DOE Genome Contractor-Grantee Workshop IX
January 27-31, 2002 Oakland, CA
Ethical, Legal, and Social Issues Abstracts
176. Intellectual Property Rights Issue Concerning the Human Genome: A Test of Anticommons Theory and Implications for Public Policy David J. Bjornstad1 and Steven Stewart2
1Oak Ridge National Laboratory, Oak Ridge, Tennessee
Concerns that patenting policies for genetic research may lead to inefficient use of genetic research has come about through a number of circumstances. These circumstances include patent policy, technological changes in gene sequencing, rapid entry of the private sector into gene sequencing research, and the changing relationship between government, the traditional non-profit research sector, and the profit-motivated private sector. The larger project from which the current poster is drawn will deal with all of these subjects. The information presented in this poster reports on one phase of this work, an “experimental” test of the theory of the “anticommons.” Anticommons theory postulates that an overassignment of property rights will lead to an underutilization of a resource, an analogy to the tragedy of the commons in which underassignment of property rights leads overutilization of a common pool resource. Applied to the human genome topic this theory suggests that the patenting of gene fragments will lead to a circumstance in which the information developed through gene research will be underutilized. This poster describes empirical research on this topic and its implications for patent policy.
177. Regulation of Biobanks: Banking Without Checks or Insured Deposits?
Mark A. Rothstein1, Bartha M. Knoppers2, Mary R. Anderlik1, Genevieve Cardinal2, and Mylene Deschenes2
1Institute for Bioethics, Health Policy and Law, University of Louisville
Between the high-tech, abstract science of genomics and the practical, gene-based medicine of the future lies an emerging world of biomedical research involving pharmacogenomics, genetic epidemiology, and numerous other scientific specialties. Unlike genomics, in which a few dozen DNA samples supported a world-wide research enterprise, the next stage of research requires thousands or even millions of biological specimens. There is now a rush to compile huge repositories of biological specimens linked to phenotypic data. The significant questions of law, ethics, and policy raised by biological sample collections are complicated by the emergence of commercial biobrokers, the population-based and international scale of the new specimen banks, and the use of the Internet in recruiting donors. The research team is developing a conceptual framework for understanding and regulating traditional and emerging forms of biobanking.
178. Healthy, Working Individuals’ Perspectives on Ethical, Legal and Social Issues Involved in Complex Genetic Disorders
Teddy D. Warner, Melinda Rogers, Julienne Smrcka, Nashe Garcia, Kate Green Hammond, Cynthia Geppert, and Laura W. Roberts
Department of Psychiatry, University of New Mexico School of Medicine
This pilot project examines healthy working peoples’ perceptions of ethical, legal and social issues concerning complex genetic disorders (e.g., alcoholism, cancer, depression, diabetes). Over the past year, our multidisciplinary team has constructed and pilot-tested (N = 60) a new comprehensive survey instrument (1.5 hours duration; 65 pages; 490 items) to assess a wide range of attitudes and perceptions regarding genetically-related disorders, genetic testing, research and clinical use of genetic information (e.g., confidentiality, disclosure of information, informed consent), concerns about risks of exposure to various agents, influence of various factors in specific work or health-related scenarios, use of genetic information by various organizations, experience with genetic disorders or genetic testing, and other related issues. The quantitative measures from the survey allow comparison of attitudes about personal genetic information gathered for clinical versus research purposes. A 20-minute interview precedes the written survey and gathers qualitative responses to 17 questions (interviews were videotaped with consent to record responses and to enable use in scientific presentations). For this presentation we will characterize the responses of 60 participants, half from Sandia National Laboratories (of the Department of Energy) and half from the University of New Mexico Health Sciences Center (a comprehensive medical center). Preliminary information from this sample will be used to support our proposal next month to DOE to execute a large scale (about N = 900), hypothesis-driven project.
