15
Genomic Medicine

16
Using Genomic Information to Advance Medical Care and Human Health

Applying genomics to clinical care and improving the effectiveness of healthcare

Early examples of the exciting potential of genomic medicine 

have already emerged. By using genomic technologies and 

findings, clinical care can be tailored to an individual’s 

unique, genomically influenced predispositions to disease 

and disability. Already a number of genomic applications 

have been deployed into routine clinical practice, such 

as the use of specific tumor mutations for guiding cancer 

treatment and genomic-based drug hypersensitivity testing 

prior to treatment for HIV/AIDS. These examples provide 

added enthusiasm for the additional research needed to 

capitalize on numerous genomic discoveries and to enable 

the realization of genomic medicine’s full potential.

NHGRI is investing in a number of research efforts to 

establish a robust foundation for genomic medicine. 

Studies are being performed to evaluate the impact of using 

genomic information for clinical care, operationalize genome 

analyses as a diagnostic tool, and assess the generalizability 

of genomic findings across populations and clinical settings. 

In fact, these nascent NHGRI genomic medicine programs 

are proving to be prototypes for broader efforts that aim to 

individualize medical care to advance human health, such as 

the recently launched Precision Medicine Initiative. In this 

way, NHGRI is not alone; other NIH Institutes and Centers as 

well as other government agencies, funding organizations, 

not-for-profit groups, and the private sector are actively 

working to advance genomic medicine. 

The journey to improved medical care and human health 

through effective application of genomics requires other 

important steps as well. Healthcare professionals need easy, 

accessible tools and systems, so that they can use genomic 

information for clinical decision-making; they also require 

training and education to learn how to use these new tools 

effectively. Patients need a basic understanding of genomics 

to communicate effectively with their healthcare providers 

and their own families, so that they can make key decisions 

about their medical care and other important life choices. 

Finally, the broader medical system needs to adapt to the 

ongoing genomic advances, so that clinical benefits are 

made rapidly and fairly available to all people.

17
Rare and Undiagnosed Diseases 

Undiagnosed diseases are conditions that even skilled physicians struggle 

to diagnose despite extensive clinical investigation. The disease may be one 

that is rarely seen, has never been described, or is a rare form of a more 

common disorder. Newly developed methods for genome sequencing now 

provide powerful approaches for deciphering the causes of such very rare, 

undiagnosed conditions. The Undiagnosed Diseases Network (UDN) is an 

NIH Common Fund program, led by NHGRI, involving a collaborative group of 

medical centers that systematically evaluates patients with serious conditions 

that have been undiagnosed despite intensive, sometimes years-long clinical 

examinations. With an emphasis on cutting-edge genomic studies combined 

with rigorous clinical evaluations, the program aims to identify best practices 

for the diagnosis and management of rare and new diseases and to improve 

the lives of patients living with undiagnosed conditions.

Genome Sequencing of Newborns 

Genomic technologies have advanced so dramatically over the past decade 

that the value of incorporating genomic information into medical care early 

in life (e.g., during the newborn period) can now be seriously considered, 

especially in light of the existing newborn genetic screening programs that 

have been in place for decades. The Newborn Sequencing in Genomic 

Medicine and Public Health (NSIGHT) program is a joint endeavor between 

NHGRI and the Eunice Kennedy Shriver National Institute of Child Health and 

Human Development that is conducting pilot research projects to investigate 

the implications, challenges, and opportunities associated with the clinical 

use of genomic information in the newborn period. This program is exploring, 

in a limited but deliberate manner, opportunities to use genomic information 

for broadening the identification and understanding of diseases that occur 

in the newborn period, and is also examining the legal and ethical issues 

surrounding such use.

