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Introduction: The Raw Materials of the Bioinformation Age

On June 26, 2000, it was announced that the sequence of letters representing the genetic code of a human being was nearly complete. This accomplishment came five years ahead of schedule. Although ten years after the official project had begun, the actual sequencing and assembly took only ten months to complete by a private company. The public consortium had also achieved a rough draft of the human genome publicly available to anyone with an Internet connection. A remarkable convergence of computing power and biological knowledge has made the pipe dreams of the past the realities of the present. 

If the letters of the genetic code are thought of as composing a book, then each of us, as well as every other creature on Earth, may be represented by a slightly different book. If we compared the books of two people, we would find virtually identical text for pages and pages, the correspondence only occasionally interrupted by differences of often only a single letter. We would also find a remarkable similarity between our own book and that of a frog, tree, or even yeast. 

We cannot read this book from cover to cover. Its length bears no obvious relation to the complexity of the creature it describes. An amoeba's book is about two hundred times the length of a human's. The great majority of the letters appear to have no function in the human body. Uncovering the book's secrets is not as simple as translating a text from one language to another. This is not just a new language; it is a new type of information. There is no Rosetta Stone for understanding the language of life. It is only by comparison with other organisms, direct manipulation, and simulation that we will gradually come to understand just what this sequence of letters means. 

Our efforts to understand the text have focused on identifying those parts of the text that are actually used to construct proteins, the fundamental biological units that make up a living organism. These bits of text, called genes, make their way out of the nucleus of a cell in a form called messenger RNA, or mRNA, to build the protein molecules whose activities make us all unique. If two genes differ by a single letter, they will construct different proteins. These slight differences at the molecular level give rise to much of the great diversity we have inherited among the human population.

Sometimes a picture is worth a thousand words. Here is a series of images to help understand what DNA is and what it does in the cell. The links in the Genetics 101 sidebar are useful resources to get up to speed quickly on the science of genetics. 

We can sense many of the differences between individuals, that one person is taller than the next, that one is more gregarious, that another is more cunning. Some differences, if not most, are due to life experience. Undeniably, many are influenced by genetic coding. Even traits arising out of human experience may be in some way shaped by a genetically influenced way of understanding those experiences, just as genetic expression (the process by which proteins are made from the instructions encoded in DNA) is influenced by our interactions with the outside world. 

Medical diagnosis has for quite some time been expanding our ability to detect differences between people. It is possible to identify those at risk for heart attack, to identify those infected with a disease before symptoms appear, and to identify many internal differences through x-ray, sonogram, or MRI. New technologies that allow us to cheaply read and understand an individual's genetic code promise to greatly expand our ability to sense differences between individuals -- differences in their susceptibilities and proclivities.

Differences among people have been a great asset of humanity, allowing us to achieve many feats that perhaps no one type of person could achieve in any amount of time. They have also been the source of warring, invidious discrimination, and hatred. What should we expect from this new type of characeristic? Unlike so many other distinctions we have historically drawn between groups of people, the genetic characteristics of an individual may actually have some rational relevance to an individual's abilities and weaknesses. 

We are a society that, through risk assessment and management, has made a conscious decision that not all can be protected from the incidental harms created by our industry. As we acquire the capability to know with increased certainty exactly which individuals our activities place in jeopardy, we will face a number of moral choices. As our knowledge of risk is focused from generic groups to individuals, will we also insist that the burden of mitigating risk fall increasingly on individuals? The following hypothetical visions of the coming genetic revolution explore several facets of this key question. 

Plaintiffs in the Post-Genome Era: The first scenario examines a social arena in which new technologies have historically been rapidly adopted -- tort litigation. Unlike regulation by agencies, the scientific claims of a tort plaintiff are seldom subject to lengthy, rigorous investigation from throughout the scientific community. A tort case is typically a one-shot deal, with the evidence aimed to be sufficiently sound to make it past a judge and sufficiently convincing to persuade a jury over the objections of the other side's experts. 

  • Will the increasing availability of individualized information regarding risk, exposure to toxic chemicals, and disease processes cause a dramatic intensification of toxic tort litigation? 
  • To what degree might an expanding class of successful plaintiffs displace larger, social judgments about risk? 
  • What exactly will such plaintiffs be required to show, and will they be willing to undergo the necessary steps to recovery? 

Grocery Store Genetics: The next scenario explores the potential ubiquity of genetic technologies in the near future. Many have argued for a society in which individuals have access to and complete control over their genetic information. Suppose people carry "gene cards" that are able to alert them of risks they face from environmental exposure, pharmaceuticals, or consumer products. 

  • Is individual empowerment really utopia? 
  • Is it possible genetic discrimination or genetic castes could appear even in a world of absolute genetic privacy? 
  • Will putting the ability to mitigate risks in the hands of consumers reduce incentives to eliminate the sources of those risks when they also prove deleterious to wildlife and overall environmental quality? 
  • How will the ability to alter our own basic biology affect the values that underlie our environmental protection measures? 

International Toxicity: A group of workers in a third world country labor each day to recycle lead acid batteries bound for America and Europe. Some of the workers are genetically more susceptible to the toxic effects of the lead and other chemicals encountered in the factory. 

  • Will these workers have the resources to find out? 
  • Will there be a "genetic divide" between those who can afford to know their genetic information and to use it to their advantage and those who cannot afford to do so? 
  • How might new technologies be used by other cultures with different value systems? 

Challenges and Opportunities in the Genomics Age: The conclusion explores the simultaneous potential for genetic technologies to enhance and to threaten our common humanity and our continued viability. What social structures exist or are needed to deal with these challenges? 

Next section: Plaintiffs in the Post-Genome Era

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Rosetta Stone: Front Page
Plaintiffs in the Post-Genome Era
Grocery Store Genetics
International Toxicity
Conclusion: Challenges and Opportunities in the Genomics Age
Slide Show
Thane Kreiner
Thane Kreiner, Ph.D.
V.P., Corporate Operations and Communications of Affymetrix discusses how a gene chip array works and the use of genetic information.
Video: Gene Chip Array   56k  T1
Video: Genetic Information
  56k  T1
Click here for text version.
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Richard Sharp,
Bioethicist at the National Institute of Environmental Health Sciences, explains what our genes might tell us.
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External Links
Genetics 101
Glossary of Genetic Terms, with audio and video, NHGRI
Glossary and Acronyms, Environmental Genome Project
Genetics: The Basics, DOE
DNA from the Beginning, animated primer on the basics, Cold Spring Harbors Laboratory
Genome Gateway, a comprehensive genomics web resource.

The Announcement
President Clinton: Announcing the Completion of the First Survey of the Entire Human Genome, June 26, 2000
Wired News: Human Genome: Because They Could 6/26/00
TIME: The Race Is Over 7/3/00
National Human Genome Research Institute Press Release 6/26/00

Perspectives on the Achievement
Wired News: Negotiating Gene Science Ethics 6/26/00
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