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The Human Genome Project: Biology, Computers, and Privacy. INSTITUTION Biological Sciences Curriculum Study, Colorado Springs

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DOCUMENT RESUME ED 461 499 SE 061 488 AUTHOR Cutter, Mary Ann G.; Drexler, Edward; Gottesman, Kay S.; Goulding, Philip G.; McCullough, Laurence B.; McInerney, Joseph D.; Micikas, Lynda B.; Mural, Richard J.; Murray, Jeffrey C.; Zola, John TITLE The Human Genome Project: Biology, Computers, and Privacy. INSTITUTION Biological Sciences Curriculum Study, Colorado Springs. SPONS AGENCY Department of Energy, Washington, DC. PUB DATE 1996-00-00 NOTE 212p.; Distribution of material supported the U.S. Department of Energy and the University of Iowa Genome Center. Accompanying software not available from ERIC. CONTRACT DE-FG03-93ER61584 AVAILABLE FROM Biological Science and Curriculum Study, Colorado Springs, CO 80918-3842. Tel: 719-531-5550; Fax: 719-531-9104; e-mail: [email protected]; Web site: http://www.bscs.org. For full text: http://www.bscs.org/pdf/projects/HGN2/HGN-II.pdf. PUB TYPE Guides Classroom Learner (051) Guides Classroom Teacher (052) EDRS PRICE MF01/PC09 Plus Postage. DESCRIPTORS *Biology; *Ethics; Evolution; Genetic Engineering; *Genetics; High Schools; *Public Policy; Science Activities; *Science and Society; Science Curriculum; Science Education; Technology IDENTIFIERS Biological Sciences Curriculum Study; *Human Genome Project ABSTRACT This module, for high school teachers, is the second of two modules about the Human Genome Project (HGP) produced by the Biological Sciences Curriculum Study (BSCS). The first section of this module provides background information for teachers about the structure and objectives of the HGP, aspects of the science and technology that underlie the HGP, information science as it relates to the HGP, and ethics and public policy, especially as they concern information science and the HGP. This section also provides general information on teaching the activities provided in this module, general guidance for discussing values and controversial issues in the classl'oom, and specific assistance with the supporting software that can be used with this module. The second section of the module includes seven annotated classroom activities plus database software pertaining to genomic registries, explaining the outliers, genetic anticipation, control of information about genes, making public policy, and HGP data and evolutionary biology. (DDR) Reproductions supplied by EDRS are the best that can be made from the ori inal document. U S DEPARTMENT OF EDUCATION PERMISSION TO REPRODUCEAND Office of Educational Research and Improvement DISSEMINATE THIS MATERIAL HAS E UCATIONAL RESOURCES INFORMATION CENTER (ERIC) BEEN ANTED BY his document has been reproduced as re wed from the person or organization originating it O Minor changes have been made to improve reproduction quality TO THE EDUCATIONALRESOURCES Points of view or opinions stated in this INFORMATION CENTER (ERIC) document do not necessarily represent official OERI position or policy ( EIRTRBRSE SERRCH iN1 LGD Type: [Name ,nformr NGD Ualue: [Janet Schmidt 9gin Search 6 Sample No: 25 Name: Janet Schmidt Sex: Female New/ Age: 15 otr.Ar CurrentStatus: Janet is F starting 6, freshman I 41r 11. Parents'Names:Paul and Siblings'Names:Drewav0 Personal MedicalHer I prrsZ History: towa Family Medical Her1 r h- idnigh History: blood 1_ n. ied 1 ack. Drew, h 3h b Neil, her youi high Jp I. The Human Genome Project: Biology, Computers, and Privacy 1 BSCS 01311-010-2v1WAIIMIA The Human Genome Project: Biology, Computers, and Privacy BSCS Pikes Peak Research Park 5415 Mark Dab ling Blvd. Colorado Springs, Colorado 80918-3842 AUTHORS Mary Ann G. Cutter, Ph.D. Joseph D. McInerney University of Colorado, Colorado Springs BSCS Colorado Springs, Colorado Colorado Springs, Colorado Edward Drexler Lynda B. Micikas, Ph.D. Pius XI High School BSCS Milwaukee, Wisconsin Colorado Springs, Colorado Kay S. Gottesman Richard J. Mural, Ph.D. Genome Database Oak Ridge National Laboratory Johns Hopkins University Oak Ridge, Tennessee Baltimore, Maryland Jeffrey C. Murray, M.D. Philip G. Goulding University of Iowa BSCS Hospitals and Clinics Colorado Springs, Colorado Iowa City, Iowa Laurence B. McCullough, Ph.D. John Zola Center for Ethics, Medicine, and Public Issues The New Vista High School Baylor College of Medicine Boulder, Colorado Houston, Texas Copyright ©1996 by BSCS All rights reserved. You have the permission of BSCS to reproduce items in this module (including the software) for your classroom use. The copyright on this module, however, does not cover reproduction of these items for any other use. For permissionsand other rights under this copyright, please contact the Permissions Department, BSCS, Pikes Peak Research Park, 5415 Mark Dab ling Blvd., Colorado Springs, Colorado 80918-3842, U.S.A. The Installer for the Macintosh version of the software was created using Stuffit Installer Maker. Copyright ©1990-1996 Aladdin Systems, Inc. Development of this material was supported by the United States Department of Energy under grant number DE-FG03-93ER61584. Distribution of the material was supported by the United States Department of Energy and the University of Iowa Genome Center. Any opinions, findings, and conclusions or recommendatiOns expressed in the publication are those of the authors and do not neces- sarily reflect the views of the United States Department of Energy or of the University of Iowa Genome Center. 