In 1990 biologists embarked on one of science’s most ambitious journeys of self-discovery: sequencing every base pair in our genetic code. A decade later, in February 2001, the publicly funded Human Genome Project (HGP) and privately funded Celera Corporation, led by J. Craig Venter, separately published their drafts of the human genome. In 2003 the HGP released a full map. Then...nothing. Finding connections between the genome and disease proved far more complicated than biologists had hoped (or feared). Common diseases turn out to be caused by intricate gene interactions, and genes respond to environmental signals in confusing ways. But just when it seemed as if the Human Genome Project would take us nowhere fast, the burgeoning field of bioinformatics—treating DNA as data—came of age.
Studies of genetic markers had already proved invaluable for evolutionary biology and forensic science, aided by chemist Kary Mullis’s 1983 invention of PCR, an efficient way to amplify minute fragments of DNA. Uploading genomes onto a computer opened rich new possibilities. Parsed by computer, digital DNA began revolutionizing the study of human ancestry. Today molecular biologist Leroy Hood, president of the Institute for Systems Biology in Seattle, is trying to use the tools of bioinformatics to create a kind of medicine he calls P4: predictive, personalized, preventive, and participatory. By analyzing genomes within a nuclear family, he has discovered the gene linked to Miller’s syndrome, a craniofacial defect. Next he aspires to tackle more common but genetically and environmentally complex conditions—cardiovascular, neurodegenerative, and autoimmune disease. “In 5 to 10 years, each individual patient will be surrounded by a virtual cloud of billions of data points,” he predicts. “We’ll be able to mine that information and gain deep insights into health and disease.”
Treated as information, DNA can also be manipulated to create designer organisms. Molecular biologist Venter recently used this approach to create what he calls the first synthetic organism. He sees a day coming soon when DNA can be written like software and custom microbes can be “programmed” to generate inexpensive energy, fertilizer, drugs, or food. One potential goal: turning human waste into clean water, electricity, or both. Another: fighting global warming by sucking carbon dioxide from the air. “Could we make artificial steaks?” Venter asks. “We’re limited only by our imagination.”
Pamela Weintraub is a senior editor at DISCOVER and author of Cure Unknown: Inside the Lyme Disease Epidemic, for which she won the Medical Writers Association Book Award in 2009.