The Human Genome Project's Legacy

This year, scientists celebrated the 50th anniversary of the discovery of the DNA double helix by finishing the herculean task of deciphering all 3 billion bits of the human genetic code. The human genome project was a technological tour de force that spanned 13 years and cost $2.7 billion.

The project also is the start of what’s expected to be an explosion of data about human biology. An exponentially increasing accumulation of biological data will be the real legacy of the human genome project, says George M. Church, professor of genetics at Harvard Medical School. It wasn’t that decoding the genome led to a slew of fundamental discoveries about DNA; there were few, in fact.

But the technological advances and attitude changes fostered by the huge project transformed biology from a slow process of uncovering the facts of life into an information science. "We are becoming information junkies," says Church.

Systems biology is the buzzword for the information-intensive study of living things. In the past, one researcher might spend three years studying one gene. Now, using technologies pioneered by the human genome project, that same researcher will measure the activity of hundreds of genes in just a few days. In the coming decades, biologists will use large-scale techniques to capture information about the thousands of proteins and other components of living cells, in addition to DNA. With a comprehensive understanding of the molecular networks that control life, some scientists think they will have the key to controlling disease and aging.

The process will cost less in the future too. Experts predict that in 10 years, a full genomic analysis on one person will take an afternoon and cost less than $1,000.

With data collection going into overdrive, it’s hard to imagine what milestone researchers will be celebrating on the 100th birthday of the discovery of the double helix in 2053.

Church believes that in 50 years, doctors will be treating disease by rewriting the genetic code, changing any gene in any cell in the body at will. "You program your computer by sticking in a detailed set of instructions. In that way you micromanage your computer—this is micromanaging your body," he says. Instead of prescribing medicines to control chronic conditions such as high blood pressure, doctors might dispense a sort of genetic tune-up, dialing genes up or down or swapping out DNA parts, to keep you chugging along.

Some scientists are more conservative in their outlook for the next 50 years.

Jill P. Mesirov, associate director and chief informatics officer at the Whitehead/MIT Center for Genome Research, says she doesn’t believe we will be rewriting our own code, but she does think that we’ll have more effective medicines based on extensive analysis of the genes and proteins in individual patients. "In 25 to 50 years, we’ll look computationally at molecular profiles of cancer patients and use that to tailor their treatment," she says.

Mesirov envisions knowledge bases where doctors will enter information either through natural language or visual interfaces. After a doctor reports symptoms and the results of lab tests—including genetic and molecular information—the knowledge base will search accumulated data and send back a probable diagnosis and suggested courses of treatment.

But despite all the data, biology will remain inexact. In most cases, genes are not destiny; they only impute probabilities. And Mesirov questions what progress will bring. Will insurance companies refuse to pay for a costly cancer treatment if the patient’s chance for survival is only 25 percent? "Whatever happens, the faster we succeed, the greater the ethical issues will be," says Mesirov.

To comment on this article and other CIO content, visit us on Facebook, LinkedIn or Twitter.
NEW! Download the State of the CIO 2017 report