Ethics choices during the Human Genome Project reflected their policy world, not ours

Jonathan E LoTempio Jr; Christopher R Donohue; Jonathan D Moreno; Robert Cook-Deegan

doi:10.1016/j.xgen.2025.100841

Ethics choices during the Human Genome Project reflected their policy world, not ours

Cell Genom. 2025 May 14;5(5):100841. doi: 10.1016/j.xgen.2025.100841.

Authors

Jonathan E LoTempio Jr¹, Christopher R Donohue², Jonathan D Moreno³, Robert Cook-Deegan⁴

Affiliations

¹ University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA. Electronic address: lotempio@upenn.edu.
² National Human Genome Research Institute, Bethesda, MD, USA.
³ University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
⁴ Arizona State University School for the Future of Innovation in Society, Tempe, AZ, USA.

Abstract

Since human genomic data produced in the 1990s are still a significant part of the reference genome, decades-old decisions pertinent to the creation of these data persist. Here, we discuss how historical documents illustrate the 1990s policy and legal environment and how they affected ethical choices in the Human Genome Project (HGP). These documents inform current controversies about informed consent and how IRBs review similar protocols today. Finally, we discuss how this informs active work in large reference pangenome efforts.

Publication types

Historical Article

MeSH terms

Confidentiality
Consent Forms* / history
Consent Forms* / legislation & jurisprudence
Ethics Committees, Research
Genetic Privacy* / legislation & jurisprudence
History, 20th Century
Human Genome Project* / history
Human Genome Project* / legislation & jurisprudence
Humans