179. GeneTests·GeneClinics: A Primer for Non-Geneticists
Roberta A. Pagon
Department of Pediatrics, University of Washington School of Medicine, Seattle, WA
The recently merged GeneTests·GeneClinics (www.genetests.org or www.geneclinics.org) is a publicly funded medical genetics information resource developed for physicians, other healthcare providers, and researchers, available at no cost to all interested persons. Although GeneTests·GeneClinics was initially developed as a resource for genetics professionals, the vast majority of the 30,000 registered users who access GeneTests·GeneClinics each day are not formally trained in genetics and include numerous healthcare providers, most of whom have had a limited exposure to medical genetics. The purpose of this project is to develop short, concise definitions, illustrations, and vignettes explaining a term or concept that can be viewed in context by GeneTests·GeneClinics users without leaving the text they are reading. The GeneTests· GeneClinics Web site currently has a glossary of over 220 words, which is not displayed in context and can only be accessed by clicking on “Educational Materials” on the Web site navigation bar. As our grant funding had not yet started at the time this abstract was submitted (11/15/01), project staff has not yet been hired and the project is still in preliminary planning stages. In anticipation of a late November - early December start date, we will develop prototype definitions, illustrations, and vignettes to be evaluated by non-geneticists before this meeting in order to obtain feedback from the target audience early in the project. Examples developed to date will be displayed either as a poster format or live demonstration.
180. Science and its Appeals
Backbone Media, 58 Harper Street San Francisco, CA 94131
Science and its Appeals (previously called Truth and Justice) is a one-hour documentary produced by award-winning Backbone Media for national broadcast on PBS. The first of its kind, Science and its Appeals will explore how ordinary individuals poised at the intersection of two of our most powerful institutions - science and the courts - are struggling to make sense of the fundamental questions raised by new genetic, reproductive and life-creating technologies: What is a human being? Who is a parent? Who owns your body? Who has a right to know its secrets?
Science and its Appeals will profile individuals – lay people and lawyers, judges and scientists – as they grapple with questions of new technology and the law in a handful of current – rather than hypothetical – legal cases. It will demonstrate how new technologies create unexpected, unprecedented dilemmas that force us to rethink fundamental ethical, social and legal principles. Through these central “characters,” Science and its Appeals will help articulate more fully and precisely the real (and surprisingly fundamental) questions underlying our visceral reactions to new genetic, reproductive and life-creating technologies.
When people react strongly to the possibility of patenting a part-human animal, creating a child with possibly eight parents, or being tested secretly for genetic disease, they are not always reacting out of fear or ignorance, but rather, they are responding in part to the profound nature of the technological challenge. Who are we as a species and how is that changing? Do advances in biotechnology confuse or clarify what it means to be human, to be a parent, to inhabit a body? How do we balance scientific progress with other values? Are there things that are scientifically possible, medically justifiable and legally allowed, but that might also prove socially objectionable? If so, how will we renegotiate long-held paradigms and belief systems?
Despite the profound impact new life technologies are having on the way we feel in the world, and the role of the courts in defining and mediating that impact, no PBS – or network – series has ever explored the topic beyond a discussion of hypotheticals or the predictable recitation of what might go wrong with new technology. Yet when we worry about transgressing natural boundaries, exercising too much power over the natural world or not being able to protect ourselves or our loved ones from harm, we are engaging not only in philosophical thinking, we are revisiting the very foundations of our laws and social contracts. The compelling and real stories of Science and its Appeals will better articulate this direct relationship between what we feel, the fundamental, philosophical questions embedded in those feelings, and the legal institutions and social relations we have built to honor them.
Cynthia Needham and Kenneth McPherson
ICAN Productions, Ltd., Stowe, VT
The fields of molecular biology, computational and materials engineering, chemistry, and physics are converging along a common path called nanotechnology – a path yielding unprecedented understanding and control over the fundamental building blocks of all physical things, both animate and inanimate.
While the science is powerful and intriguing, it also raises compelling social, legal and ethical issues. ICAN Productions, in association with Oregon Public Broadcasting, Palfreman Film Group (PFG), and the National Association of Biology Teachers, is developing a multi-component project focusing on the field. Through the support of the Department of Energy’s Office of Biological and Environmental Research, ICAN Productions proposes to do three things to further the project’s development. First, we will conduct interactive dialogs with research scientists in the respective nanotechnology disciplines to choose the specific research efforts that will delineate the most important ELSI issues. Second, we will develop similar discourses with senior scientists, ethicists, and legal scholars to explore their views on whether our current frameworks for ethics and justice support decision making within this new scientific enterprise. Third, we will work with all participants to identify stories that will provide a compelling public viewing experience while best illustrating both the science and the ethical, legal, and social issues that we have identified. These core stories will form the structure upon which each component of the project is based.