Test-Driving Genomic Medicine 

Recognizing the opportunities for the clinical implementation of genomics 

in the coming decade, NHGRI is supporting studies that are essentially taking 

genomic medicine out for a ‘test drive.’ The Clinical Sequencing Exploratory 

Research (CSER) program supports a number of projects that collectively aim 

to develop technical specifications and standards for genome sequencing in 

the clinical setting, investigate methods for transmitting genomic data to 

healthcare professionals in a way that fits into the normal clinical workflow, 

explore regulatory requirements for the clinical applications of genomics, and 

study the ethical implications of returning unexpected genomic information 

to patients. Capitalizing on the lessons learned from these and other studies, 

the Implementing Genomics in Practice (IGNITE) network of researchers 

aims to examine and refine best practices for the effective implementation, 

diffusion, and sustainability of genomic medicine in diverse clinical settings; 

the information generated from the program will contribute to the growing 

knowledge base for the use of genomic information in patient care.

Genomic Medicine

18
Readying Healthcare Professionals for Genomics

To effectively move genomics into routine medical practice, clinicians need 

to be able to interpret genomic data and to make medical decisions based 

on reliable evidence. NHGRI is supporting several endeavors intended to 

ready front-line healthcare professionals for genomic medicine. The goal of 

the Clinical Genome Resource (ClinGen) is to establish a knowledge base 

of carefully curated information about genomic variants and their clinical 

significance. To enhance genomics education for healthcare professionals, 

NHGRI is developing online resources—such as the Genetics/Genomics 

Competency Center (G2C2)—that provide self-directed genetics and 

genomics learning materials for genetic counselors, nurses, physician 

assistants, pharmacists, and physicians. NHGRI also co-leads the InterSociety Coordinating Committee on Practitioner Education in Genomics to 

promote the sharing and dissemination of genomic medicine educational 

materials among the numerous health professional societies that are the 

authoritative sources of information in their respective fields.

Changing Face of Infectious Disease Diagnostics

The advent of faster and cheaper DNA sequencing methods has created 

exciting new opportunities in clinical microbiology, especially related to 

public health and hospital epidemiology. The ability to very rapidly sequence 

microbial DNA from clinical samples is transforming infectious disease 

diagnostics and bringing systematic genomic surveillance of infectious agents 

into the mainstream. Examples are plentiful: elucidating how infections spread 

among patients and healthcare workers, identifying new and unexpected 

infection-causing microbes, and discovering new genes and modes by which 

microbes develop antibiotic resistance. Today, epidemiologists can much more 

rapidly trace the origins of food-borne illnesses and compare the genomes 

of infection-causing microbes from different patients. Finally, genome 

sequencing is being used for biodefense and public health purposes, such as 

identifying the genomic features of bacterial and viral strains that make them 

more infectious and tracing their origins in a detective-like fashion. Overall, 

genomic technologies are changing many traditional practices in clinical 

microbiology, providing a more rigorous means for detecting and monitoring 

infectious agents.

Pharmacogenomics 

Genomic variants play an important role in how our bodies metabolize drugs, 

which is why a drug may work for one individual but not for another or may have 

devastating side effects in only a small subgroup of patients. NHGRI is supporting 

several studies investigating how to use genomic information effectively to tailor 

decisions about the selection and dosing of drug therapies, an area known as 

pharmacogenomics. For example, the Electronic Medical Records and Genomics 

Pharmacogenomics (eMERGE-PGx) project is identifying gene variants involved in 

the response to commonly used drugs in nearly 9,000 individuals and testing how 

best to integrate that information into their electronic medical records for use in 

their clinical care. NHGRI is supporting this and similar programs (e.g., the IGNITE 

network) that share methods and tools so as to develop best practices for using 

genomic information to improve drug safety and effectiveness. Computerizing 

and streamlining such approaches, and making them work across diverse clinical 

settings and providers, will enable genomic medicine to be implemented broadly 

and simultaneously tailored to individual patients.

