Archive Site Provided for Historical Purposes
published April 1998
Program Manager: Daniel Drell
Department of Energy
19901 Germantown Road
Germantown, MD 20874
301/903-4742, Fax: -8521
The electronic form of this document may be cited in the following style: Human Genome Program, U.S. Department of Energy, "Projects in Ethical, Legal, and Social Issues," 1998.
Betty K. Mansfield
Human Genome Management Information System
Oak Ridge National Laboratory
Since the formal beginning of the Human Genome Project (HGP) in 1990, researchers have recognized that the resulting increase in knowledge about human biology and personal genetic information would raise a number of complex issues for individuals and society. To identify and define these issues, develop effective policies to address them, and promote an informed citizenry, the U.S. Department of Energy (DOE) and National Institutes of Health devote 3% to 5% of their annual HGP budgets to studies of the project's ethical, legal, and social implications (ELSI).
The world's largest bioethics undertaking, the U.S. genome project's ELSI program has become a model for others around the world. The ELSI component emphasizes the privacy of genetic information, its safe and effective introduction into the clinical setting, fairness in its use, and professional and public education. The program is focused on gaining an understanding of the ethnic, cultural, social, and psychological influences that will affect policy development and service delivery.
DOE ELSI Goals
As its portion of the total ELSI program, the DOE component supports peer-reviewed studies of the following:
Through conferences, seminars, publications, and Web sites, the DOE ELSI program also promotes education and knowledge about the HGP and its ELSI implications to such groups as institutional review boards, genetic researchers, judges, policymakers, and the public.
HGP Benefits and Challenges
The HGP's potential benefits are enormous for medicine, bioremediation, agriculture, and many other socially and economically important areas. As the project moves closer to its goal of obtaining the complete human reference DNA sequence by 2005, society will face questions surrounding differences in individual sequences and the implications of knowing those subtle distinctions before their biological effects are understood. Although many ELSI issues are not novel, they nonetheless remain challenging and need to be addressed. Only by dealing directly and openly with such issues through the collective best efforts of bioethicists, scientists, policymakers, and the public can the benefits of genome research be realized and the difficulties minimized.
We invite you to visit our Web sites (http://www.er.doe.gov/production/ober/HELSRD_top.html and http://www.ornl.gov/hgmis) to learn more about the work we are supporting. Current and past ELSI projects can be found in the DOE Human Genome Program reports and in the reports of DOE Human Genome Program Contractor-Grantee workshops. Many of these reports are available on the Web as well as in print from the Human Genome Management Information System at the address on the inside front cover of this booklet.
Daniel W. Drell, Ph.D.
DOE ELSI Program Manager
Debra L. Collins
Human Genome Teacher Networking Project
The Arc's Human Genome Education Project
Henry Greely and Barbara Koenig
Individualizing Medicine Through Genomics: Ethical, Legal, and Social Challenges
Michael A. Heller and Rebecca S. Eisenberg
Upstream Patents and Downstream Products: A Tragedy of the Anticommons?
Margaret C. Jefferson
The Hispanic Educational Genome Project
Joseph D. McInerney
Genes, Environment, and Human Behavior: Materials for High School Biology
The Science and Issues of Human DNA Polymorphisms
Microbial Literacy Collaborative
Robert J. Robbins
Electronic Scholarly Publishing: Foundations of Classical Genetics
Human Genome Project Education and Outreach Component
Sylvia J. Spengler
The Community College Initiative
AAAS Congressional Fellowship Program
Franklin M. Zweig
The Genetics Adjudication Resource Project
Debra L. Collins and Rebecca Knetter
Genetics Education Center; University of Kansas Medical Center; 3901 Rainbow Blvd.; Kansas City, KS 66160-7318
913/588-6043, Fax: -4060, firstname.lastname@example.org
Families, health care providers, and the general public all are increasingly aware of Human Genome Project (HGP) discoveries. However, many do not have a background in basic genetic information and therefore are not aware of, or prepared for, the ethical, legal, and social implications (ELSI) of this new technology and its applications. Our program helps prepare high school students for their future through updated information and resources from their biology teachers. Each teacher in this project has participated in educational activities over a 2-year period. These activities included two 1-week workshops spent preparing lesson plans, presenting peer teacher programs, and networking with other teachers, genetic professionals, and ELSI experts.
Between 1993 and 1997, 177 teachers attended a series of Human Genome Teacher Networking education workshops that addressed the applications of HGP technology, with a focus on ELSI. After the workshops, teachers used their new materials with students, then conducted peer and community education programs and contacted genetic and ELSI experts to enhance their classroom teaching. Networks among teachers, liaisons with genetic professionals, peer teacher programs, and online computer communications helped educators and their students obtain current human genetic information.
We measured student achievement as a result of the summer workshops and analyzed the improvement in teacher confidence and preparedness. Students of workshop teachers scored significantly higher on a survey of knowledge than comparable students whose teachers did not attend the workshop. Student literacy about science is increased on timely topics, and they gain knowledge of the Internet and other resources to find answers to new questions not available in current published textbooks.
Teachers were found to be prepared and confident about complex genome technology and applications, and some developed new school courses. Teachers gained a new awareness of the scientific as well as the personal aspects of the genome information. Teachers are enthusiastic about the education workshops and increase the amount of time devoted to genome and ELSI projects. They can present information at an appropriate pace.
Workshop resource materials, lesson plans, the mentor network, and resource teacher names are available though the Web site for this project: http://www.kumc.edu/gec (Genetics Education Center). Links are provided to other ELSI sites, career information, and genetic resources.
Jeff Alan Davidson
Pennsylvania Biotechnology Association; 1524 W. College Ave.; State College, PA 16801
814/238-4080, Fax: -4081, email@example.com
The Pennsylvania Biotechnology Association (PBA), in cooperation with the Alliance for Science Education (ASE), publishes the biotechnology science magazine Your World/Our World to introduce middle and high school students to the science and the social issues raised by modern biological research and technology. A special enlarged issue of Your World/Our World dealing with the science of genomics and the ethical, legal, and social issues (ELSI) raised by the Human Genome Project (HGP) was published with partial DOE funding in the spring of 1996.
