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Decoding DNA
How sequencing the genome is driving economic growth,
advancing healthcare, protecting the environment, and
improving public health and welfare
1. What is a genome?
Enabling personalized medicine
Your genome is your body’s instruction book. According
to the National Institutes of Health, “Life is specified
by genomes. All organisms including humans have a
genome that contains all of the biological information
needed to build and maintain a living example of that
organism. The biological information contained in a
genome is encoded in its deoxyribonucleic acid (DNA)
and is divided into discrete units called genes.”
Decoding DNA
Whole genome sequencing involves documenting each of the so-called base pairs of nucleotides that make up some
three billion units of DNA in our genetic code.
1
2
nine
T)
ne (
ymi
Th
sine
Cyto
(C)
Ade
1. The cell: within the nucleus is a
complete set of all of our genes;
this is called the genome.
3. The gene: a stretch of DNA that contains the
information necessary to make proteins, which
make up each part of our bodies.
2. T
he chromosome: a package
of genes and other DNA that,
if uncoiled, would stretch more
than six feet.
4. The bases: the base pairs always come together
in the same way—A with T and G with C—but the
sequences along the molecule vary, encoding
the genetic information.
(A)
nine
Gua )
(G
$100
million
4
The declining cost of sequencing
the human genome
75
3
50
2011:
$10,497
25
Genetic information can also be used to promote personalized medicine by identifying treatments that are
likely to be safer or more effective.
Putting it into practice
One test instead of many
Individuals with a particular genetic mutation (estimated to
be 14% of the population) do not respond to Plavix, one of the
most widely prescribed drugs in the world. However, Plavix was
routinely prescribed to these nonresponding patients prior to the
development of this biomarker. Doctors can now determine the
most effective treatment based on an individual’s genetic makeup.
Today physicians order many genetic tests for
patients. In fact, more than 2,000 such tests exist.
Once approved for clinical use, affordable wholegenome sequencing could obviate the need for
multiple, expensive genetic tests.
3. How is genetic sequencing improving agriculture, energy, and the environment?
Agricultural advancements
With the worldwide population expected to reach eight billion by 2025, declining per capita food yields in Africa, and
malnourishment rates estimated at 20%, plant and agriculture researchers are using DNA sequencing to tackle some
of humanity’s most pressing concerns. This extraordinary work includes identifying and detecting sequence variations
tied to important agronomic traits such as increased yields and the ability to grow in unfavorable conditions.
Putting it into practice
Energy and environment
A $40 million effort is underway to boost Africa’s health and
economic vitality by sequencing and breeding some of the
continent’s most important but neglected native crops. These
genome sequences will be made freely available to scientists
around the world to use with the most advanced breeding
techniques and technologies to develop new varieties of crops
that are more nutritious, produce higher yields, and are more
tolerant of environmental stresses, such as drought.
Scientists are using DNA sequencing to develop new
sustainable energy sources that emit fewer pollutants
by identifying plant strains that are resistant to drought
and pests, and are able to thrive in locations not
desirable for food crops.
0
2003
‘07
‘11
Illustration by Christopher Short for the Wall Street Journal. Sources: National Human Genome Research Institute (sequence chart); Associated Press
2. How is the sequencing of DNA advancing healthcare?
4. How is genetic sequencing improving public health and welfare?
Improving the safety of our food supply
Putting it into practice
DNA sequencing allows researchers to quickly
detect and identify the pathogens that lead to
food-borne illnesses.
In 2011, gene sequencing played a critical role in identifying the
source of a deadly E. coli outbreak that swept across Europe. It
took scientists just two days to sequence the entire genome of this
organism and gain lifesaving insights into why it was so dangerous.
Solving medical mysteries
Since many diseases have a genetic component, DNA sequencing allows researchers to decode an individual’s
genetic makeup and identify errors that are causing or contributing to disease.
Putting it into practice
• 14-year-old twins Alexis and Noah Beery were diagnosed with
cerebral palsy as toddlers. But a decade later, when scientists
at Baylor College of Medicine agreed to sequence the twin’s
genomes, their doctor discovered that the Beery’s symptoms
were the result of an inherited gene variant that resulted
in low levels of certain neurochemicals. Because of genetic
sequencing, Alexis and Noah were able to quickly get the
right treatment and have seen remarkable improvements.
2
• In 2010, Nic Volcker was a six-year-old Wisconsin boy who had
already spent 700 days of his short life in a hospital. Doctors
conducted dozens of tests on individual genes and on his
immune system, yet they were unable to reach a diagnosis.
Following whole-genome sequencing, doctors were able to
identify a relatively simple treatment that led to life-changing
improvements within just a couple of weeks. “The tools available
to make this diagnosis,” Nic’s doctor wrote, “were not available
when the child first (was hospitalized) four years ago.”
5. Where do things stand today?
Since the launch of the Human Genome Project in 1990,
enormous progress has been made in gene sequencing
technology and genetic research. In 2003, the first map
of the human genome—the sequence of three billion
base pairs that make up human DNA—was published
and made available for researchers worldwide. That
year, a whole-genome sequence cost $100 million.
This year, Life Technologies started taking orders for
a gene sequencer that will map a full human genome
in one day for $1,000. As sequencing has become
affordable, its use in research has exploded.
Since whole-genome sequencing is currently not
approved for clinical use by the US Food and Drug
Administration (FDA), the power of sequencing has
been demonstrated through approved clinical research
studies. But sequencing manufacturers are already
in discussions with the FDA about potential clearance
pathways for more widespread clinical use.
3
The economic impact
According to a 2011 Battelle report, the federal
government’s $3.8 billion investment in the Human
Genome Project has generated $796 billion in
economic output and created 310,000 jobs within
the US alone. Because sequencing is a fundamental
technology that will impact health, energy, the
environment, and more, it is widely thought to
be one of the most important technologies of our time.
In fact, the National Journal called it “The Next Big
Thing,” and foreign governments from Great Britain
to China have prioritized investments in sequencing
technologies and their application as an economic
development strategy.
For more information on any of the topics discussed in this document, please contact:
Janet Lynch Lambert ([email protected]) or Amy Muhlberg ([email protected])
Whole Genome Sequencing is for Research Use/Investigational Use Only.
Not intended for any animal or human therapeutic or diagnostic use.
© 2012 Life Technologies Corporation. All rights reserved. The trademarks mentioned herein are the
property of Life Technologies Corporation or their respective owners. Printed in the USA. CO25210 0412
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