Work to date has allowed ICAN and PFG to identify several key scientific themes that will likely drive the stories. Some, if not all, of the themes extend the extensive genomic research and its products into a new dimension. Health scientists envision ‘machines’ that will patrol our bodies, searching out and destroying invading microbes or pre-cancerous cells, new abilities to repair damaged genes or cells molecule by molecule, and ultimately the ability to enhance or improve upon an individual’s natural assets. Materials scientists and chemists promise smart materials that will change as their environment changes and materials that will be hundreds of times stronger and lighter than any that now exist. Engineers promise faster and faster computer processors with vastly increased information storage to analyze, design, and control every aspect of the world at the nanoscale, breaking through the restrictions imposed by silicon. And finally, biologists are charging toward the ultimate – the creation of life itself. Each of these themes offers opportunities to probe our present constructs of ethics and social justice.
182. Delivering the Human Genome to the Public
Sara L. Tobin1 and Ann Boughton2
1Program for Genomics, Ethics, and Society, Stanford Center for
Progressive identification of new genes and implications for medical treatment of genetic diseases appear almost daily in public media reports. However, most of the public lacks the genetic sophistication to appreciate these advances or to anticipate the impact that the Human Genome Program will have on their lives. This lack of education may delay their acceptance of new medical options, limit their ability to communicate with medical providers, and lead to uninformed fears of products involving molecular technologies. This project is designed to fill two important functions: first, to provide user-friendly education for the public about genomics and molecular technologies, including the impact, implications, and potential of this field for the treatment of human disease; second, to contribute to the creation of an informed electorate with an appreciation for technological research and its benefits.
On the basis of previous support from the DOE Human Genome Program, we have produced two flexible, user-friendly, interactive multimedia CD-ROMs about the applications of molecular medical genetics. Physicians who use “The New Genetics: Courseware for Physicians” can apply for continuing medical education credits through the Stanford University School of Medicine. The second version, “The New Genetics: Medicine and the Human Genome,” is being used by members of diverse audiences, including a graduate class in the genetics of speech and hearing disorders, internal medicine residents at the Mayo Clinic, and training programs for technical personnel for the biotechnology industry. This current project builds on the content of these two multimedia CDs. However, the content is being adapted for delivery on the Internet and also modified so that members of the general public will find it easy to understand. The emerging website is designed to provide education in four areas: (1) Genetics, including DNA as a molecular blueprint and patterns of inheritance; (2) Recombinant techniques, stressing cloning and analytical tools and techniques applied to medical case studies; (3) Current and future clinical applications, encompassing the human genome project, technical advances, and disease diagnosis and prognosis; and (4) Societal implications, focusing on issues such as privacy and impact on the family. The website that results from this project will be made freely available to the general public and is designed to provide a powerful tool for education about the potential of the Human Genome Program to benefit human health, technological careers, and economic growth.
183. Major Psychiatric Diseases: A Model for Teaching Genetics Professionals about Complex Disorders
Joseph D. McInerney and Holly L. Peay
National Coalition for Health Professional Education in Genetics
The National Coalition for Health Professional Education in Genetics (NCHPEG) is developing an interactive, educational CD-ROM on psychiatric genetics that will be distributed free-of-charge to all active members of the National Society of Genetic Counselors (NSGC), a member organization of NCHPEG, and to all training programs for genetic counselors in the US and abroad. Additional copies will be available by request to all NCHPEG member organizations and to individuals who do genetic counseling.
Joseph D. McInerney is principal investigator for the project. Holly Landrum Peay, a board-certified genetic counselor and member of NSGC, is the project director.
The development process includes continued input from experts in the field of psychiatry, genetics, ethics, and genetic counseling. In November 2000 the project advisory committee determined the initial framework for the CD-ROM content, and in February of 2001 the writing committee wrote the bulk of the CD-ROM materials. During this time we also surveyed NSGC members to determine what educational materials they felt would help them counsel for psychiatric indications, and we have made every effort to include those materials.
During the spring of 2001 we expanded the content developed during the first writing meeting and our CD-ROM development consultant placed the materials on the CD-ROM. This first test (or alpha) version of the CD-ROM was evaluated by our target audiences. We have recently completed testing of the program with approximately 75 practicing counselors in various parts of the country and with students in training programs in the U.S. and abroad. In addition, the program was tested by members of the International Society of Nurses in Genetics (ISONG), a NCHPEG member organization. We compiled and analyzed information from the field test, and presented the information to the advisory committee during the second meeting in November 2001. Based on these data, the advisory committee suggested changes to the CD’s content and structure. These changes will be implemented at the January 2002 meeting of the writing committee.