PBA and ASE are creating additional instructional materials for use by middle and high school students to facilitate a more extensive presentation of subjects covered in the special issue. These materials are being built in two phases; first, to assemble and review for usefulness materials from other publishers and to continue PBA's development of new materials to create a comprehensive package of resources in several different media. The second phase is to run a national contest for science teachers and students to encourage classroom development of new and original approaches to teaching the material. Material from both phases will be packaged and made available to the 45,000 U.S. middle and high school biology teachers over the next 24 months.
This project is targeted at middle and high school teachers and students for several reasons: most studying and learning of biology occurs at that level in the United States, and students are generally very interested in biology and science at that age. Teachers can greatly assist students in considering the material but need more support in teaching about the HGP and ELSI. Materials expected to be included are the following:
Sharon Davis and Leigh Ann Reynolds
The Arc of the United States
500 E. Border Street, Ste. 300; Arlington, TX 76010
817/261-6003, Fax: /277-3491, firstname.lastname@example.org, email@example.com
New genetic findings from the Human Genome Project (HGP) pose unique ethical questions and legal and social concerns to those with disabilities and their family members. Many disorders associated with the disability of mental retardation have genetic causes, with Down syndrome and fragile X syndrome being the most common.
In an effort to begin addressing these complex issues, The Arc of the United States (with 140,000 members the largest voluntary organization on mental retardation in the country) developed a series of reports, fact sheets, and a training package for use by the organization's leadership to educate members about these important and timely issues. The materials were distributed to all 1100 chapters of The Arc and made available through the Internet. Some covered topics include:
The aim of this educational effort is to provide a basic understanding of genetic inheritance and mental retardation and to address the unique concerns faced by people with mental retardation and their families in light of new genetic research. Finally, inherited syndromes associated with mental retardation are highlighted to provide practical examples of how people with this disability are affected by HGP and to report on the latest research in genetic therapy.
The Arc's Human Genome Education Project: Examining Genetic Ethical, Legal and Social Issues is an interactive and comprehensive training package that includes a detailed script for the workshop leader, a pre- and post-questionnaire to measure changes in opinion and understanding of the issues, background information for the presenter, print copies of overheads, a project description to use in promoting the workshop, a 15-minute video, and other handouts. The most important objective of the training (to discuss highly complicated and sometimes controversial issues) is achieved through the use of case scenarios. In this challenging exercise, members learn how difficult it can be to make decisions regarding genetic testing, therapy, and discrimination on behalf of themselves or their children who have disorders either caused by or associated with mental retardation. By simplifying medical terminology and concepts, identifying core issues most threatening to those with disabilities, and utilizing practical case scenarios, members of The Arc are better equipped to make informed decisions and form educated opinions on ethical, legal, and social issues that impact the lives of people with mental retardation.
Henry Greely and Barbara Koenig
Center for Biomedical Ethics: Stanford University; 701 Welch Rd.; Bldg. A., Ste. 1105; Palo Alto, CA 94304
650/723-2517, Fax: /725-0253, firstname.lastname@example.org
Scientists, physicians, and industry increasingly are recognizing genetic variation's potential importance for medicine. The variation can be that of a pathogen, tumor, or healthy human tissue, and medical implications may be in prevention, treatment, or prognosis. In all these respects, the potential for applying individualized genomic information to medicine is an extension of existing knowledge based on the growing availability of inexpensive and convenient determination of the DNA sequence in known genes.
From September 1997 through the fall of 1998, the third annual working group of the Stanford Program in Genomics, Ethics, and Society (PGES) is engaging in a detailed investigation of the implications of individualizing medicine through genomics. Once the working group has prepared draft recommendations, it will hold a conference at or near Stanford University to discuss, criticize, publicize, and revise the recommendations.
Since its inception in September 1995, PGES has included as a central mission the preparation of an annual report on an issue of immediate public significance involving the effects of genomics, genetics, and molecular biology on society. In its first 2 years, the PGES working groups looked at the implications of specific available genetic tests. Through these working groups, PGES has created an effective process for studying the societal implications of new genetic knowledge. It has disseminated its results through conferences, television, medical journals, reports, Web sites, and books for the lay public.
Some examples of topics to be examined by the current working group include:
Public Responsibility in Medicine and Research; 132 Boylston St., 4th Floor; Boston, MA 02116
617/423-4112, Fax: -1185, email@example.com or firstname.lastname@example.org
Institutional Review Boards (IRBs) are under extreme pressure to provide adequate review of all manner of procedures. Underlying the IRBs' responsibility for protecting the rights and welfare of all human research subjects is the central assumption that each IRB will possess or develop the requisite expertise to accomplish this mission adequately. The increasingly complex ethical, regulatory, and scientific issues presented to IRBs challenge the validity of this assumption.
As new genomics and technology companies engage more and more in clinical studies involving human subjects or tissues, they seem to be designing and implementing studies in the absence of IRB-like review, that is, review with attention to protecting human subjects.
Thus, there is a confluence of needs in the review of genomic protocols: IRBs, as nongenetic professionals overburdened with increasing responsibilities, need help in understanding how to review such protocols. Private industry genomics researchers and managers need help in creating external IRB-like review of their procedures to ensure protection of human subjects.
A common request from IRBs has been for any kind of structure, algorithm, or checklist that could be used in protocol review. Several national conference organizations report that bioethics is the most frequently requested new subject for workshops and speakers at the genomic, diagnostics, and new therapeutics conference.
PRIM&R, which has completed several preliminary projects to explore the needs of IRBs in reviewing genomic procedures, is poised to develop concrete materials for addressing these perceived needs. Furthermore, the organization has striven to emphasize the importance of including private industry in all efforts to improve the oversight of genomics research, recognizing that 60% of genomics funding is spent by private industry.
Because charts and checklists are useful only in the context of informed users, PRIM&R is focusing its efforts on educating IRBs in the special language, technologies, and issues that typify these protocols. To accomplish this goal, PRIM&R will solicit existing relevant materials that have been generated by IRBs, companies, or policy boards regarding informed consent, protocol review, and review-board development. Four focus groups will seek to articulate specific stumbling blocks in protocol review and suggest methods for overcoming the blocks. Guidance tools suggested by the focus groups will be drafted and presented at a conference aimed at both academic IRBs and the research leaders in private industry. Finally, the written guidance material will be made available to IRBs and companies interested in research using human subjects.