19
Genomics and Society 

20
Addressing the Societal Impact of Genomic Advances

Promoting the ethical and equitable integration of genomics into society

The founders of the Human Genome Project recognized 

that the information gained from mapping and sequencing 

the human genome would have profound implications 

for society. How would the new genomic knowledge be 

interpreted and used? Who should have access to an 

individual’s genomic information, and how can people 

be protected from its improper disclosure or use? Such 

questions gave rise to NHGRI’s Ethical, Legal, and Social 

Implications (ELSI) Research Program.

For the past quarter century, the ELSI Research Program has 

aimed to understand, anticipate, and address the impact 

of genomic advances for individuals and society, stimulate 

public discussion of relevant genomic issues, and help 

develop policy options that ensure the information is used 

for societal benefits.

NHGRI is also committed to examining the societal issues 

associated with large biomedical research projects. ELSI 

research components are therefore embedded within many 

major NHGRI-led projects to explore various important 

issues, such as how to recruit and include diverse populations 

in biomedical research and how to work with communities 

to disseminate information about research in a culturally 

responsive manner.

Such efforts involve ensuring transparent communication 

between researchers and study participants to promote 

participant understanding of two important issues: their 

role in research and the protections that are in place to 

safeguard their interests. For all of these activities, NHGRI 

staff have emerged as key consultants about genomics and 

society.

To enhance broader societal knowledge about genomics 

and its applications for improving personal and family 

health, NHGRI also leads several high-profile genomic 

educational activities aimed at students, educators, 

the general public, and healthcare professionals. These 

efforts aim to improve genomic literacy in many different 

communities.

21
Engaging Students in Genomics 

National DNA Day, held each April, commemorates the reporting of DNA’s 

double-helical structure by James Watson and Francis Crick in 1953 and the 

successful completion of the Human Genome Project in 2003. This annual 

celebration offers students, teachers, and the public exciting opportunities 

to learn about the latest advances in genomics research and explore what 

these advances may mean for their lives and, possibly, future careers. Each 

year, NHGRI partners with professional societies and advocacy groups to 

promote DNA Day, and supports DNA Day activities at schools, museums, 

libraries, and community centers around the country. The Institute also offers 

educational resources, sends NHGRI researchers as DNA Day ambassadors to 

speak at various events, and communicates about DNA Day via social media.

Transdisciplinary ELSI Studies 

Many of the studies funded by the NHGRI ELSI Research Program involve 

investigators from multiple disciplines. The transdisciplinary nature of ELSI 

research allows highly innovative concepts, methods, and analyses to be 

focused on problems of broad relevance to genomic researchers and to 

society. The NHGRI Centers of Excellence in ELSI Research (CEER) program is 

a prototype effort to foster transdisciplinary research and training to facilitate 

the translation of ELSI findings to research, healthcare, and public policies. 

These centers promote intensive and sustainable interactions among basic 

genomic and genetic researchers, clinical and social scientists, and scholars 

from law, bioethics, and the humanities. CEER-based projects are investigating 

a range of multifaceted issues, including those related to clinical applications 

of genomics. CEER groups are also involved in training the next generation of 

genomics and society researchers.

Informing Public Policy

NHGRI has helped inform policies surrounding human subjects research, 

the incorporation of genomics into healthcare, and the sharing of genomic 

data in a manner that enables scientific discovery while protecting research 

participant privacy. NHGRI played a key role in the development and eventual 

passage of the Genetic Information Nondiscrimination Act (GINA) of 2008. 

The Institute also helped to shape policies on the patenting and licensing of 

intellectual property based on genomic discoveries. NHGRI collaborates with 

other federal partners, including the Federal Trade Commission (to examine 

advertising for products claiming a genomic basis for their use) and the Food 

and Drug Administration and the Centers for Medicare and Medicaid Services 

(to inform the oversight of genomic tests and targeted genomic-based 

therapies and how they are reimbursed by health insurers). The Institute also 

engages with private-sector and other non-governmental stakeholders (e.g., 

biotechnology companies and health advocacy organizations) to pursue 

common interests, promote discussions about important genomics issues, 

and identify potential partnership opportunities.

