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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 needed to build and maintain a living example of that Genetic information can also be used to promote personalized medicine by identifying treatments that are
to the National Institutes of Health, “Life is specified organism. The biological information contained in a likely to be safer or more effective.
by genomes. All organisms including humans have a genome is encoded in its deoxyribonucleic acid (DNA)
genome that contains all of the biological information and is divided into discrete units called genes.”
Putting it into practice One test instead of many
Individuals with a particular genetic mutation (estimated to
Today physicians order many genetic tests for
be 14% of the population) do not respond to Plavix, one of the
patients. In fact, more than 2,000 such tests exist.
most widely prescribed drugs in the world. However, Plavix was
routinely prescribed to these nonresponding patients prior to the
Once approved for clinical use, affordable whole-
Decoding DNA genome sequencing could obviate the need for
development of this biomarker. Doctors can now determine the
Whole genome sequencing involves documenting each of the so-called base pairs of nucleotides that make up some most effective treatment based on an individual’s genetic makeup. multiple, expensive genetic tests.
three billion units of DNA in our genetic code.

1. The cell: within the nucleus is a 3. The gene: a stretch of DNA that contains the
complete set of all of our genes;
1
this is called the genome.
information necessary to make proteins, which
make up each part of our bodies. 3. How is genetic sequencing improving agriculture, energy, and the environment?
2. T
 he chromosome: a package 4. The bases: the base pairs always come together
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of genes and other DNA that,
Agricultural advancements
in the same way—A with T and G with C—but the
if uncoiled, would stretch more sequences along the molecule vary, encoding With the worldwide population expected to reach eight billion by 2025, declining per capita food yields in Africa, and
than six feet. the genetic information.
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
(A)
nine $100
tied to important agronomic traits such as increased yields and the ability to grow in unfavorable conditions.
Ade million The declining cost of sequencing
T)
ne ( 4 the human genome
Th ymi nine
Gua )
sine
(G Putting it into practice Energy and environment
Cyto 75
(C) A $40 million effort is underway to boost Africa’s health and
Scientists are using DNA sequencing to develop new
economic vitality by sequencing and breeding some of the
sustainable energy sources that emit fewer pollutants
3 continent’s most important but neglected native crops. These
50
genome sequences will be made freely available to scientists
by identifying plant strains that are resistant to drought
2011:
$10,497 around the world to use with the most advanced breeding and pests, and are able to thrive in locations not
25 techniques and technologies to develop new varieties of crops desirable for food crops.
that are more nutritious, produce higher yields, and are more
tolerant of environmental stresses, such as drought.
0
2003 ‘07 ‘11

4. How is genetic sequencing improving public health and welfare?


Illustration by Christopher Short for the Wall Street Journal. Sources: National Human Genome Research Institute (sequence chart); Associated Press

Improving the safety of our food supply Putting it into practice


In 2011, gene sequencing played a critical role in identifying the
DNA sequencing allows researchers to quickly
source of a deadly E. coli outbreak that swept across Europe. It
2. How is the sequencing of DNA advancing healthcare? detect and identify the pathogens that lead to
took scientists just two days to sequence the entire genome of this
food-borne illnesses.
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.
5. Where do things stand today?
Putting it into practice Since the launch of the Human Genome Project in 1990, in one day for $1,000. As sequencing has become
• 14-year-old twins Alexis and Noah Beery were diagnosed with • In 2010, Nic Volcker was a six-year-old Wisconsin boy who had enormous progress has been made in gene sequencing affordable, its use in research has exploded.
cerebral palsy as toddlers. But a decade later, when scientists already spent 700 days of his short life in a hospital. Doctors technology and genetic research. In 2003, the first map
at Baylor College of Medicine agreed to sequence the twin’s
Since whole-genome sequencing is currently not
conducted dozens of tests on individual genes and on his of the human genome—the sequence of three billion approved for clinical use by the US Food and Drug
genomes, their doctor discovered that the Beery’s symptoms immune system, yet they were unable to reach a diagnosis. base pairs that make up human DNA—was published Administration (FDA), the power of sequencing has
were the result of an inherited gene variant that resulted Following whole-genome sequencing, doctors were able to and made available for researchers worldwide. That been demonstrated through approved clinical research
in low levels of certain neurochemicals. Because of genetic identify a relatively simple treatment that led to life-changing
sequencing, Alexis and Noah were able to quickly get the
year, a whole-genome sequence cost $100 million. studies. But sequencing manufacturers are already
improvements within just a couple of weeks. “The tools available
right treatment and have seen remarkable improvements. to make this diagnosis,” Nic’s doctor wrote, “were not available This year, Life Technologies started taking orders for in discussions with the FDA about potential clearance
when the child first (was hospitalized) four years ago.” a gene sequencer that will map a full human genome pathways for more widespread clinical use.

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The economic impact
According to a 2011 Battelle report, the federal be one of the most important technologies of our time.
government’s $3.8 billion investment in the Human In fact, the National Journal called it “The Next Big
Genome Project has generated $796 billion in Thing,” and foreign governments from Great Britain
economic output and created 310,000 jobs within to China have prioritized investments in sequencing
the US alone. Because sequencing is a fundamental technologies and their application as an economic
technology that will impact health, energy, the development strategy.
environment, and more, it is widely thought to

For more information on any of the topics discussed in this document, please contact:
Janet Lynch Lambert (janet.lambert@lifetech.com) or Amy Muhlberg (amy.muhlberg@lifetech.com)

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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