Michael A. Heller and Rebecca S. Eisenberg
University of Michigan Law School; University of Michigan, Ann Arbor; 625 S. State St.; 408 Hutchins Hall; Ann Arbor, MI 48109-1215
313/763-1372, Fax: -9375, email@example.com
The past 20 years have witnessed significant privatization of premarket or "upstream" stages of biomedical research. In an earlier era, such research typically was performed in the public sector and made freely available in the public domain to "downstream" users. Today, public and private institutions are increasingly likely to patent biomedical research discoveries that are several steps removed from end-product development. Patent rights have been credited with a conspicuous increase in private funding for biotechnology research. Yet paradoxically, a proliferation of patent rights in upstream discoveries could create barriers to the development of new pharmaceutical products farther downstream in the R&D process.
We propose a theory of anticommons property to explain how too many upstream intellectual property rights may lead to too few downstream products. Anticommons property may be understood as the mirror image of commons property. In the familiar tragedy of the commons, too many owners have the privilege to use scarce resources, and the property is prone to overuse. By contrast, in a tragedy of the anticommons, too many owners have the right to exclude others from using a scarce resource, and the resource is prone to underuse. Anticommons property may arise whenever governments define new property rights that are too fragmented. Empty storefronts in Moscow provide one stark example of this phenomenon. Transition regimes charged with privatization have endowed multiple owners with overlapping rights in each storefront, so no owner holds a usable bundle of rights to convey to an entrepreneur who wishes to set up shop. As a result, scarce property is wasted. Once an anticommons emerges, collecting rights into usable bundles can be brutal and slow.
Like postsocialist transition regimes, intellectual property systems constantly are creating new property rights. An anticommons could arise if multiple owners obtain fragmented patent rights that are difficult to assemble into usable bundles. The anticommons model provides one way of understanding a widespread intuition that issuing patents on gene fragments makes little sense. Depending on their scope, patent rights in gene fragments could lead to the emergence of a genomic anticommons in which a product developer requiring use of a full-length gene or a set of polymorphic markers useful in diagnosing disease might be stymied by the costs of bundling licenses from many patent owners. Up to a point, privatization may enhance efficiency by spurring investment in upstream research. But privatization can go astray. When the legal system creates too many fragmented intellectual property rights, a tragedy of the anticommons could block the development of new pharmaceutical products.
Margaret C. Jefferson, Mary Ann Sesma,1 and Patricia Ordonez
Department of Biology and Microbiology; California State University; Los Angeles CA 90032-8201
213/343-2059, Fax: -2095, firstname.lastname@example.org
1Los Angeles Unified School District
The primary objectives of this grant are to develop, implement, and distribute culturally competent, linguistically appropriate, and relevant curricula leading to Hispanic student and family interactions regarding the science and the ethical, legal, and social issues (ELSI) of the Human Genome Project (HGP). By opening up channels of dialogue between parents and their high school students, entire families can be exposed to genetic health and educational information and opportunities. In addition, greater interaction is anticipated between students and teachers and between parents and teachers.
Participating high schools have taken different approaches to exposing students and parents to the science and ELSI of HGP. Some schools have divided students into research teams from various biology classes, with each team analyzing small segments of their own DNA. In other schools, science classes follow components of the University of Washington High School Human Genome Program or the curriculum developed by the Biological Sciences Curriculum Study. Still others have used materials developed by various science teachers in the Los Angeles Unified School District. Several classes (e.g., Spanish, English, journalism, and social science) have developed ELSI newsletters for distribution to parents. In addition, math and computer science classes from one of the schools are helping to construct our Web page. Each participating school also is expected to have parent focus groups that usually meet in the evening once a month to discuss various genetic health issues and implications of HGP.
J. S. Kotval, D. Dewar, and S. Brynildsen
School of Public Health, University at Albany; One University Place; Rensselaer, NY 12144-3456
518/402-0301, Fax: -0414, email@example.com
Previous policies to protect the confidentiality of DNA-based tests have centered on protecting the dispersion of genetic information. In general, the goal has been to keep information from passing outside a healthcare institution to third parties who might discriminate against patients in employment, access to healthcare, and other areas of civic life. We are focusing our attention on the threats to patient welfare created within the setting of the market-driven managed care organization (MCO).
This setting presents unique ethical dilemmas, since physicians (and, often, personnel at testing laboratories) are employees of the MCO and the payor and provider functions are contained within the same entity. In this context, the institutional imperative of cost savings to capture market share could lead to discrimination in healthcare access (either through outright denial of enrollment or through prohibitive premiums) if DNA-based tests reveal the likelihood of future high-cost illnesses.
Our group, which spans the disciplines of genetics, medical ethics, health economics, and the law, seeks to (i) formulate an ethical construct for medical confidentiality with a view to defining its core ethical functions and its limitations in the changing healthcare system; (ii) examine the practices and institutional imperatives of market-driven MCOs to understand the context in which the DNA-based tests would be used and to assess the cost of confidentiality measures; (iii) identify gaps in the policy framework that could allow misuse of confidential medical information within the MCO; and (iv) make recommendations to remediate these gaps in policy in a manner that is applicable and practical to MCOs.
Progress to date includes a preliminary formulation of confidentiality concerns raised in the market-driven managed care setting and the design of a survey instrument to assess the institutional and marketing practices of MCOs. We are paying specific attention to the current practices of MCOs that encroach on the core ethical concerns of medical confidentiality.
Joseph D. McInerney and Michael J. Dougherty
5415 Mark Dabling Blvd.; Colorado Springs, CO 80918-3842
719/531-5550, Fax: -9104, firstname.lastname@example.org
The Biological Sciences Curriculum Study (BSCS) is developing an instructional module on genetics and human behavior for use in introductory high school biology. The module will rectify the deficient treatment of the biology of behavior in the current curriculum and will help to dispel misconceptions about genes and human behavior that often pervade media reports of research in this area. The materials also will address some of the ethical, legal, and social issues generated by research into the biological basis of behavior and will help to change traditional assumptions about the teaching of genetics at the high school level.