4 BSCS ADMINISTRATIVE STAFF Timothy H. Goldsmith, Ph.D., Chairman, Board of Directors Joseph D. McInerney, Director Larry Satkowiak, Chief Financial Officer PROJECT ADVISORY COMMITTEE Ken Bingman, Shawnee Mission West High School, Shawnee Mission, Kansas Kay S. Gottesman, Genome Database, Johns Hopkins University, Baltimore, Maryland Walter Hartung, Nederland High School, Nederland, Colorado Claire 0. Leonard, M.D., University of Utah, School of Medicine, Salt Lake City, Utah Richard J. Mural, Ph.D., Oak Ridge National Laboratory, Oak Ridge, Tennessee Jeffrey C. Murray, M.D., University of Iowa Hospitals and Clinics, Iowa City, Iowa Philip Reilly, M.D., J.D., Shriver Center, Waltham, Massachusetts Mark Rothstein, J.D., University of Houston Law Center, Houston, Texas PROJECT STAFF Joseph D. McInerney, Principal Investigator Lynda B. Micikas, Ph.D., Project Director Philip G. Goulding, Technology Specialist Randy K. Backe, Ph.D., Evaluator Pamela Van Scotter, Editor Jan Girard, Artist Dee Miller, Project Secretary COOPERATING ORGANIZATIONS American Society of Human Genetics Council of Regional Networks for Genetic Services National Society of Genetic Counselors FIELD-TEST TEACHERS Jonathan Bealer, Buena High School, Sierra Vista, Arizona Patty Cameron, San Dieguito High School, Encinitas, California William Carbone, Glen Rock Junior-Senior High School, Glen Rock, New Jersey Diana Doepken, Air Academy High School, USAFA, Colorado Theresa Estes, Southwest Science/Math Magnet, Kansas City, Missouri Sally House, Coconut Creek High School, Coconut Creek, Florida Jessie Klein, Ph.D., Middlesex Community College, Bedford, Massachusetts Theresa Knapp, Adlai E. Stevenson High School, Lincolnshire, Illinois Dennis McKinney, Orcas Island High School, Eastsound, Washington Brian Shmaefsky, Ph.D., Kingwood College, Kingwood, Texas Gary Stellern, John Muir High School, Pasadena, California Kelly Weiler, Garfield Heights High School, Garfield Heights, Ohio FIGURE CREDITS Figure 1: onion root tipJohn P. Limback (BIODISC) Figure 1: metaphase chromosome Gunther F. Bahr Computer-generated artPaige Thomas PRODUCTION Jan Girard, cover design Angela Greenwalt, typesetting and layout Joy Rasmussen, production support Judy Rasmussen, production support Barbara Resch, proofreading Amy Short, production support SoFTWARF DEW! nPMFNT Learning Systems Consultants, Inc., Colorado Springs, Colorado Bob Emmot Adam Hughes Robert Schoolfield Jeff Thomas 6 Table of Contents Foreword vii Module-at-a-Glance ix Section I: What Is the Human Genome Project? 1 Section II: The Science and Informatics of the Human Genome Project 7 Section III: Ethical and Public-Policy Dimensions of Research Databases and Registries 33 Implementation Support 47 Glossary 59 References 65 Annotated Student Activities Introductory Activity: The HGP and Electronic Databases 67 Activity 1: Genetic Registries 75 Activity 2: Explaining the Outliers 83 Activity 3: Genetic Anticipation 97 Activity 4: Who Should Control Information about My Genes? 109 Activity 5: Making Public Policy 121 Extension Activity: HGP Data and Evolutionary Biology 131 BLMs for Teacher Support Materials TS-1 BLMs for Student Materials 5-1 Evaluation Form E-1 Foreword It now is a commonplace to say that we live in an information age and that electronic management of information will be a central feature of life in the twenty-first century. The Clinton Administration talks of plans to expedite the exchange of information through data superhighways, and already we access multiple databases from our home computers and communicate almost instantly with colleagues around the world through electronic mail. Increasingly, the electronic management of information is becoming a central, indispensable feature of science as research produces ever more data that must be made accessible to the scientific community at large. The accurate storage and rapid retrieval of scientific data are nowhere more critical than in the Human Genome Project (HGP), whose intent is to map and sequence the 80,000 genes that make up the human genetic endowment. This endowment, the product of 3.5 billion years of evolution, contains approximately three billion nucleotides of DNA, a
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  • Methods to Detect Selection in Populations with Applications to the Human

