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DNA Technology in Forensic Science Committee on DNA Technology in Forensic Science Board on Biology Commission on Life Sciences National Research Council NATIONAL ACADEMY PRESS Washington, D.C. 1992
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National Academy Press 2101 Constitution Avenue., N.W. Washington, DC 20418 NOTICE: The project that is the subject of this report was approved by the Governing Board of the National Research Council, whose members are drawn from the councils of the National Academy of Sciences, the National Academy of Engineering, and the Institute of Medicine. The members of the committee responsible for the report were chosen for their special competences and with regard for appropriate balance. This report has been reviewed by a group other than the authors according to procedures approved by a Report Review Committee consisting of members of the National Academy of Sciences, the National Academy of Engineering, and the Institute of Medicine. This Board on Biology study was supported by the Federal Bureau of Investigation, the National Institutes of Health National Center for Human Genome Research, the National Institute of Justice, the National Science Foundation, the Alfred P. Sloan Foundation, and the State Justice Institute. Library of Congress Cataloging-in-Publication Data National Research Council (U.S.). Committee on DNA Technology in Forensic Science. DNA technology in forensic science / Committee on DNA Technology in Forensic Science, Board on Biology, Commission on Life Sciences, National Research Council. p. cm. Includes bibliographical references and index. ISBN 0-309-04587-8 1. Forensic genetics—Congresses. 2. DNA fingerprinting— Congresses. I. Title. [DNLM: 1. DNA—analysis. 2. Forensic Medicine—methods. W 786 N277d] RA1057.5N37 1992 614'.1—dc20 DNLM/DLC for Library of Congress 92-16341 CIP This book is printed with soy ink on acid-free recycled stock. Copyright 1992 by the National Academy of Sciences. Printed in the United States of America First Printing, July 1992 Second Printing, January 1993 Third Printing, May 1997
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COMMITTEE ON DNA TECHNOLOGY IN FORENSIC SCIENCE VICTOR A. McKUSICK, Chairman, The Johns Hopkins Hospital, Baltimore, Maryland PAUL B. FERRARA, Division of Forensic Sciences, Department of General Services, Richmond, Virginia HAIG H. KAZAZIAN, The Johns Hopkins Hospital, Baltimore, Maryland MARY-CLAIRE KING, University of California, Berkeley, California ERIC S. LANDER, Whitehead Institute for Biomedical Research, Cambridge, Massachusetts HENRY C. LEE, Connecticut State Police, Meriden, Connecticut RICHARD O. LEMPERT, University of Michigan Law School, Ann Arbor, Michigan RUTH MACKLIN, Albert Einstein College of Medicine, Bronx, New York THOMAS G. MARR, Cold Spring Harbor Laboratory, Cold Spring Harbor, New York PHILIP R. REILLY, Shriver Center for Mental Retardation, Waltham, Massachusetts GEORGE F. SENSABAUGH, Jr., University of California, Berkeley, California JACK B. WEINSTEIN, U.S. District Court, New York, Brooklyn, New York Former Members C. THOMAS CASKEY (Resigned December 21, 1991), Baylor College of Medicine, Houston, Texas MICHAEL W. HUNKAPILLER (Resigned August 17, 1990), Applied Biosystems Inc., Foster City, California National Research Council Staff OSKAR R. ZABORSKY, Study Director; Director, Board on Biology NORMAN GROSSBLATT, Editor MARIETTA E. TOAL, Administrative Secretary MARY KAY PORTER, Senior Secretary
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BOARD ON BIOLOGY HAROLD E. VARMUS, Chairman, University of California, San Francisco, California ANANDA M. CHAKRABARTY, University of Illinois Medical Center, Chicago, Illinois MICHAEL T. CLEGG, University of California, Riverside, California RICHARD E. DICKERSON, University of California, Los Angeles, California RICHARD E. LENSKI, University of Michigan, East Lansing, Michigan BARBARA J. MAZUR, E. I. du Pont de Nemours & Company, Wilmington, Delaware HAROLD J. MOROWITZ, George Mason University, Fairfax, Virginia DANIEL E. MORSE, University of California, Santa Barbara, California PHILIP NEEDLEMAN, Monsanto Company, St. Louis, Missouri MARY LOU PARDUE, Massachusetts Institute of Technology, Cambridge,Massachusetts DAVID D. SABATINI, New York University, New York, New York MICHAEL E. SOULÉ, University of California, Santa Cruz, California MALCOLM S. STEINBERG, Princeton University, Princeton, New Jersey DAVID B. WAKE, University of California, Berkeley, California DANIEL I. C. WANG, Massachusetts Institute of Technology, Cambridge,Massachusetts BRUCE M. ALBERTS, ex officio, University of California, San Francisco,California