The project employs the process of curriculum development that BSCS has refined continually since the inception of the organization in 1958. In addition, development of the module draws upon the experience BSCS acquired during the development, distribution, and implementation of three genome-related instructional modules between 1991 and 1996. This experience includes writing conferences, pilot and field testing of draft materials, and periodic reviews of progress by members of the education committees of the National Society of Genetic Counselors, the American Society of Human Genetics, the Council of Regional Networks for Genetic Services, and other independent experts in genetics.
In late July 1997, BSCS completed the first of two writing conferences during which experts in behavioral and medical genetics, ethics, and high school biology teaching produced a draft module containing instructional activities for students and extensive background materials for teachers. The draft instructional activities are designed to help students move through the following ideas:
To test the effectiveness of the draft module in helping students understand how genes and environment influence human behavior, BSCS pilot tested several activities in October 1997. Following analysis of these data, BSCS is refining the materials, conducting a complete field test, convening a second writing conference, producing the final module, and distributing the module free of charge to all interested high school biology teachers.
David Micklos, Mark Bloom, Scott Bronson, and John Kruper
DNA Learning Center; Cold Spring Harbor Laboratory; 1 Bungtown Road; Cold Spring Harbor, NY 11724
516/367-7240, Fax: -3043, email@example.com
This ELSI training program introduces high school biology faculty to a laboratory-based unit on human DNA polymorphisms that provides a uniquely personal perspective on the science and ELSI aspects of the Human Genome Project. By targeting motivated biology faculty who currently perform student laboratories with viral and bacterial DNA, this program offers a cost-effective means to bring high school biology education up to the minute with genomic biology. In October and November 1997, we instructed the first of 12 nationwide workshops at Mt. Sinai School of Medicine (New York), Boston University School of Medicine (Massachusetts), and Canada College (California).
The program is based on laboratory and computer technology, developed at the DNA Learning Center and the University of Chicago, that makes human DNA "fingerprinting" by polymerase chain reaction (PCR) accessible and affordable for high school use. Program participants learn simplified lab techniques for amplifying two types of chromosomal polymorphisms-an Alu insertion (TPA-25) and a VNTR (D1S80). These polymorphisms illustrate the use of DNA variations in disease diagnosis, forensic biology, and identity testing and provide a starting point for discussion of the uses and potential abuses of genetic technology.
Workshop participants amplify their own polymorphisms from DNA obtained from rapid preparations of buccal cells and hair sheaths. The loci are amplified using rapid cycling profiles and analyzed on agarose gels. To further reduce the cost of experiments, we have developed the Biogenerator, the first inexpensive ($900) thermal cycler licensed for precollege use. This "Rube Goldberg" thermal cycler articulates with a Macintosh computer and gives results comparable to commercial machines.
Using a facility at our Web site, the Alu insertion data are further used as an entree into human population genetics and genome diversity. The "Student Allele Database" has forms for entering student-generated data, as well as archival data from populations around the world. Several statistical functions are available: testing Hardy-Weinberg equilibrium within a single population, measuring genetic distance between two populations, and comparing two populations using contingency chi-square. A "Monte Carlo" generator shows the effect of genetic drift in small populations.
During the summer, we developed reliable methods for generating mitochondrial DNA sequence from buccal and hair samples. We hope to introduce this technology at as many DOE workshop sites as possible. Workshop participants can then use their own mitochondrial DNA sequence as an entree to modern bioinformatics. Our WWW site has a step-by-step template for analyzing mitochondrial DNA sequence including similarity searches, multiple sequence alignments, a recreation of the Neanderthal DNA analysis, and the identification of the Romanov family remains. Ultimately, we envision students preamplifying their mitochondrial DNAs and performing dye terminator reactions at their own schools. The ready-to-sequence DNAs then would be sent to regional centers for sequencing and the results would be posted by Internet.
Thus, we are striving to develop a robust and accurate analog of human genome research that allows students to use their own chromosomal and mitochondrial DNA polymorphisms as the basis of explorations into contemporary genomic biology.
Maureen Munn and Leroy Hood
High School Human Genome Program; Department of Molecular Biotechnology; University of Washington, Box 352145; Seattle, WA 98195
206/616-4538, Fax: /685-7344, firstname.lastname@example.org
The High School Human Genome Program (HSHGP) encourages high school students to think constructively about the scientific and ethical issues of genomic research by enabling them to participate in both. This program supports many of the teaching objectives presented in the National Science Education Standards (1996), including meeting the content standards for genetics education, teaching science through inquiry, and developing a learning community of teachers and scientists to promote better science education. Participating students learn about many career options in science through discussions with scientist mentors who assist during classroom experiments, and the lab experiences help to prepare them for future employment.
A. Program modules. DNA Synthesis is an introductory experiment that helps students develop their laboratory skills and learn about DNA structure and replication. During the DNA Sequencing experiment, students sequence a region of chromosome 5 that is involved in a hereditary form of deafness. This project is made possible through a collaboration with Eric Lynch and Mary-Claire King from the Departments of Genetics and Medicine at the University of Washington. The Ethics unit, which focuses on presymptomatic testing for Huntington's disease, helps students develop the skills to define ethical issues, ask and research relevant questions about a particular topic, and make justifiable ethical decisions. The module was developed by Sharon Durfy and Robert Hansen from the U.W. Department of Medical History and Ethics.
B. Teacher Preparation and Classroom Implementation. Local, regional, and national teachers attend a weeklong summer workshop that provides training in program modules, informal seminars, and discussions of relevant topics.
C. Equipment Kit Loans. During the academic year, local teachers are provided with the necessary equipment, supplies, and technical assistance to carry out the classroom experiments. Teachers from distant sites receive DNA templates and primers and ongoing technical advice. This program currently is serving 32 high school teachers at 15 schools in Washington state and 13 other teachers nationally.
D. HSHGP Web site. This site, intended as a resource for teachers and students everywhere, contains the following:
Program modules. These are available online or in a downloadable version.
Online DNA assembly and data analysis. This tutorial enables students to carry out assembly of sequencing data from the Web site, using the demonstration version of the DNA assembly program, Sequencer, and a folder of student data files.
Virtual DNA sequencing. This tutorial enables simulated DNA sequencing by classrooms that are unable to do the full sequencing experiment. Scans of student sequencing ladders are provided, and portions of our teaching modules useful for simulating DNA sequencing are highlighted.