    Methods to Detect Selection in Populations with Applications to the Human

    P1: FQP/VEN July 6, 2000 12:24 Annual Reviews AR104-19 Annu. Rev. Genomics Hum. Genet. 2000. 01:539–59 Copyright c 2000 by Annual Reviews. All rights reserved METHODS TO DETECT SELECTION IN POPULATIONS WITH APPLICATIONS TO THE HUMAN Martin Kreitman Department of Ecology and Evolution, University of Chicago, Chicago, Illinois 60637; e-mail: [email protected] Key Words natural selection, genetic drift, polymorphism, molecular evolution ■ Abstract The development of statistical tests of natural selection at the DNA level in population samples has been ongoing for the past 13 years. The current state of the field is reviewed, and the available tests of selection are described. All tests use predictions from the theory of neutrally evolving sites as a null hypothesis. Departures from equilibrium-neutral expectations can indicate the presence of natural selection acting either at one or more of the sites under investigation or at a sufficiently tightly linked site. Complications can arise in the interpretation of departures from neutrality if populations are not at equilibrium for mutation and genetic drift or if populations are subdivided, both of which are likely scenarios for humans. Attempts to understand the nonequilibrium configuration of silent polymorphism in human mitochondrial DNA illustrate the difficulty of distinguishing between selection and alternative demographic hypotheses. The range of plausible alternatives to selection will become better defined, however, as additional population genetic data sets become available, allowing better null models to be constructed. INTRODUCTION Kimura’s immensely influential formulation of the neutral theory of molecular evolution, which came in 1968, was based primarily on an argument about the magnitude of the genetic load that would be imposed by positive selection if it were the only driving force in protein evolution (56).
  • Human DNA Sequences: More Variation and Less Race

    Human DNA Sequences: More Variation and Less Race

    AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY 139:23–34 (2009) Human DNA Sequences: More Variation and Less Race Jeffrey C. Long,1* Jie Li,1 and Meghan E. Healy2 1Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109-5618 2Department of Anthropology, University of New Mexico, Albuquerque, NM 87131 KEY WORDS race; DNA sequence; short tandem repeat; diversity; hierachical models ABSTRACT Interest in genetic diversity within and sity is one of nested subsets, such that the diversity in between human populations as a way to answer questions non-Sub-Saharan African populations is essentially a sub- about race has intensified in light of recent advances in set of the diversity found in Sub-Saharan African popula- genome technology. The purpose of this article is to apply tions. The actual pattern of DNA diversity creates some a method of generalized hierarchical modeling to two unsettling problems for using race as meaningful genetic DNA data sets. The first data set consists of a small sam- categories. For example, the pattern of DNA diversity ple of individuals (n 5 32 total, from eight populations) implies that some populations belong to more than one who have been fully resequenced for 63 loci that encode a race (e.g., Europeans), whereas other populations do not total of 38,534 base pairs. The second data set consists of belong to any race at all (e.g., Sub-Saharan Africans). As a large sample of individuals (n 5 928 total, from 46 popu- Frank Livingstone noted long ago, the Linnean classifica- lations) who have been genotyped at 580 loci that encode tion system cannot accommodate this pattern because short tandem repeats.