Francis Sellers Collins helped lead the International Human Genome Sequencing Consortium, which helped describe the DNA sequence of the human genome by 2001, and he helped develop technologies used in molecular genetics while working in the US in the twentieth and twenty-first centuries. He directed the US National Center for Human Genome Research (NCHGR), which became the National Human Genome Research Institute (NHGRI), of the US National Institutes of Health (NIH), located in Bethesda, Maryland, from 1993 to 2008. Collins led teams of researchers to use data on human genomes to investigate the genetic aspects of diseases and treatments, the variations among people in terms of their DNA sequences, and the evolution of humans. Collins became director of the NIH in 2009. Some criticized him for his Christian faith and its possible impacts on science funding through the NIH, such as for stem cell research, cloning, and embryonic genetic testing. As a director of the NHGRI and the NIH, Collins helped shape the structures and aims of projects in biology that pursue what he called big science, and he helped relate those projects to federal governments and to private companies.

Portrayed as the Manhattan Project of the late 20th century, the Human Genome Project, or HGP, not only undertook the science of sequencing the human genome but also the ethics of it. For this thesis I ask how the HGP did this; what was the range of possibilities of goods and evils imagined by the HGP; and what, if anything, was left out. I show that the Ethical, Legal, and Social Implications, or ELSI, research program of the HGP was inscribed with the competencies of the professional field of bioethics, which had lent itself useful for governing biomedical science and technology earlier in the 20th century. Drawing on a sociological framework for understanding the development of professional bioethics, I describe the development of ELSI, and I note how the given-in-advance boundaries between authorized and unauthorized questions shaped not only its formation but also biased technologically based conceptualizations of social problems and potential solutions.

The Human Genome Project (HGP) was an international scientific effort to sequence the entire human genome, that is, to produce a map of the base pairs of DNA in the human chromosomes, most of which do not vary among individuals. The HGP started in the US in 1990 as a public effort and included scientists and laboratories located in France, Germany, Japan, China, and the United Kingdom. Scientists hypothesized that mapping and sequencing the human genome would facilitate better theories of human development, the genetic causes and predispositions for a number of diseases, and individualized medicine. The HGP, alongside the private effort taken up by the company Celera Genomics, released a working draft of the human genome in 2001 and a complete sequence in 2003. The history of the HGP ripples beyond biomedical science and technology into the social, economic, and political.

Charles Robert Cantor helped sequence the human genome, and he developed methods to non-invasively determine the genes in human fetuses. Cantor worked in the US during the twentieth and twenty-first centuries. His early research focused on oligonucleotides, small molecules of DNA or RNA. That research enabled the development of a technique that Cantor subsequently used to describe nucleotide sequences of DNA, a process called sequencing, in humans. Cantor was the principal scientist for the Human Genome Project, for which scientists sequenced the entirety of the human genome in 2003. Afterwards, Cantor became the chief scientific officer for Sequenom Inc., a company that provided non-invasive prenatal genetic testing. Such tests use a pregnant woman's blood to identify genetic mutations in a fetus during the first trimester of pregnancy.

George McDonald Church studied DNA from living and from extinct species in the US during the twentieth and twenty-first centuries. Church helped to develop and refine techniques with which to describe the complete sequence of all the DNA nucleotides in an organism's genome, techniques such as multiplex sequencing, polony sequencing, and nanopore sequencing. Church also contributed to the Human Genome Project, and in 2005 he helped start a company, the Personal Genome Project. Church proposed to use DNA from extinct species to clone and breed new organisms from those species.

The Human Genome Diversity Project, or HGDP, was an effort led by US-based scientists to collect DNA from members of Indigenous communities living around the world for the purpose of understanding human history, migration, and evolution. Launched in 1991, and led by Luca Cavalli-Sforza, a scientist at Stanford University in Stanford, California, the HGDP initially had the support of US funding agencies. However, the project eventually lost that support when representatives of Indigenous groups protested the project as being exploitative and fellow scientists accused it of racism. Though the project ultimately failed to collect most of the samples it had originally planned, the HGDP was one of the first attempts by scientists to catalogue worldwide human genetic variation, and the DNA samples it did collect formed the basis of many subsequent research studies concerned with understanding human genetic variation and migration patterns.

Launched in 2002, the International HapMap Project was a collaborative effort among scientists from around the world to create a map of common patterns of genetic variation in the human genome. HapMap stands for haplotype map. A haplotype is a stretch of DNA nucleotides, or letters, that individuals inherit as a block because they lie relatively close together along a chromosome. For any particular region of a chromosome, there may be multiple different haplotypes present among humans, each characterized by a slightly different DNA sequence. By collecting and sequencing the DNA of initially 270 individuals from several different geographic regions, HapMap scientists were able to identify common haplotypes that exist among those individuals, as well as reliable markers to distinguish them. That collection of haplotypes and identifying markers—the HapMap—provided a shortcut for researchers who wanted to identify associations between those inherited DNA variants and particular human traits, especially common, complex diseases like heart disease and cancer.

The 1,000 Genomes Project, which began in 2008, was an international effort to create a detailed and publicly accessible catalog of human genetic variation to support medical studies aimed at exploring genetic contributions to disease. Project scientists sequenced the entire genomes of 2,504 individuals from around the world—more than the 1,000 originally planned. The Project extended the results of the International HapMap Project, a prior effort at cataloging human genetic variation that ran from 2002 through 2010. Whereas the HapMap identified common genetic variants, meaning specific DNA sequences present in five percent or more of individuals in a population, the 1,000 Genomes Project identified genetic variants present in as few as one percent of individuals in a population. By assembling a larger catalog of DNA sequence variation than had previously existed, the 1,000 Genomes Project paved the way for researchers to more precisely locate disease-related genetic variation passed from parent to child.

A genome-wide association study, or GWAS, is a method for identifying variations in DNA that may contribute to the development of a particular trait, such as a disease. A GWAS relies on identifying statistical correlations between many, often thousands of, DNA markers and a particular trait. Scientists employ GWASs to try to identify the genetic contributions to complex traits, such as common human diseases. Complex traits are ones that scientists suspect are the result of multiple genes and environmental inputs acting together, in contrast to simple, Mendelian disorders that result primarily from the disturbance of a single gene. The genetic variants identified through a GWAS typically account for only a small proportion of the expected genetic contribution to a complex trait, which scientists refer to as the missing heritability problem. Since 2006, scientists have conducted thousands of GWASs aimed at identifying the genetic contributions to complex traits and have identified many thousands of genetic variations that correlate with those traits, although as of 2025, because of the missing heritability problem and other limitations, the concrete contributions of GWASs to medicine have so far been modest.