Future tutorials on the Web site: Online research projects. In the future, we will develop tutorials that help students access DNA and protein databases and related analysis software and understand what the analysis software is doing. Once students understand these tools, they will be able to design and explore their own plan research problems.
Exploring ethical issues related to genomic research. We plan to develop additional modules that emphasize how the decision-making process can be used to examine any ethical issue.
Communication among program participants. Discussion boards will be set up so that participants can discuss technical problems and solutions, ask research questions, and exchange classroom tips.
American Society of Microbiology; Lahey Hitchcock Medical Center; 41 Mall Road; Burlington, MA 01805
617/273-8936, Fax: -5208, email@example.com
The Microbial Literacy Collaborative (MLC) is a partnership of organizations dedicated to enhancing public understanding of microorganisms and the roles they play in sustaining the planet. Partners include the American Society for Microbiology, Baker & Simon, Oregon Public Broadcasting, the Association of Science and Technology Centers, and the American Association for the Advancement of Science. MLC's initiatives include:
The scientific messages delivered through these projects will promote a balanced view of our interactions with our microbial partners on the planet. One of MLC's primary goals is to dispel the public anxiety about microorganisms that has been created through intensive media focus on microbes as disease agents. Viewers and participants will be introduced to broad concepts such as the following:
MLC's three initiatives received a guarantee for complete funding in May 1997. The intellectual framework for the science documentary was established at a seminal meeting of the Science Advisory Group held in Woods Hole, Massachusetts, 3 years before funding. The production staff, who officially began work in October 1997, are participating in "microbiology school" and formulating story lines for the four-part series to reflect the scientific content.
Planning for the Annenberg-sponsored telecourse began in midsummer 1997 with a meeting of the Science Education Advisory group. The group has finalized curricular content and learning objectives for an accredited college-level telecourse.
The Advisory Group to the informal set of initiatives met in September 1997 for a 3-day planning meeting to discuss the hands-on activities to accompany each of their dissemination plans.
Robert J. Robbins
Fred Hutchinson Cancer Research Center; 1124 Columbia St., LV-101; Seattle, WA 98104
206/667-4778, Fax: -6223, firstname.lastname@example.org
With the continuing success of the Human Genome Project (HGP), more and more people are interested in the project and wish to understand its results and its significant ethical, legal, and social implications. In addition to its importance in the training of professional geneticists, the HGP is of special relevance for undergraduate training in basic biology and even for high school and other K-12 education.
Interest, however, is not enough. Real understanding of HGP research results requires some familiarity with basic genetics. In particular, most of the methods and findings of molecular genetics are essentially inaccessible to those without appropriate training. On the other hand, both the methods and results of early work in classical genetics can be appreciated by virtually anyone: cross a black mouse with a white mouse, count the progeny of different colors, then try to figure out what might be going on.
Familiarity with the basic notions of classical genetics is essential for a simple appreciation of HGP's significance, and a more detailed knowledge of classical genetics (including an appreciation of the question, What is the chemical nature of the gene?) can provide a basis for genuine understanding of HGP findings. Gaining this basic understanding of classical genetics is becoming more difficult, even for science majors. The runaway success of modern molecular genetics is driving the detailed presentation of classical genetics out of most textbooks, and the original literature is increasingly difficult to obtain.
To address these problems, we have established an electronic educational resource at which classic literature (both papers and monographs) that established the foundations of modern genetics is being republished online, freely accessible to all. Works are being made available in a variety of formats including simple HTML, Adobe PDF files containing high-quality typeset republications, and Adobe PDF files containing image facsimiles of the original publication. The fundamental work of Gregor Mendel, for example, is available as both a typeset republication and as an image facsimile of the original 1865 publication.
Work thus far has involved (1) moving the original prototype site from Johns Hopkins to Seattle; (2) redesigning the site to make it easier to understand and use and especially to prepare it to handle more data and more traffic; (3) establishing high-efficiency systems for converting paper publications into electronic form; and (4) acquiring material for republication. When full-scale publication began in January 1998, we anticipated publishing the equivalent of a 25-page paper every day.
Mark A. Rothstein, Steven G. Craig, and Betsy D. Gelb
Health Law and Policy Institute; University of Houston 104 TU2; 4800 Calhoun Road; Houston, TX 77204-6381
713/743-2105, Fax: -2117, email@example.com
Under the Americans with Disabilities Act, after a conditional offer of employment is made, an employer is permitted to conduct medical examinations of unlimited scope and may require the release of all medical records in the possession of the individual's healthcare providers. Allowing unlimited access to personal medical records not only facilitates surreptitious discrimination, but it invades the privacy of individuals and discourages at-risk individuals from undergoing genetic testing in the clinical setting.
Pursuant to a law enacted in 1983, Minnesota is the only state to restrict the scope of all medical inquiries by employers to matters that are strictly job related and consistent with business necessity. If this law has had no adverse effects on employers or other parties, it may serve as a model for protecting genetic privacy in the workplace.
We are using the following three main methods to measure the effects of the law: (1) reviewing and analyzing all cases filed under this law in the last 5 years; (2) surveying human resource managers in Minnesota (using Ohio as a control state) to learn their opinions about limitations on the scope of preplacement medical examinations; and (3) doing an economic analysis in Minnesota (with Ohio as the control state) of workers' compensation claim rates, employee turnover rates, productivity rates, health-insurance claim rates, and other data.
The data-collection phase is well under way and was expected to be completed by the end of 1997. Analysis of the data will help determine whether this legislative approach is a viable alternative to current proposals for prohibiting genetic discrimination in employment.
Self Reliance Foundation; 121 Sandoval Street, Third Floor; Santa Fe, NM 87501
505/984-0080, Fax: /982-6889, firstname.lastname@example.org
Self Reliance Foundation (SRF), in collaboration with the Hispanic Radio Network (HRN) and National Center for Genome Resources (NCGR), presents a series of Spanish radio episodes within its ongoing, nationally syndicated science and technology series Buscando la Belleza ("In Search of Beauty and Well-Being"). The goal is to introduce and widely disseminate Human Genome Project information to the 17 million Hispanics who listen to Spanish radio and to explore various themes related to the ethical, legal, and social implications (ELSI) of current research and technology.