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COMMISSION ON LIFE SCIENCES BRUCE M. ALBERTS, Chairman, University of California, San Francisco, California BRUCE N. AMES, University of California, Berkeley, California J. MICHAEL BISHOP, University of California Medical Center, San Francisco, California MICHAEL T. CLEGG, University of California, Riverside, California GLENN A. CROSBY, Washington State University, Pullman, Washington LEROY E. HOOD, California Institute of Technology, Pasadena, California DONALD F. HORNIG, Harvard School of Public Health, Boston, Massachusetts MARIAN E. KOSHLAND, University of California, Berkeley, California RICHARD E. LENSKI, University of Michigan, East Lansing, Michigan STEVEN P. PAKES, University of Texas, Dallas, Texas EMIL A. PFITZER, Hoffmann-La Roche, Inc., Nutley, New Jersey THOMAS D. POLLARD, The Johns Hopkins Medical School, Baltimore, Maryland JOSEPH E. RALL, National Institutes of Health, Bethesda, Maryland RICHARD D. REMINGTON, University of Iowa, Iowa City, Iowa PAUL G. RISSER, University of New Mexico, Albuquerque, New Mexico HAROLD M. SCHMECK, JR., Armonk, New York RICHARD B. SETLOW, Brookhaven National Laboratory, Upton, New York CARLA J. SHATZ, University of California, Berkeley, California TORSTEN N. WIESEL, Rockefeller University, New York, New York National Research Council Staff JOHN E. BURRIS, Executive Director
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The National Academy of Sciences is a private, nonprofit, self-perpetuating society of distinguished scholars engaged in scientific and engineering research, dedicated to the furtherance of science and technology and to their use for the general welfare. Upon the authority of the charter granted to it by the Congress in 1863, the Academy has a mandate that requires it to advise the federal government on scientific and technical matters. Dr. Frank Press is president of the National Academy of Sciences. The National Academy of Engineering was established in 1964, under the charter of the National Academy of Sciences, as a parallel organization of outstanding engineers. It is autonomous in its administration and in the selection of its members, sharing with the National Academy of Sciences the responsibility for advising the federal government. The National Academy of Engineering also sponsors engineering programs aimed at meeting national needs, encourages education and research, and recognizes the superior achievements of engineers. Dr. Robert M. White is president of the National Academy of Engineering. The Institute of Medicine was established in 1970 by the National Academy of Sciences to secure the services of eminent members of appropriate professions in the examination of policy matters pertaining to the health of the public. The Institute acts under the responsibility given to the National Academy of Sciences by its congressional charter to be an advisor to the federal government and, upon its own initiative, to identify issues of medical care, research, and education. Dr. Kenneth I. Shine is president of the Institute of Medicine. The National Research Council was organized by the National Academy of Sciences in 1916 to associate the broad community of science and technology with the Academy's purposes of furthering knowledge and of advising the federal government. Functioning in accordance with general policies determined by the Academy, the Council has become the principal operating agency of both the National Academy of Sciences and the National Academy of Engineering in providing services to the government, the public, and the scientific and engineering communities. The Council is administered jointly by both Academies and the Institute of Medicine. Dr. Frank Press and Dr. Robert M. White are chairman and vice chairman, respectively, of the National Research Council. Acknowledgment and Disclaimer: This report was supported with joint funding from the National Institute of Justice, the Federal Bureau of Investigation, and the State Justice Institute, under award #89-IJ-CX-0055 from the National Institute of Justice, Office of Justice Programs, U.S. Department of Justice. Points of view in this document are those of the authors and do not necessarily represent the official position of the U.S. Department of Justice.