184. THE AGE OF GENES - The Science of Your Life in the New Genomic Era: A Television Series and Journalism Education Project
Peter Baker1 and Barbara Wold2
1SeeingScience Media Group
Completion of the central endeavor of the Human Genome Project (HGP)—learning the DNA sequence of the entire human genome—heralds the beginning of a new phase of science that promises to touch the lives of all Americans in a way not equaled since the splitting of the atom. However, despite the HGP's overwhelming implications for divers aspects of life, the public finds itself perplexed by the rapid pace and complexity of genomic research and, quite understandably, confused about its ramifications. The vast majority of working journalists, whose job it is to translate this research into language comprehensible to a lay audience, are themselves woefully unprepared for the task. The “Age of Genes” project, based at the California Institute of Technology, and scientifically led by a team of world class genome scientists and biologists, takes a two-pronged approach to this problem. The project consists of: (1) a high-quality, four-part television series for national prime-time broadcast developed by the award-winning production company of Baker & Simon Associates (SeeingScience Media Group), aimed directly at educating a vast public audience on the scientific and social dimensions of cutting edge genomic research; and (2) a series of Seminars and Institutes, and the Web site FACSNET, offered by the Foundation for American Communications (FACS), to help journalists translate cutting edge genomics research into language accessible to the average person through the print and electronic media which they serve. The television series, augmented and supported by the program of journalist education, has the potential to educate millions of Americans about the science and the challenges of the new genomic era.
185. Information Conferences on the Human Genome Project
Kathryn T. Malvern and Issie L. Jenkins
Zeta Phi Beta Sorority, Inc.
Since l997 the Zeta Phi Beta Sorority National Educational Foundation has been involved in bringing to minority communities information on the Human Genome Project and the resulting ethical, legal, and social issues. Through major conferences, and smaller workshops and seminars, the Foundation has been able to reach minority communities throughout the country, to provide information on genetic research developments, to obtain community input and recommendations regarding community concerns, and to help to encourage minority students in careers in science and biotechnology.
The Foundation has presented major conferences in New Orleans, Philadelphia, Atlanta, and Washington, D. C. In addition, it has collaborated in the presentation of smaller workshops and seminars. Participants at the most recent major conferences in Philadelphia in July 2000, in Atlanta in July 200l, and in Washington, D. C. in November, 200l, continue to stress the community needs for information on genetic developments, and for community input.
The Foundation’s presentation/poster will highlight the Foundation’s experiences in getting information out to minority communities, the optimism and concerns that minority communities have, as expressed by conference participants via recommendations, and the various local community outreach efforts that have resulted from the conferences.
The conferences have included participants representing the African-American community, the Hispanic community, the Asian American community, and the Native American community. One of the Foundation’s Goals is to encourage participants to take the information back and present it to their groups and organizations, helping to reach all segments of the community.
Pursuant to community requests resulting from the information conferences, the Foundation has assisted groups to organized other workshops and presentations on the Human Genome Project in their local communities. Ten mini-grants have been provided to help local groups with workshops and presentations. During the past year, the Foundation has collaborated with the Pennsylvania Legislative Black Caucus in organizing a Summit in Pennsylvania on the Human Genome Project, where conference participants made twelve recommendations to the legislators; organized and presented an ELSI workshop at the national IMAGE, Inc. convention, an organization representing Hispanic Americans; provided information at educational forums of community groups and at science and math fairs for students; as well as given university lecture on the implications of the Human Genome Project.
186. Assessing Models of “Public Understanding” in ELSI Outreach Programs
For more than a decade, outreach projects funded under the “Ethical, Legal, and Social Issues” (ELSI) rubric of the Human Genome Project have provided a base for public awareness, learning, and discussion of emerging genome science. Over that same period, new concepts of “public understanding” have emerged, moving from a “deficit” or linear dissemination model of popularization to a contextual model stressing lay knowledge, public engagement, and public participation in science. This project uses the base of ELSI projects to explore the ways that information about a new and emerging area of science that is intertwined with public issues has been used in public settings (including educational ones) to affect public understanding of science. By combining retrospective evaluation with new conceptual models of public understanding, this project moves beyond evaluation of individual projects to examine the overall impact of ELSI projects on public understanding of genome science. This project combines detailed case histories of ELSI outreach projects with a comprehensive review of new concepts in public understanding.
