ESHS/HSS Annual Meeting

The International HapMap Project and the Birth of the Genome-Wide Association Era

• In Event: Biology's 20th Century Evolution: From Genetics to AI

English Abstract

In 1998, Francis Collins announced a new goal for the Human Genome Project: to identify genome sequence variation among individuals, specifically single nucleotide polymorphisms, or SNPs. In principle, having a dense map of SNPs would enable researchers to extend the reach of Mendelian genetics beyond the realm of rare, monogenic disorders (where it had been undeniably successful) to complex, common diseases (where it had not). The main variation-mapping effort that grew out of this plan was the International HapMap Project (2002-2005), whose aim was to identify blocks of SNPs, called haplotypes, in four groups of individuals meant to represent different genetic ancestries. When completed, the HapMap made possible the first genome-wide association studies, or GWAS, of complex diseases, ushering in a new perspective in medicine. This talk will discuss the origins, execution, and outcomes of the HapMap, focusing on key players and debates. It will also situate the HapMap within the larger history of methods that geneticists have used to link specific phenotypes to specific chromosomal regions, highlighting both the continuities and discontinuities in the approaches as well as the assumptions that are built into those methods. This history takes on renewed relevance in the present context of the so-called missing heritability problem, the contested science of polygenic risk score screening, and discussions about the proper use of population descriptors such as ancestry and race in genomics research (NASEM, 2023).

Author

• Matthew Tontonoz, Arizona State University