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Preface In recent years, advances in the techniques for mapping and sequencing the human genome have contributed to progress in both basic biology and medicine. The applications of these techniques have not been restricted to biology and medicine, however, but have also entered forensic science. Today, methods developed in basic molecular biology laboratories can potentially be used in forensic science laboratories in a matter of months. On the basis of its study of the mapping and sequencing of the human genome (reported in 1988), the Board on Biology and several federal agencies recognized the potential of DNA typing technology for forensic science. In particular, the Federal Bureau of Investigation, the preeminent organization in the United States for the development and application of forensic techniques, initiated an effort to develop and evaluate DNA typing in forensic applications in the mid-1980s. The first case work was performed in December 1988. Several private-sector laboratories entered the field early, and state government crime laboratories also began to offer services in DNA typing. However, as DNA typing entered the courtrooms of this country, questions appeared about its reliability and methodological standards and about the interpretation of population statistics. By the summer of 1989, a crescendo of questions concerning DNA typing had been raised in connection with some well-publicized criminal cases, and calls for an examination of the issues by the National Research Council of the National Academy of Sciences came from the scientific and legal communities. As a response, this study was initiated in January 1990. Because of the broad ramifications of forensic DNA typing, a number
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of federal agencies and one private foundation provided financial support for this study: the Federal Bureau of Investigation, the National Institutes of Health National Center for Human Genome Research, the National Institute of Justice, the National Science Foundation, the State Justice Institute, and the Alfred P. Sloan Foundation. Many persons offered assistance to the committee and staff during this complex study. In particular, the following deserve recognition and praise for their efforts: John Hicks, Federal Bureau of Investigation; Elke Jordan and Eric Juengst, National Institutes of Health National Center for Human Genome Research; James K. Stewart, Charles B. DeWitt, Bernard V. Auchter, and Richard Laymon, National Institute of Justice; John C. Wooley, National Science Foundation; David I. Tevelin, State Justice Institute; and Michael S. Teitelbaum, Alfred P. Sloan Foundation. I also thank the many experts who offered their advice to the committee during its briefings and open meetings. The names of those who offered testimony are given in the appendix. Additionally, I want to thank the many who wrote to me or to the National Research Council and provided valuable data and suggestions to the committee; much was gained from their input. We also acknowledge the efforts of Robert Kushen, Columbia Law School, in assisting Judge Weinstein. I also thank Della Malone, my secretary, for her help throughout. The committee thanks the reviewers of our report for many valuable comments and suggestions. Although the reviewers are anonymous to us, I personally want to thank them for their constructive comments and suggestions. The staff of the Board on Biology deserve special praise for their efforts during the many months of intense activity. Oskar R. Zaborsky, Study Director and Director of the Board on Biology, deserves recognition for his administrative and technical contributions and for handling many complex matters. Marietta Toal, Administrative Secretary, served the committee well in logistics and the preparation of the report. The committee also thanks Mary Kay Porter for her assistance. Norman Grossblatt edited the report. Last but not least, I thank my colleagues on the committee who served so well and unselfishly to address key issues from the perspective of their special expertise and to prepare this report in a timely fashion. DNA typing for personal identification is a powerful tool for criminal investigation and justice. At the same time, the technical aspects of DNA typing are vulnerable to error, and the interpretation of results requires appreciation of the principles of population genetics. These considerations and concerns arising out of the felon DNA databanks and the privacy of DNA information made it imperative to develop guidelines and safeguards for the most effective and socially beneficial use of this powerful tool. We hope that our efforts will enhance understanding of the issues and serve to