187. Initiatives in Equity
Maria Elena Zavala1,2, Lin Hundt2, Jerry Beat2, and Marina Bobadilla2
1California State University, Northridge
The Society for the Advancement of Chicanos and Native Americans in Science (SACNAS) seeks to increase the participation of minorities in the scientific endeavor. To address the needs of minorities in the sciences, SACNAS provides creative approaches to improving science education and equalizing opportunities in the national scientific work force. SACNAS delivers quality mentoring and professional development through its national conference, summer research programs, and publications. The Society's strength lies in the active involvement of its members, a dedicated board of directors, and a strong multilevel network between federal agencies, professional scientific societies, universities, and the private sector. For 27 years, SACNAS and its partners have succeeded in accomplishing the Society's mission of encouraging Chicano/Latino and Native American students to pursue graduate education and obtain the advanced degrees necessary for research careers and science teaching professions at the highest levels. The primary means of fulfilling the SACNAS mission is its annual conference. The SACNAS National Conference provides a forum for students, faculty and professionals in science and education to share research, and address the unique accomplishments and challenges of minorities in science. In conjunction with efforts from science government agencies, universities, professional societies, and private industry, the national conference that creates a forum to: 1) build networks on a national level among conference participants; 2) mentor undergraduate and graduate students; 3) expose participants to cutting-edge scientific research, current trends and issues; 4) inform participants about summer programs, internships, higher education, and employment; 5) address the professional demands and concerns of minority students and faculty; and, 6) empower K-12 educators to engage minority students in inquiry-based math and science. The SACNAS National Conference is the largest single outreach effort of the year and is the main vehicle by which the society fulfills its vision.
188. Creating and Distributing Your World Materials about Microbial Genomics
Jeff Alan Davidson1, Cathryn Delude2, and Ken Mirvis2
1Biotechnology Institute and BioSciEd
With the Department of Energy’s support the Biotechnology Institute (BI) is developing a set of materials on Microbial Genomics for distribution in April of 2002 that will feature:
Your World, is a magazine of biotechnology applications designed for teachers to use with 7th to 12th grade students. Your World is an eleven-year old program and has met with exceptionally positive reaction from students and teachers and 19 issues of the publication have been published on a wide range of biotechnology topics.
The Your World Microbial Genomics issue will be a colorful sixteen-page material designed for students use and will cover both science concepts and the application of those science concepts in the classroom. The issue will feature an introduction, a science overview article, several applications articles, an experiment that explores the central theme of the issue, and a profile of a scientist active in the field. Other elements include “Think About This” questions, Career Connections that highlight career possibilities, and articles or sidebars that set up discussions among students about ethical issues.
The poster will be designed for both classroom display and to serve as a means of making science teachers aware of the availability of the issue on microbial genomics. The Teacher’s Guide will provide additional background material, teacher resources, science standard connection information, and information on conducting the accompanying experiment. The Student Guide will provide information for the students on the conducting of the experiment including appropriate preparation information, data forms and data analysis recommendations. The accompanying experiment will be designed to allow students to experiment in a meaningful way to explore microbial genomics.
This project addresses middle school and high school biology teachers and the students they teach, and will provide approximately 5,000 to 8,000 sponsored or subscribing teachers with a complete set of classroom teaching materials on microbial genomics. Each subscribing teacher will receive 30 copies of Your World and copies of the supporting materials, and thus approximately 150,000 to 240,000 copies of the Your World issue will be distributed. Each set can be used with multiple classes and can be inventoried for reuse. This project is designed to help teachers introduce microbial genomics to approximately 800,000 students.
The Biotechnology Institute (BI) is a national non-profit entity, based in Washington, D.C., dedicated to education and research about the present and future impact of biotechnology. Its mission is to engage, excite and educate as many people as possible, particularly young people, about biotechnology and its immense potential for solving human health and environmental problems.
