Newly Published Volume Contextualizes the Human Genome Project to Advance Precision Medicine

More than 20 years after the completion of the Human Genome Project — one of the greatest scientific feats in history — what have we learned from this massive undertaking, and where does the field of genomics stand today?

These questions are tackled in Perspectives on the Human Genome Project and Genomics (July 2026), edited by Christopher R. Donohue, PhD, of UC Irvine and Alan C. Love, PhD, of the University of Minnesota.

“The volume underscores how far we have traveled and how much work needs to be done in order for all to benefit from precision medicine and genomics research,” says Donohue, who was the historian of the National Human Genome Research Institute (NHGRI) at the National Institutes of Health (NIH).

Now a researcher at UC Irvine’s Institute for Clinical and Translational Science (ICTS), Donohue explains the significance of placing the HGP in historical context.

“By better understanding the complex history of the HGP, we gain a more mature scientific perspective that productively informs our realization of precision medicine,” says Donohue. “The collection underscores that with every scientific advance, there may be significant social and ethical complexities that need careful consideration.”

Capturing Interdisciplinary Perspectives

Perspectives on the Human Genome Project and Genomics grew out of the NHGRI’s History of Genomics Program, which Donohue initiated in 2012 with his NIH colleagues Eric Green, MD, PhD, and Kris Wetterstrand.

“The History of Genomics Program was intentionally established to capture and promote the historical, philosophical, sociological and ethical implications of the HGP and subsequent genomics programs, especially after the ‘completion’ of the Human Genome Project in 2003,” says Donohue.

In the summer of 2017, after a meeting at the NHGRI focused on the growth and use of the History of Genomics Program archive database resource, Donohue and Love saw an opportunity to fill in gaps in existing literature and support future genomics research.

“We saw the potential for a novel and significant intervention into the scholarship on genomics that might both upset some comfortable narratives and set an agenda for future investigations by science scholars interested in the sprawling space of genomic science,” says Donohue.

With these factors in mind, the History of Genomics Program convened a conference in November 2018. “The goal was to address the HGP and genomics from a variety of perspectives,” says Donohue, “covering the full range of topics in genome biology and genomic medicine and with social and ethical implications strongly in view.”

Topics included the Genome Sequencing Program; human genetic variation programs, such as the International HapMap Project and the 1000 Genomes Project; and the development of genome sequencing technology, including the $1,000 Genome, the Encyclopedia of DNA Elements (ENCODE), and the Ethical, Legal and Social Implications of Genomics (ELSI) research program.

“This fusion of both ‘outsider’ scholarly perspectives and ‘insider’ scientific program perspectives made for a unique workshop,” says Donohue.

Subsequently, the new volume of work augments and enhances those perspectives with more refined and developed contributions.

Highlighting the scope of the work, Donohue stresses that “while this volume provides unique insights into the development of the HGP and genomics from the late 1980s to the present, it does so primarily — but not exclusively — from a United States, NIH-centric perspective.”

UC Irvine Contributions

The volume is split into three sections, focused on producing (Part I), contextualizing (Part II) and interpreting (Part III) the genome. Notably, each section contains a chapter co-authored by a UC Irvine faculty member.

Chapter 3, “The NHGRI Genome Sequencing Cost Curve: An Indicator of Scientific Progress,” is written by Donohue’s previous NHGRI colleague, Wetterstrand, and his current UC Irvine colleague, Jonathan E. LoTempio Jr., PhD, an assistant professor of pediatrics and biological chemistry and an associate director of translational bioethics.

“Wetterstrand and LoTempio give a detailed account of the HGP’s most celebrated, public and commented-on graphic: the sequencing cost graph,” says Donohue, also a member of the LoTempio Lab.

Donohue’s own chapter appears in Part II. In Chapter 11, “Variations on a Theme: A History of Errors and Polymorphisms in the Human Genome Project and Beyond,” he narrates some of the early challenges of ascertaining polymorphisms and distinguishing errors in sequence data.

“The HGP was oftentimes portrayed as a linear march towards certain success, but the reality was rather more complicated,” says Donohue. “My chapter underscores that even important standards were put together as needed … and there was consistent, respectful dialogue and disagreement throughout the HGP concerning all sorts of day-to-day issues.”

Chapter 14, “The Trouble with Being ‘Socially Responsible’: Science, GWAS, and Sexual Orientation,” is written by Michel Dubois, PhD, and Catherine Guaspare, PhD, of Sorbonne University, and Eric Vilain, MD, PhD, vice dean of clinical research in the UC Irvine School of Medicine and director of the ICTS.

“They emphasize that genetic discussions of behavior and sexual orientation have always been subject to misinterpretation,” says Donohue, “perhaps even more so in the era of Genome-Wide Association Studies.”

Realizing Precision Medicine

Publication of this work comes on the heels of the NIH announcement that its All of Us Research Program is now the world’s largest integrated genomics and health database.

“What the All of Us Program is beginning to return to participants is what the HGP promised to the research and clinical community,” says Donohue. “All of Us represents a significant step to delivering some decades-old promises.” Donohue looks forward to helping to deliver on those promises, in collaboration with colleagues at UC Irvine.

“Producing cutting-edge science, guided by deeply informed ethics and meaningful conversations between researchers, clinicians and patient communities, is the core of ICTS and our work in the LoTempio Lab,” he says. “Placing challenges and opportunities in historical perspective, and reframing the HGP and past genomics as a series of provisionally answered questions with available data and occasional missed opportunities, ensures that our work at UC Irvine benefits everyone and continues to move forward.”

— Shani Murray