By Kevin Davies

June 10, 2005 | In 1991, a group of scientists led by Stanford University geneticist Luca Cavalli Sforza proposed an international program called the Human Genome Diversity Project. The idea was to collect and analyze DNA from indigenous peoples around the globe. In their manifesto, the group states: “It would be tragically ironic if, during the same decade that biological tools for understanding our species were created, major opportunities for applying them were squandered.”

But squandered they were — the organizers failed to win the trust of indigenous groups who, fearing exploitation and discrimination, doomed the Diversity Project before it had barely begun.

A decade later, the privately funded National Genographic Project hopes to learn from past mistakes and produce a definitive DNA database of human genetic diversity. The 5-year, $40-million endeavor is a joint production of the National Geographic Society, IBM, and the Waitt Family Foundation (the founder of Gateway Computers). “We are deploying state-of-the-art science and technology to map our journey across the planet,” National Geographic president John Fahey says.

The project has been hailed as a “virtual museum of human history” and the “moonshot of anthropology” by team leader, geneticist, and author Spencer Wells. Wells and his international “dream team” of population geneticists will obtain blood samples from populations around the globe, the quicker the better, before any indigenous populations are lost or assimilated into the larger gene pool.

The analysis of mitochondrial and Y-chromosome markers, tracing female and male inheritance, respectively, will help trace population origins and migration routes over tens of thousands of years. For example, anthropologist Tudor Parfitt, dubbed the “Welsh Indiana Jones,” used DNA markers to support claims of Jewish ancestry by the Lemba tribe of Southern Africa. And last month, scientists presented new genetic data on early humans’ southerly path out of Africa.

An appealing aspect of the project is that anyone of any ancestral background can contribute. One simply buys a participation kit for $99.95, submits a DNA sample (via a cheek swab), and learns something about his or her ancestry. Sales of these kits will help fund a legacy project to support cultural preservation programs for indigenous groups.

For IBM, this project is “a grand challenge at the nexus of the life sciences and computing,” says Carol Kovac, industry general manager, IBM Life Sciences. Under the leadership of Kristopher Lichter (see Q&A, page 20), IBM is providing the core infrastructure to handle hundreds of thousands of DNA samples and build a secure database to store the anonymized data. Scientists from IBM’s Computational Biology Center, led by former molecular biologist Ajay Royyuru (see Nothing Ventured, March 2005 Bio•IT World, page 14), will use data-sorting techniques to interpret the results.

Migration Patterns

Not surprisingly, however, criticism of the Genographic Project has already flared up. The Indigenous Peoples Council on Biocolonialism has launched a petition against the project. “We’re not in the blood-selling business,” says Debra Harry, the group’s executive director. “We don’t need this speculative information — we already know where we come from.” (As of May 20, the petition had garnered a modest 216 signatures.)

Opponents fear that new scientific insights could contradict accepted theories of population origins and undermine the rights of such groups to inhabit their land. There are also bioethical and commercialization concerns. For example, members of the Havasupai tribe are suing a University of Arizona professor for conducting allegedly unauthorized genetic tests on donated DNA.

But the Genographic Project vows that none of the thousands of DNA samples processed will be used for medical or pharmaceutical research. Perlegen Sciences recently donated 1.5 million single nucleotide polymorphisms typed in Americans of European, African, and Chinese ancestry to the public databases to aid the International HapMap Project. While that information will spur the search for complex disease genes and ultimately new drugs, the Genographic Project believes that studying human DNA for historical purposes is reason enough.

So long as the project is conducted with meticulous consideration for the concerns and fears of indigenous populations, it will be.