189. Modeling The Science and Technology Reference Court (STREC)
Franklin M. Zweig
Einstein Institute for Science, Health and the Courts, 2 Wisconsin Circle, Suite 700, Chevy Chase, Maryland 20815
In the course of genomics education provision to 3,100 judges supported by DOE’s Ethical, Legal and Social Issues Program during the past four years, discussions among judges and scientists have concluded that a new institution is needed to bridge the gap between science and the law as the world adjusts to biotechnologies built upon the Human Genome Map and Sequence. Accordingly, EINSHAC initiates an evaluated model-building effort to design, initiate, test and assess a science and technology reference court (STREC) for high-profile biology and life technology disputes arising from human, mammalian, microbial, environmental and agricultural genomics and related ethical, legal and social issues.
The Science and Technology Reference Court will be simulated in Ottawa, Canada in June 2002 and again in Melbourne Australia, November 2003. These simulations will test the concept with real and hypothetical cases. Partners for these simulations are the Supreme Court of Canada; the Federal Court of Australia; the American Society for Human Genetics; The Society for Neuroscience; and a host of science centers in the United States and across the globe.
A reference court is limited to advisory verdicts, rulings and decisions. It does not seek enforcement of its conclusions. It enables official adjudication entities to review the best, considered judgments of neutral, independent scientific and technological expertise channeled through time-honored methods of judicial review. Legislative and administrative entities may also refer cases or questions.
The STREC promotes active scientific and jurisprudential collaboration at the highest levels, a primary aid to more effective, better-understood, more robustly supported, official systems of criminal and civil justice. At the same time it systematically reduces the disputed issues – safety of genetically modified organisms in a new technology, for example – to assessed parameters of scientific certainty and uncertainty. It thereby may lower the rancor often incident to adversarial proceedings and promote areas of agreement in service to dispute resolution.
Using a variety of techniques, including summary jury trials and made-for-decision risk assessments, the STREC will adjudicate six cases types: (1) safety of genetically modified foods; (2) bioremediation projects using genetically modified bacteria; (3) human experimentation in biological agent attack preparation; (4) liability of professional societies for failure of national legislatures to protect human rights in genetics programs; (5) human cloning; (6) gene therapy for modifying human brain function.
The model project will recruit, train, orient and activate an advisory high court and constituent three judge panels to articulate scientifically respectable, legally supportable advisory opinions. In reaching its opinions, decisions, judgments, verdicts and rulings, both the nine member STREC and the three judge panels will have constant access to science advice. Six, world-recognized, jurists and three global science leaders will comprise the STREC. Senior and retired judges from different nations will comprise the STREC’s reference panels, three-judge forums that examine disputes, issues opinions, and undertake the lion’s share of case management. Reference panels will be coordinated by a STREC administrative officer. The American Bar Association’s Model Canons of Judicial Ethics will otherwise provide guidance for all STREC members and reference panel jurists. A prominent scientist will chair the STREC’s Science and Technology Commission.
STREC’s roots, while respectful and incorporative of science, are historically judicial. They lie in the Congressional Reference jurisdiction of the U. S. Court of Federal Claims, a national court acting to advise Congress since 1856 according to federal statute, a policy court advisory pedigree discussed in the proposal narrative. STREC’s legitimacy also receives support from the advisory powers of the Supreme Courts of eleven States of the United States, detailed in the proposal narrative. These developments indicate an attitude change within the Judicial Branch, recently noted by U.S. Supreme Court Justice Stephen Breyer:
“In this age of science, we must build legal foundations that are sound in science as well as in law. Scientists have offered their help. We in the legal community should accept that offer.” – Hon. S. Breyer Introduction to Reference Manual on Scientific Evidence, second edition, Washington, DC: Federal Judicial Center, Administrative Office of U. S. Courts.
190. Ethical and Legal Issues Arising from Complex Genetic Disorders: The Law’s Assessment of Probabilities
Lori Andrews, Laurie Rosenow, and Valerie Gutmann
Chicago-Kent College of Law
As part of a larger project on the ethics of genetic testing for complex, common diseases, this preliminary study analyzed the way in which courts in cases involving negligence law and discrimination law have addressed genetic testing and genetic disease. The study attempted to predict whether complex genetic diseases will be handled differently than single gene disorders.