Spanish radio, together with SRF's bilingual 800 number Outreach Information and Referral Service, motivates listeners to access the resources available for further education on these issues. It also facilitates the participation of Hispanic adults in research projects and informal discussions related to genetic research.
Funding by the DOE-ELSI program supports the production of 50 new episodes of Buscando la Belleza for broadcast over 2 years; extensive, national outreach information and referral services; and a linked Web site.
NoelEye Documentaries; 1327 Church St.; San Francisco, CA 94114
415/282-5620, Fax: -0230
Seeking Truth, Finding Justice is a series of three 1-hour documentaries for national PBS to be broadcast in the fall of 1999. Designed to bring the American public into an informed debate about the relationship between science and the law, Seeking Truth, Finding Justice will explore not only the impact of cutting-edge science (like genetic technology) on the courts but also its profound effect on our relationships, our institutions, and our notions of truth, justice, and individual rights. In three parts, Seeking Truth, Finding Justice will profile judges and scientists, lay people, and lawyers as they grapple with questions of science and law in a handful of actual cases. Through the eyes and experience of people engaged with science and the law, Seeking Truth, Finding Justice will look at how science and the courts struggle to make sense of the moral, material, and institutional changes brought on by a technological society.
In Part One, Novel Cases will demonstrate how new technologies such as genetics create unexpected, unprecedented legal conflicts. In Part Two, Judging Science will examine what happens when new laws oblige the courts to distinguish between "good" and "bad" science. In Part Three, Burdens and Proofs will explore the high stakes and challenges raised by science for our democratic institutions.
Bari Scott and Jude Thilman
SoundVision Productions; 2991 Shattuck Ave., Ste. 304; Berkeley, CA 94705
510/486-1185, Fax: -1287, email@example.com or firstname.lastname@example.org
The DNA Files is a series of nationally distributed public radio programs to further public education on developments in genetic science. Program content is guided by a distinguished body of advisors and will include the voices of prominent genetic researchers, people affected by advances in the clinical application of genetic medicine, members of the biotechnology industry, and others from related fields. They will provide real-life examples of the complex social and ethical issues associated with discoveries in genetics. In addition to the general public radio audience, the series will target educators, scientists, and involved professionals. Ancillary educational materials will be distributed in paper and digital form through collaborative organizations and in fulfillment of listener requests.
With information linking major diseases such as breast cancer, colon cancer, and arteriosclerosis to genetic factors, new dangers in public perception emerge. Many people who hear about the new discoveries mistakenly conclude that these diseases now can be easily diagnosed and even cured. On the other end of the public-perception spectrum, unfounded fears of extreme, and highly unlikely, consequences also appear. Will society now genetically engineer whole generations of people with "designer genes" offering more desirable physical qualities? The DNA Files will ground public understanding of these issues in reality. A live, 2-hour call-in show will cover the broad scope of human genetic research and its applications. It will include a discussion with experts and a chance for listeners at home to make comments and ask questions.
Nine 1-hour documentaries will provide the basic science of DNA, genes, and heredity while illustrating the accompanying social and ethical issues. "DNA and the Law," for example, reviews the scientific basis for genetic fingerprinting and looks at cases of alleged genetic discrimination by insurance companies, employers, and others. "Gene Therapy: Medicine for Our Genes" takes on popular descriptions of genetic therapy derived from stories like Jurassic Park and attempts to help us realistically understand the science, as well as its promise, limits, and social implications. Other shows include "The Commercialization of Genetics," "Prenatal Genetic Testing: Better Babies Through Science," and "Genetic Evolution, Diversity and Kinship."
Maria Sosa, Judy Kass, and Tracy Gath
American Association for the Advancement of Science; 1200 New York Avenue, NW; Washington, DC 20005
202/326-6453, Fax: /371-9849, email@example.com
Recent literacy surveys have found that a large number of adults lack the skills to bring meaning to much of what is written about science. This, in effect, denies these adults access to vital information about their health and well-being. To address this need, the American Association for the Advancement of Science (AAAS) has developed a 2-year project to provide low-literate adults with the background knowledge necessary to address the social, ethical, and legal implications of the Human Genome Project.
With its Science + Literacy for Health: Human Genome Project, AAAS used its existing network of adult education providers and volunteer science and health professionals to pursue the following overall objectives: (1) develop new materials for adult literacy classes, including a high-interest reading book, a short video providing background information on genetics, a database of resources, and fact sheets to assist other organizations and researchers in preparing easy-to-read materials about the project, and (2) develop and conduct a campaign to disseminate the materials to libraries and community organizations carrying out literacy programs throughout the United States. To introduce the materials to low-literate adults, workshops were conducted in Baltimore, Chicago, Miami, Cleveland, and Washington, D.C. In 1997, thousands of copies of the book and video, both titled Your Genes, Your Choices, were sent to literacy educators, community colleges, church groups, libraries, and other organizations around the country. In each workshop, a genetic counselor or other genetic professional was present to answer questions and provide insight into genetic research and issues. The entire book is also available on the Web at www.ornl.gov/hgmis/publicat/genechoice/index.shtml.
Our model for helping scientists communicate in simple language will have impact beyond classrooms. Because not every low-literate adult is enrolled in a literacy class, we developed a model that reaches out to community groups providing health services. These groups have indicated that easy-to-read materials on genetics are not only desirable but necessary; indeed, the groups we worked with often received requests for information on heredity and genetics. Your Genes, Your Choices enables medical and scientific organizations to communicate more effectively with economically disadvantaged populations that often include a large number of low-literate individuals.
Sylvia J. Spengler1 and Laurel Egenberger2
1Life Sciences Division, 2Center for Science and Engineering Education; E. O. Lawrence Berkeley National Laboratory, MS Donner 459; 1 Cyclotron Road; Berkeley, CA 94720
510/486-4879, Fax: -5717, firstname.lastname@example.org
The Community College Initiative prepares community college students for work in biotechnology. In the combined efforts of Lawrence Berkeley National Laboratory and the California community colleges, we aim to develop mechanisms to encourage students to pursue science studies, participate in the forefront of laboratory research, and gain work experience. The initiative is structured to upgrade the skills of students and their instructors through four components.