Genomics and Society 

22
Improving Public Genomic Literacy 

NHGRI is helping to prepare the public for a future in which the use of 

genomic information is a routine part of medical care and other aspects of 

life. Through community engagement activities, workshops, and forums, 

Institute staff work with diverse communities to identify opportunities 

to enhance genomic literacy. For example, in 2011, NHGRI launched an 

exciting partnership with the Smithsonian Institution to engage the public 

and promote genomic literacy. The centerpiece of this effort is a high-tech, 

high-intensity exhibition Genome: Unlocking Life’s Code, which was visited 

by more than 3.6 million people at the Smithsonian’s National Museum of 

Natural History in 2013-2014, and is now traveling to several venues around 

North America. The exhibition shows the revolutionary nature of genomics 

and the impact on fields as varied as biodiversity and medicine; it also raises 

important issues relevant to individuals, communities, and society. Affiliated 

with the exhibition have been extensive public engagement programs, many 

of which have been recorded and made freely available on the Internet.

Embedding ELSI Research 

NHGRI supports an increasing number of ELSI research projects that are 

‘embedded’ within larger programs. For these projects, behavioral and social 

scientists, legal scholars, and bioethicists work side-by-side with genomics 

researchers to identify and address the ethical, legal, and societal issues that 

arise and to anticipate downstream issues that may emerge. These ELSI research 

projects have become a vital component of several large NHGRI initiatives, 

including sequencing the genomes of newborns, incorporating genomic 

information into electronic medical records, and cataloging human genomic 

variation. Directly coupling ELSI and genomics research has proven to be 

mutually beneficial to all researchers and helps to ensure that the resulting work 

addresses the pressing genomics and societal issues of the day. 

Genomics and Health Disparities

NHGRI is committed to supporting research that increases our understanding 

of health disparities. This work includes studying the diseases and conditions 

that contribute to health disparities and examining the barriers to ensuring 

that genomic medicine is available to all patient populations. The Institute 

seeks to advance research to define relevant gene-environment interactions, 

including the identification of inherited susceptibility factors for disease 

and the development of technologies for the reliable and reproducible 

measurement of relevant environmental contributions. NHGRI is also 

committed to increasing the inclusion of research participants from diverse 

ancestral backgrounds in large genomic studies, so as to improve our 

knowledge about the role of genomic variation in health and disease across 

all populations. 

23
Genomics and Data Science 

Facilitating the assimilation, management, and analysis of large amounts of genomic data

Modern-day genomic technologies generate massive amounts of data 

at lower and lower costs. In fact, genomic researchers now readily 

produce far more data than they can analyze in real time. For example, 

while a human genome can now be sequenced in a day, analyzing the 

resulting data to obtain a complete and meaningful interpretation 

remains a lengthy and laborious task. Similar situations are now 

regularly encountered with other research technologies. 

Data science in the context of genomics (and biomedical research more 

broadly) involves the study of increasingly large, complex, and diverse 

datasets. This overlaps other related areas, such as bioinformatics, 

computational biology, biomedical informatics, information science, 

biostatistics, and quantitative biology—all of which, in turn, relate to 

the now-popular term ‘Big Data.’

Data science is a key component of projects across the spectrum 

of NHGRI-supported research. These efforts range from developing 

computational tools for analyzing genome-sequence data, to 

establishing and maintaining genomic databases that are accessible 

to scientists worldwide, to annotating reference genome sequences, 

to developing tools that facilitate clinical decision-making. In these 

studies, critical attention is being paid to genomic-specific issues 

related to data security, access, privacy, and management. With 

a growing focus on understanding the genomic bases of human 

diseases, researchers are developing computational approaches to 

predict the biological consequences of genomic variants; eventually, 

this work will lead to the design of computational tools that facilitate 

the implementation of genomic medicine. 

