Where do we really come from? And how did we get to where we live today? These are some of the questions being answered by the genographic project, a project seeking to chart new knowledge about the migratory history of human species by using sophisticated laboratory and computer analysis of DNA contributed by a large population the world over. The project, started in April 2005, is an ongoing multi-year research initiative led by Spencer Wells, explorer-in-residence of National Geographic.

Wells and a team of renowned international scientists and IBM researchers, are using cutting-edge genetic and computational technologies to analyse historical patterns in DNA from participants around the world to understand our human genetic roots better. One of the most striking findings of the project to date is that all present humans descended from a group of African ancestors who, about 60,000 years ago, began a remarkable journey. But there are several other questions that remain to be answered by this project. For example, how did we migrate and populate the world? The genographic project aims to uncover some of these mysteries and discover the details of how we as humans have journeyed around the world.

According to National Geographic, the three components of the project are: To gather field research data in collaboration with indigenous and traditional communities around the world; to invite the public to join the project by purchasing a genographic project public participation kit (GPPPK); and, to use proceeds from GPPPK sales to further field research and the genographic legacy fund (GLF), which in turn supports indigenous conservation and revitalisation projects. There are some differences between the human genome diversity project (HGDP) proposed in the early 1990s and that concluded in 2003, and the genographic project. According to National Geographic, the genographic project has been designed from inception to consider the limitations of HGDP, especially in terms of objectives, approach and methodology. The aims of the project include studying the human journey: How we are all related and how we arrived at where we live today. Thus, unlike HGDP, there is no medical research of any kind in the genographic project. Also, unlike HGDP, no cell lines will be created, and no patents will be created from the project’s genetic data. The information in the project will belong to the global community and will be released into the public domain. In addition to answering questions of scientific interest to the public in general and indigenous and traditional population in particular, the project has established the GLF to provide some ways of giving back something tangible to both participating and non-participating indigenous and traditional communities in support of their aspirations. More specifically, the GLF will be directed primarily toward education initiatives, cultural conservation, and linguistic preservation and revitalisation efforts. Finally, when the HGDP was first discussed over a decade ago, the language of DNA and genetic anthropology was foreign to all but a few scientists. Today it is more familiar to many and most of the ethical and privacy issues are more clearly understood by the global community in the project.

In the project, field researchers at 11 regional centres around the world collect DNA samples from indigenous population. The project also sells the GPPPK: For $100, anyone in the world can order a kit with which a mouth scraping (“buccal swab”) is obtained, analysed and the DNA information placed on an internet accessible database. The genetic markers on mitochondrial DNA (males and females) and Y-chromosomes (males only) are used to trace the participant's distant ancestry, and each customer is provided with their genetic history. Females do not possess the Y-chromosome and, therefore, can only receive the mitochondrial DNA (maternal) test. But if a woman would like to learn about her paternal lineage, then a male relative, such as a father, a brother, or a paternal blood relative of one’s father, such as his brother, can test his Y-chromosome DNA. The results will reveal the female's paternal lineage. As of April 2011, more than 400,000 people had bought a test kit, and the success of the project has spawned a broader interest in direct-to-consumer genetic testing.

As per National Geographic, the main principle in the project relies on the identification of genetic markers. Most human DNA is a shuffled combination of genetic material passed down generations. There are, however, parts of human genome that pass unshuffled from parent to child. These segments of DNA are only changed by occasional mutations, or random spelling mistakes in the genetic code. When these spelling mistakes are passed down to succeeding generations, they become markers of descent. Different populations have different genetic markers, and by following them through the generations scientists are able to identify the different branches of the human tree, all the way back to their common African root. Indigenous populations provide geographical and cultural context to the genetic markers in their DNA. These clues can help recreate past migration patterns.

The important point about this project is that it is not a genealogy study. Thus, people who undergo this test do not stand to learn about their great-grandparents or other recent relatives, and one’s DNA trail will not necessarily lead to one’s present-day location. Rather, the results will reveal the anthropological story of one’s direct maternal or paternal ancestors, where they lived and how they migrated around the world many thousands of years ago.

Another important aspect about this project is its large participant pool. Most of what we know about anthropological genetics today is based on DNA samples donated by approximately 10,000 indigenous and traditional people the world over. While this dataset has given us a broad view of the patterns of human migration, it represents a very small sample of humanity's genetic diversity. In contrast, the genographic project aims to collect and analyse DNA samples from more than 100,000 indigenous and traditional people, making it the world's largest survey of its kind in the field of anthropological genetics, driven by an ethical framework and locally accountable review boards and protocols. The resulting data, is likely to map world migratory patterns dating back some 150,000 years and will fill in the huge gaps in our knowledge of humankind's migratory history.

The genographic project was launched in 2005 to be a five-year project; however, with the success of the project, the research centres are likely to continue their fieldwork and analysis through 2011 into 2012. This project will result in the creation of a global database of human genetic variation and associated anthropological data (language and social customs). As many indigenous and traditional populations around the world are facing strong challenges to their cultural identities, this project will provide a snapshot of human genetic variation before we lose the cultural context necessary to make sense of the genetic data. Ultimately, the findings from the project will underscore how closely related we are to one another as part of the extended human family.

(The writer is a faculty member of Carnegie Mellon University, US, & knowledge editor, Financial Chronicle)