Summer Student Workshops: Four-week summer residential programs for students who have completed the first year of the biotechnology academic program. Ethical, legal, and social concerns are integrated into the laboratory exercises, and students learn to identify the commonly shared values of the scientific community as well as to increase their understanding of issues of personal and public concern. In the 2-year period of the grant, we have involved over 20 students. Students in the second summer have had laboratory internships.
Teacher Workshop Training: Seminars for biotechnology instructors to improve, upgrade, and update their understanding of current technology and laboratory practices, with emphasis on curriculum development in current topics in ethical, legal, and social issues in science. These workshops have involved the students as well.
Sabbatical Fellowships: For community college instructors to provide investigative and field experience in research laboratories. During the fellowship, teachers also assist in development of student summer research activities.
The American Society of Human Genetics; Bethesda, MD 20814-3998
301/571-1825, Fax: /530-7079, email@example.com
Few individuals in the genetics community are conversant with federal mechanisms for developing and implementing policy on human genetics research. In 1995 the American Society of Human Genetics (ASHG), in conjunction with DOE, initiated an American Association for the Advancement of Science (AAAS) Congressional Fellowship Program to strengthen the dialogue between the professional genetics community and federal policymakers. The fellowship will allow genetics professionals to spend a year as special legislative assistants on the staff of members of Congress or on congressional committees. Directed toward productive scientists, the program is intended to attract independent investigators.
In addition to educating the scientific community about the public policy process, the fellowship is expected to demonstrate the value of science-government interactions and make practical contributions to the effective use of scientific and technical knowledge in government. The program includes an orientation to legislative and executive operations and a year-long weekly seminar on issues involving science and public policy.
Unlike similar government programs, this fellowship is aimed primarily at scientists outside government. It emphasizes policy-oriented public service rather than observational learning and designates its fellows as free agents rather than representatives of their sponsoring societies.
One of the goals of DOE and ASHG is to develop a group of nongovernmental professionals who will be equipped to deal with issues concerning human genetics policy development and implementation, particularly in the current environment of health-care reform and managed care. Graduates of this program will serve as a resource for consultation in the development of public-health policy concerning genetic disease.
Fellowship candidates must demonstrate exceptional basic understanding of and competence in human genetics; hold an earned degree in genetics, biology, life sciences, or a similar field; have a well-grounded and appropriately documented scientific and technical background; have a broad professional background in the practice of human genetics as demonstrated by national or international reputation; be cognizant of related nonscientific matters that impact on human genetics; exhibit sensitivity toward political and social issues; have a strong interest and some experience in applying personal knowledge toward the solution of social problems; be a member of ASHG; be articulate, literate, adaptable, and interested in working on long-range public policy problems; be able to work with a variety of people of diverse professional backgrounds; and function well during periods of intense pressure.
The first fellow worked in the office of Senator Wellstone, Democrat from Minnesota, from September 1995 through August 1996 devoting most of his time to studying and commenting on health-care and science issues. During the fellowship he created a network of individuals on the Hill who had expressed an interest in discussing discrimination and privacy issues related to human genetics.
The second fellow worked in the office of Senator Pete Domenici, Republican from New Mexico, from September 1996 through December 1997. An omnibus genetics bill had been developed before she began her fellowship. She worked with the senator and his staff and entered into dialogues with numerous private-sector representatives in an effort to revise the bill, an activity that lasted through 1997. Her recommendation to her successor was to change the months of involvement from September through August to January through December.
A new fellow identified by the ASHG AAAS Congressional Fellow Selection Committee will begin her fellowship year on January 1, 1999. She plans to attend the 3-week orientation session offered by AAAS in August 1998.
Sara L. Tobin and Ann Boughton1
Program for Genomics, Ethics, and Society; Stanford University Center for Biomedical Ethics; Bldg. A, Ste. 1105; 701 Welch Road; Palo Alto, CA 94304
415/725-2663, Fax: -6131, firstname.lastname@example.org
1Thumbnail Graphics, email@example.com
The knowledge gained from the Human Genome Project has the potential to correlate molecular diagnosis with effective treatments and to lead the way to novel medical interventions. The molecular tools that have emerged from genetic studies are changing the face of medical practice and inaugurating a transitional period that will be uncomfortable for both physicians and the public. There will be marketing pressures, healthcare industry changes, uneven supporting resources, variable training of physicians, and limited public understanding. We have designed an interactive, multimedia CD-ROM course to ease this transition for the majority of physicians, who have received little or no training in clinical applications of molecular genetics because the field has developed so recently.
The courseware, entitled "The New Genetics: Courseware for Physicians. Molecular Concepts, Applications, and Implications," will provide accredited continuing education for practicing physicians through the Stanford University Office of Postgraduate Medical Education.
It is important for physicians to understand the modern clinical applications of molecular genetics for several reasons. First, physicians will be explaining genetic tests and their implications to their patients, selecting specific tests, and interpreting the results. Second, physicians must be able to work productively with other health professionals, including genetic counselors and psychologists. Third, standards of practice that will govern the application of molecular genetic diagnosis to patient care currently are under development, and physicians need to contribute to this evolution. Fourth, a lack of training in modern genetics prevents many physicians from understanding much current medical research. Finally, physicians with training in molecular medical genetics can serve as informed resource persons and enhance the level of public understanding of and appreciation for the Human Genome Project in their communities.
The CD format confers multiple advantages for continuing medical education. The delivery of course materials via CD-ROM frees the physician from a presentation schedule and does not require travel and time away from a busy practice. CDs function as an improved teaching resource because of their interactivity and multimedia capability. We have designed a streamlined, accessible, navigational system tailored to the needs of the busy (and possibly computer-naive) physician. Engaging interactive features and animations have been created to convey complex concepts. The course content is supervised by a Board of Advisors. While the Internet is currently too slow to serve as the primary delivery system, we are programming the CD to accept updates and supplements from the Internet or from a subscription floppy.
