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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

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    Thym ine (

    T) Aden

    ine ( A)

    Guan ine

    (G) Cytos

    ine

    (C)

    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. The cell: within the nucleus is a complete set of all of our genes; this is called the genome.

    2. The chromosome: a package of genes and other DNA that, if uncoiled, would stretch more than six feet.

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

    3. The gene: a stretch of DNA that contains the information necessary to make proteins, which make up each part of our bodies.

    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.

    75

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    0 2003 ‘07

    2011: $10,497

    ‘11

    The declining cost of sequencing the human genome

    $100 million

    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.”

    1. What is a genome?

    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.

    2. How is the sequencing of DNA advancing healthcare?

    Putting it into practice 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.

    One test instead of many Today physicians order many genetic tests for patients. In fact, more than 2,000 such tests exist. Once approved for clinical use, affordable whole- genome 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 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.

    4. How is genetic sequencing improving public health and welfare? Improving the safety of our food supply DNA sequencing allows researchers to quickly detect and identify the pathogens that lead to food-borne illnesses.

    Putting it into practice 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.

    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.

    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.

    • 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.”

    Enabling personalized medicine Genetic information can also be used to promote personalized medicine by identifying treatments that are likely to be safer or more effective.

    Energy and environment 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.

  • lifetechnologies.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

    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)

    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.

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