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Annotated Scholarly Guide to the HGP The Human Genome Project: An Annotated & Interactive Scholarly Guide to the Project in the United States Editor: Kevin Davies Cold Spring Harbor Laboratory Library & Archives The Human Genome Project: An Annotated & Interactive Scholarly Guide to the Project in the United States Editor Kevin Davies Project Leaders Ludmila Pollock Judy Wieber Production Manager Thomas Adams Contributors Brian Dick Robert Wargas Michael Eisenstein Victor McElheny Stephanie Satalino Reviewers Jan Witkowski Rick Myers Robert Cook-Deegan Acknowledgment This project was supported by the National Library of Medicine (NLM) Grants for Scholarly Works in Biomedicine and Health (G13). Project Title: Human Genome Project Documentary History: An Annotated Scholarly Guide to the HGP. PI: Ludmila Pollock Research reported in this publication was supported by the National Library of Medicine of the National Institutes of Health under Award Number G13LM011890-01. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. Copyright © 2016 Cold Spring Harbor Laboratory. All rights reserved. Researched, compiled and published by Cold Spring Harbor Laboratory Library & Archives. All World Wide Web addresses are accurate to the best of our knowledge at the time of the printing. ISBN 978-0-9978662-0-9 Extracted: 2016-11-22 INTRODUCTION - 2 The Human Genome Project: An Annotated & Interactive Scholarly Guide to the Project in the United States 1 INTRODUCTION It is my great pleasure to introduce The Human Genome Project: An Annotated & Scholarly Guide to the Project in the United States. The idea for this annotated scholarly guide to the Human Genome Project (HGP) originated at an international meeting on the history of the HGP that was held in May of 2012 at the Cold Spring Harbor Laboratory’s Banbury Center. This meeting gathered a wide range of participants, including scientists, administrators, authors, publishers, filmmakers, historians, and funders, to consider how best to present the history of the HGP to different audiences. The HGP was the first “big science” project for biological research, and while previous big science projects, such as the Manhattan Project, were documented extensively, we recognized that formal plans to document the HGP had not made at its inception. Thus, this annotated guide is the first step in this direction. The Human Genome Project: An Annotated & Scholarly Guide to the Project in the United States was a natural project for us to take on because of the establishment in 2005 of the Genentech Center for the History of Molecular Biology and Biotechnology at the CSHL Library and Archives and my belief that it is critically important to document the history of these relatively new scientific areas while primary sources and people remain available. We intend this guide as a research tool that historians of medicine and the life sciences, as well as bioethicists and public health officials, can use to locate materials for their research. Represented here is a compendium of a wide range of materials from the HGP covering the years 1977 to 2003, including: a brief history of the HGP; research methods used; ethical, legal, and social implications; grant applications; news items; scientific records, data, and notebooks; relevant meetings and publications; government documents; brief biographies of those involved in the HGP; participating academic, commercial, and governmental organizations; genome maps and sequences; as well as links to other repositories. We are presenting the guide as an e-book/pdf for ease of navigation. And while the current version covers just the United States HGP collections, a future version will be expanded to cover international resources. We are grateful for the grant support of the National Library of Medicine Grants for Scholarly Works in Biomedicine and Health program. Such a large and complex project would not have been possible without the the significant contributions of the Cold Spring Harbor Laboratory Library and Archivies staff—Michael Eisenstein, Brian Dick, Robert Wargas, Clare Clark, and Stephanie Satalino. Co-leaders on this project were Judy Wieber, who collected much of the guide’s content, and Thomas Adams, who oversaw the database and technological aspects. This immense editorial task was undertaken by Kevin Davies, founding editor of Nature Genetics and author of articles and books about the HGP. I hope that scholars and historians will find this initial guide to be a useful resource in planning and completing their own HGP projects, and I look forward to hearing their comments and suggestions for future development of this extensive resource. Ludmila Pollock, Executive Director Genentech Center for the History of Molecular Biology and Biotechnology CSHL Library & Archives INTRODUCTION - 3 The Human Genome Project: An Annotated & Interactive Scholarly Guide to the Project in the United States 2 NOTE FROM EDITOR When the Human Genome Project was officially launched back in 1990, it was envisioned as an international effort that would span 15 years with a price tag of $3 billion -- $1 for each base of the genetic code. After a journal with many twists, turns and tribulations, this extraordinary quest was marked by a White House celebration in June 2000, and the publication of the first drafts of the human genome in February 2001. The Nobel laureate David Baltimore wrote in Nature that he got “chills” reading the manuscript detailing the reference genome for humankind. It is 15 years since those first drafts of the human genome were published. From a solitary reference genome, there are now hundreds of thousands of decoded genomes, thanks to astonishing advances in next- generation sequencing. Our understanding of the biology of the human genome has grown, bolstered by projects that have built upon the foundation of the Human Genome Project, including the International HapMap project, The Cancer Genome Atlas, the ENCODE Project, and many more. There is no shortage of books, review articles, documentaries, and conferences addressing the Human genome Project and its legacy. Is there room for another scholarly effort to add to this abundance of information? We think so. The Annotated Scholarly Guide to the Human Genome Project is a vast, online window into the Human Genome Project. It features a rich, meticulous gathering of resources, information and links to original research, articles, videos and many other materials. The scope spans not only the years bracketing the Project itself, but also the period leading to the launch and events following the Project’s completion. The Annotated Scholarly Guide is the brainchild of Mila Pollock, librarian at the Cold Spring Harbor Laboratory. I am proud to have worked alongside Mila and her team, including contributor Michael Eisenstein, and hope this resource helps scholars and researchers learn more about the conception, history and legacy of the Human Genome Project. Kevin Davies, PhD NOTE FROM EDITOR - 4 The Human Genome Project: An Annotated & Interactive Scholarly Guide to the Project in the United States 3 PREFACE In February of 1953, Francis Crick and I proclaimed to the patrons of the Eagle pub in Cambridge that we had discovered “the secret of life”—how the structure of DNA carries genetic information. But I don’t think that Francis and I could realize then that just 50 years on, the complete sequence of the three billion base pairs of the human genome would be deciphered and the molecular basis of what it is to be human would be revealed. Certainly, Fred Sanger’s development of the dideoxy chain-termination method of sequencing in 1977 was a critical step in moving us closer to this goal, and so his important achievement marks the starting point for the resources concerning the complex history, science, economics, and politics of the Human Genome Project contained in this extensive guide. Ending with the announcement of the completed human genome sequence in 2003, The Human Genome Project: An Annotated & Scholarly Guide to the Project in the United States constitutes an indispensable research tool for scientific investigators, historians of medicine and the life sciences, as well as bioethicists and public health officials worldwide. My directorship of the National Center for Human Genome Research from 1989 through 1992 was a period in which technologies and bioinformatics approaches were being developed, the U.S. Congress was brought on board with funding, and attention was paid to the social, economic, and moral implications of knowing the sequence of the human genome. Thus, I am very pleased to see documented here the wealth of progress and information, as well as the large number of researchers and organizations involved in this enormous effort, from that nascent period for the Human Genome Project through the completion of the project. Implicit in the information presented here are the future benefits of knowing the structural and functional details of the human genome. Already there are companies that offer consumer genome analysis, and new technologies have made the $1000 genome a reality, with personalized medicine on the near horizon. The journey of research developments and the resources compiled in this guide will most certainly spur further progress and so fulfill the Human Genome Project’s promise to provide the understanding and effective treatment of the diseases that plague the human condition. Dr. James D. Watson PREFACE - 5 The Human Genome
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