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bring together people of good will from science, technology, law, and ethics. We hope that our report will serve well the sponsors and the general public. Victor A. McKusick Chairman Committee on DNA Technology in Forensic Science
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A Statement by the Committee on DNA Technology in Forensic Science On April 14, 1992, The New York Times printed an article on this report. That article seriously misrepresented the findings of the committee; in an article on April 15, the Times corrected the misrepresentation. To avoid any potential confusion engendered by the April 14 article, the committee provides the following clarifying statement: We recommend that the use of DNA analysis for forensic purposes, including the resolution of both criminal and civil cases, be continued while improvements and changes suggested in this report are being made. There is no need for a general moratorium on the use of the results of DNA typing either in investigation or in the courts. We regard the accreditation and proficiency testing of DNA typing laboratories as essential to the scientific accuracy, reliability, and acceptability of DNA typing evidence in the future. Laboratories involved in forensic DNA typing should move quickly to establish quality-assurance programs. After a sufficient time for implementation of quality-assurance programs has passed, courts should view quality control as necessary for general acceptance. The Committee
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Contents SUMMARY 1 1 INTRODUCTION 27 Background 27 Genetic Basis of DNA Typing 32 Technological Basis of DNA Typing 36 Population Genetics Relevant to the Interpretation of DNA Typing 44 Characteristics of an Optimal Forensic DNA Typing System 48 References 49 2 DNA TYPING: TECHNICAL CONSIDERATIONS 51 Essentials of a Forensic DNA Typing Procedure 52 Technical Issues in RFLP Analysis 56 Technical Issues in PCR-Based Methods 63 National Committee on Forensic DNA Typing 70 Summary of Recommendations 72 References 73 3 DNA TYPING: STATISTICAL BASIS FOR INTERPRETATION 74 Estimating the Population Frequency of a DNA Pattern 75 Determining Allele Frequencies in a Population Databank 85 Implications of Genetic Correlations among Relatives 86 Implications of Increased Power of DNA Typing Compared with Conventional Serology 88
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Laboratory Error Rates 88 Toward a Firm Foundation for Statistical Interpretation 89 Summary of Recommendations 94 References 95 4 ENSURING HIGH STANDARDS 97 Defining the Principles of Quality Assurance 98 Potential Methods for Ensuring Quality 99 Quality Assurance in Related Fields 101 Initial Efforts Toward Establishing Standards in Forensic DNA Typing 102 A Regulatory Program for DNA Typing 104 Summary of Recommendations 108 References 109 5 FORENSIC DNA DATABANKS AND PRIVACY OF INFORMATION 111 Comparison of DNA Profiles and Latent Fingerprints 111 Confidentiality and Security 113 Methodological Standardization 116 Cost Versus Benefit 117 Whose Samples Should Be Included? 118 Sample Storage 122 Information To Be Included and Maintained in a Databank 122 Rules on Accessibility 123 Statistical Interpretation of Databank Matches 124 Status of Databank Development 124 Model Cooperative Information Resource 126 Summary of Recommendations 128 References 129 6 USE OF DNA INFORMATION IN THE LEGAL SYSTEM 131 Admissibility 132 DNA Databanks on Convicted Felons: Legal Aspects 142 Assessing the Admissibility of Evidence Based on Results of Further Advances in DNA Technology 143 Suggestions For Use of DNA Evidence 145 DNA Evidence and the Various Parties in the Legal System 146 Testing Laboratories 148 Protective Orders 148 Availability and Cost of Experts 148 Summary of Recommendations 149 References 150
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7 DNA TYPING AND SOCIETY 152 Economic Aspects 153 Ethical Aspects 154 Abuse and Misuse of DNA Information 158 Expectations 160 Accountability and Public Scrutiny 162 International Exchange 162 Summary of Recommendations 163 References 163 ORGANIZATIONAL ABBREVIATIONS 165 GLOSSARY 167 BIOGRAPHICAL INFORMATION ON COMMITTEE MEMBERS 173 PARTICIPANTS 179 INDEX 179