Human Population Genetics and Genomics ISSN 2770-5005

Human Population Genetics and Genomics 2022;2(4):0005 |

Commentary Open Access

Twenty years of the Human Genome Diversity Project

Serena Aneli 1 , Giovanni Birolo 2 , Giuseppe Matullo 2

  • Department of Public Health Sciences and Pediatrics, University of Turin, 10126 Turin, Italy
  • Department of Medical Sciences, University of Torino, 10126 Turin, Italy

Correspondence: Giuseppe Matullo

Academic Editor(s): Guido Barbujani

Received: Jul 25, 2022 | Accepted: Oct 17, 2022 | Published: Oct 24, 2022

This article belongs to the Special Issue

Cite this article: Aneli S, Birolo G, Matullo G. Twenty years of the Human Genome Diversity Project. Hum Popul Genet Genom 2022; 2(4):0005.


In a seminal paper from 2005, Cavalli-Sforza describes the Human Genome Diversity Project (HGDP), an endeavour to collect the worldwide genetic diversity originating before the big diasporas and colonization following the fifteenth century. He recounts the project’s conception, its completion and first scientific impacts in 2002, the issues and criticism it faced and its possible role in the future of human genetics. Now, twenty years after its birth, we can take a look at that future and the long-term impact that the HGDP had on population and medical genetics, finding it still alive and kicking. We also show the role it played and its relationships with many other large initiatives that took place during these years. Finally, we examined the changed sensibilities on the ethical usage of genetic data for scientific research and how this affects the HGDP and other genetic efforts, both in population and medical genetics.


Human Genome Diversity Project, human population diversity

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