Dorothy C. Wertz, Philip P. Reilly, and Robin J. R. Blatt
Eunice Kennedy Shriver Center for Mental Retardation; 200 Trapelo Road; Waltham, MA 02254
The Gene Letter has reached a wide audience, with 348,412 hits and 54,083 user sessions between September 18, 1996, and October 6, 1997. Current readership is about 9000 user sessions per month (323 per day) with an average length of 7 minutes. Readers range from elementary school to graduate and professional school students and include people with genetic conditions, lawyers, and medical professionals. Some 17% of users are from other countries, including Canada, Australia, United Kingdom, Sweden, Japan, France, Germany, Singapore, Malaysia, New Zealand, Israel, Norway, Brazil, and Italy. In the issues published to date, the newsletter content includes ethics, science, medicine, law, international views, education, society, book reviews, and a digest of news about genetics. Reader interest has focused on cloning, the genetics of homosexuality, "The Calico Cat," "The Munchkin and Achondroplasia," "Adam, Eve, and Mitochondria," and basic information about genetic testing. Rather than focusing on ethical concerns, reader queries have centered on popular science issues (cloning, Jurassic Park), accuracy of paternity testing, causes of miscarriage, insurance coverage, and material for student papers. This project demonstrates the feasibility of using the Internet to educate people about genetics.
Franklin M. Zweig
Einstein Institute for Science, Health, and the Courts; Ste. 199, 5505 Connecticut Ave., NW; Washington, DC 20015
301/913-0448, Fax: -5739, firstname.lastname@example.org
The Genetics Adjudication Resource Project (GARP) is funded by the Ethical, Legal, and Social Issues (ELSI) Program of the DOE Human Genome Program to provide foundation education in genetics, molecular biology, and biotechnology for 1000 federal and state judges. The project's overarching objective is to familiarize judges, who have little scientific background, with the concepts, research findings, and vocabulary they are likely to encounter in civil lawsuits and criminal prosecutions. Expected evidence flows from parties' pleadings and from expert witness testimony. ELSI matters flow from the conferences' active, case-based, problem-solving curriculum.
The project's operational objective is to provide judges with tools for exercising their gatekeeping duties for scientific evidence. Those duties include, but are not limited to, determination of the evidence's fitness for presentation to juries.
The conference series was preceded by four preparatory "working conversations" (WCs) intended to perfect a durable, effective, and adaptable educational technology template. One of the WCs was hosted by Lawrence Livermore National Laboratory in November 1996. The first large-scale conference of 106 judges and 40 faculty was held in May 1997 at Airlie House, Airlie, Virginia, for judges of courts located in the greater Washington, D.C., region.
The project has been approved to conduct six conferences in 1997 and 1998. Included are the National Capital, New England, Chicago, and Mountain West regions and two conferences scheduled for June 27-July 3 and August 1-6 at Orleans, Cape Cod. Three additional conferences are on the drawing boards for the Mid-Atlantic region in 1998 and in 1999 for the Southeast region and the California state courts.
GARP also has produced the Handbook for Judges for Cases Involving Genetics, Molecular Biology, and Biotechnology Evidence. Another primer has been produced by EINSHAC within the courts' own publication system. The Judges' Journal, a quarterly published by the American Bar Association, produced a dedicated theme issue in late Summer 1997 entitled "Genetics in the Courtroom." This primer is divided into scientific and adjudication perspectives.
Key to GARP's successful conferences is the recruitment, training, and use of science advisors. Scientists reside with the judges, allowing important informal interaction to make the unfamiliar subject matter clear to lay judges. One scientist is present for every four judicial participants, an effort in which DOE scientists and ELSI personnel have been instrumental. GARP has developed a training program for scientific faculty so differences in communication content and style rooted in the judicial culture can be anticipated and managed. The training strategy is based on the different professional paradigms (mental worlds unique to adjudication and to science) highlighted by the literature and experienced in the 1995 and 1996 WCs.
Science advisors now are being sought for the 1998 and 1999 judicial conferences. Six-hour training seminars will be scheduled conveniently. GARP promises an interesting experience with an avid group of learners whose day-to-day responsibilities can make important contributions to our society's adaptation to advances in human genetics.
American Society of Human Genetics, www.faseb.org/genetics/ashg/ashgmenu.htm
Biological Sciences Curriculum Study Modules, http://www.bscs.org/cp.html
Center for Biomedical Ethics, Stanford University, http://scbe.stanford.edu/
DNA Learning Center, Cold Spring Harbor Laboratory, http://www.dnalc.org/
Electronic Scholarly Publishing, www.esp.org
ELSI in Science, www.lbl.gov/Education/ELSI/ELSI.html
Getting the Word Out on the Human Genome Project: A Course for Physicians http://scbe.stanford.edu/education/
High School Human Genome Program, hshgp.genome.washington.edu
Human Genome Teacher Networking Project, www.kumc.edu/gec
MCET Human Genome Project, phoenix.mcet.edu/humangenome/index.html
Public Broadcasting System, www.pbs.org
The Arc's Human Genome Education Project, TheArc.org/
The Courts and Science On-Line Magazine, http://einshac.org/
The DNA Files, www.dnafiles.org/home.html
The Gene Letter, www.geneletter.com
Your Genes, Your Choices, www.ornl.gov/hgmis/publicat/genechoice/index.shtml
Your World, Our World, www.pa-biotech.org
DOE Human Genome Program General Information www.er.doe.gov/production/ober/HELSRD_top.html
Human Genome Project Information, www.ornl.gov/hgmis
Current and Past ELSI Projects, www.ornl.gov/hgmis/elsi/
Frequently Asked Questions, www.ornl.gov/hgmis/project/
Project History, www.ornl.gov/hgmis/project/timeline.shtml
Publications (Human Genome News, Primer on Molecular Genetics, program reports, and Santa Fe Contractor-Grantee meeting reports), www.ornl.gov/hgmis/publicat/index.shtml
Center for Bioethics, University of Pennsylvania, http://www.med.upenn.edu/bioethic/
National Center for Genomic Resources, www.ncgr.org
A Question of Genes, www.pbs.org/gene
Report of the Task Force on Genetic Testing, http://www.hopkinsmedicine.org/tfgtelsi/
To Know Ourselves, www.ornl.gov/hgmis/publicat/tko
The Human Genome Project (HGP) was an international 13-year effort, 1990 to 2003. Primary goals were to discover the complete set of human genes and make them accessible for further biological study, and determine the complete sequence of DNA bases in the human genome. See Timeline for more HGP history.