NHGRI’s data science efforts are also becoming increasingly aligned 

with broader NIH programs, including the Big Data to Knowledge 

(BD2K) effort and the Precision Medicine Initiative. Such synergies 

reflect the new data-intensive nature of all areas of biomedical 

research.

24
NHGRI‘s mission includes cultivating a large, strong, and diverse 

pool of future researchers, healthcare providers, and educators 

with appropriate expertise in genomics. For many years, NHGRI has 

supported training and workforce-development programs in the 

fundamental aspects of genomics—areas that were essential for 

completing the Human Genome Project and for the genomics efforts 

that immediately followed. To keep pace with the widening scope 

of the field, today’s programs have expanded to include training in 

genomic medicine.

NHGRI has a multitude of mechanisms to support genomics training: 

grants to teaching institutions, fellowships to individual trainees, loan 

repayment, internships, courses, and online resources. Such training 

opportunities are pervasive within both the Institute’s Extramural 

Research Program and Intramural Research Program.

The NHGRI Extramural Research Program offers a set of grant 

options that provide support to academic institutions for both preand postdoctoral trainees and for researchers already established in 

their careers. The various training programs are designed to develop 

trainees’ expertise in broad areas, such as genome structure and 

function, computational biology, and/or genomic medicine.

The NHGRI Intramural Research Program offers a diverse array of 

training programs. Pre- and postdoctoral trainees can conduct research 

in the laboratories of NHGRI investigators. In addition, the Institute 

offers a number of specific fellowship opportunities in areas such as 

medical genetics, medical biochemical genetics, genetic counseling, 

health disparities, education, and policy. NHGRI also conducts shortterm summer programs for students, teachers, and faculty.

All NHGRI training programs include a core commitment to maximize 

the diversity of the genomics workforce. The Institute develops 

research partnerships with minority-serving institutions to enhance 

their technical capabilities for conducting genomics research, builds 

relationships with individuals from underserved communities and 

minority organizations so as to be aware of their issues and concerns 

as they relate to genomics research, and provides opportunities for 

underserved students and researchers to pursue careers in genomics.

Training in Genomics 

Developing a strong workforce for genomics research and genomic medicine

25
In less than three decades, genomics has progressed 

from a just-named, emerging discipline led by a small 

community of trailblazing researchers to a vital area 

of biomedical research. Genomics has quickly become 

profoundly important for most aspects of biological 

inquiry, and is now poised to become a fundamental 

component of medical care.

With this transition, the field has gained relevance to a 

much broader audience. Once only relevant to biomedical 

researchers and, later, healthcare professionals, genomics 

is increasingly becoming important to patients (and 

friends and relatives of patients)—which means all of 

us. Indeed, the words “genome” and “genomics” are now 

regularly seen in the popular press, heard on the radio, 

and mentioned on television. In short, genomics is now 

highly relevant to society more broadly.

Since its inception, NHGRI has been a world leader in 

genomics research, training, education, and outreach. 

While the Institute’s origins were deeply rooted in the 

highly focused goals of the Human Genome Project, 

its mission and corresponding programs have grown in 

parallel with the expanding relevance of genomics; these 

now touch the entire landscape of biomedical research—

from very basic science to clinical implementation.

Looking onward to future horizons, the scope and 

relevance of genomics will no doubt continue to grow. 

Genomics will catalyze important scientific and medical 

advances on a regular basis, bringing new opportunities 

along with new challenges. NHGRI stands ready to 

pursue those opportunities and to address the associated 

challenges through its research programs, engagement 

efforts, and outreach initiatives.

At the launch of the Human Genome Project, the full 

potential of genomics was hard to fathom. Roughly 25 

years later, progress in genomics in terms of research 

achievements, technological developments, and societal 

integration has been nothing short of spectacular, 

bolstering NHGRI’s fundamental and core belief that 

genomics offers great promise and hope for improving 

the human condition.

The growing relevance of genomics

Future Horizons 

26
genome.gov
NIH Publication Number: 15-8011

2015