Under the American with Disabilities Act (ADA), people who have a record of, are regarded as having, or do have a disability are protected from discrimination in employment and in the provision of health care services. A disability is a condition that interferes with a major life function, such as blindness, paralysis, or coronary artery disease. More controversial are conditions that might make the person less likely to want to reproduce, bringing that person within the protection of the ADA since reproduction has been interpreted by courts to be a major life function. AIDS is such a condition, but so, too, might be some untreatable dominant single gene disorders, such as Huntington’s disease. Courts’ focus in interpreting the ADA has been on the severity of the disorder. Thus the ADA has application for complex multifactorial diseases where the manifestation is severe, such as coronary artery disease.
At the federal level, the Equal Employment Opportunities Commission has interpreted the Americans with Disabilities Act to cover individuals with genetic predispositions to later develop particular diseases. As people begin undergoing genetic testing for complex, common disorders, however, questions may be raised as to just what constitutes a disability under the ADA. For example, whether an alleged genetic predisposition to develop carpal tunnel syndrome should be considered a disability under the ADA is an issue before a federal court.
In the context of negligence, when people seek genetic testing, genetic counseling or other genetic information, health care providers have an obligation to provide it in a high quality way. When patients might benefit from genetic services, physicians have a legal obligation to offer them. Medical malpractice cases have held health care providers liable for not informing patients they were in a high-risk group with respect to certain genetic risk and for not performing genetic tests accurately.
In the negligence context, some courts have only allowed recovery if the disorder at issue was severe, but they have set a different standard for severity than in the ADA context. For example, one court has suggested that blindness would not be a sufficiently severe disability for parents to recover damages if the obstetrician failed to advise them of a genetic test to predict blindness or a laboratory failed to undertake the test accurately.
The rationale for finding physicians liable for negligence is that such liability deters low quality genetic services. However, the vast majority of these cases deal with single gene disorders such as Tay-Sachs disease or chromosomal abnormalities such as Down syndrome. The courts in the cases involving malpractice liability in the genetic testing arena have assumed that the test not offered or undertaken incorrectly was highly predictive.
The harm in the case was in not providing the patient with highly predictive genetic information. In one case, for example, a court refused to hold a physician liable for failing to offer a genetic test when the test would only have predicted 20% of the instances of the disorder. The court held, “A mere 20 percent chance does not establish a ‘reasonably probable causal connection’ between defendants’ negligent failure to provide the [genetic] test and plaintiffs’ injuries. A less than 50-50 possibility that defendants’ omission caused the harm does not meet the requisite reasonable medical probability test of proximate cause.” Yet, when dealing with complex, common disorders, a particular genetic test may not predict more than 20% of the cases. How then will low quality genetic services be deterred in the arena of complex, common disorders if such precedents are followed and courts refuse to find liability for failure to offer a test or failure to perform it correctly? Perhaps a new policy needs to be instituted in the negligence area that is closer to the ADA approach that focuses on the nature of the disorder rather than the nature of the genetic test for the disorder.
191. Genetic Materials: Resources, Rights, or Sacred Objects
Mervyn L. Tano
International Institute for Indigenous Resource Management
On June 4 and 5, 2001, the International Institute for Indigenous Resource Management convened a Roundtable on Genetic Materials: Resources, Rights, or Sacred Objects—Alternatives to the Intellectual Property Regime for Protecting Indigenous Genetic Materials in Denver, Colorado. The primary purpose of the Roundtable was to discuss alternative ways the genetic materials of indigenous peoples can be protected. The Roundtable participants were all well aware of the limitations of the current intellectual property regime so the major part of the two-day meeting was spent identifying alternative ways of characterizing human genetic materials and discussing alternative theories by which these genetic materials could be controlled by indigenous peoples, and the legal, anthropological and other research required to support these alternative theories. The poster will present the results of the roundtable.
192. The DNA Patent Database
Robert M. Cook-Deegan and LeRoy Walters
Kennedy Institute of Ethics, Georgetown University
Using an algorithm developed by James Martinell at the United States Patent and Trademark Office (USPTO), the coauthors, in collaboration with Stephen McCormack, have developed a method for tracking and reporting the number of human-DNA-based patents issued by USPTO. A database containing the numbers and texts of relevant patents is available at www.genomic.org. With the aid of this database it is possible to identify the organizations holding the largest numbers of DNA-based patents (the U.S. Government, the University of California, and Incyte are the top three organizations), as well as to follow trends in the numbers of patents issued (in 1996: 1,425; in 1997: 2,312; in 1998: 3,354; and in 1999: 4,250. Analyses based on this database are available at www. stanford.edu/class/siw198q/websites/genomics. The presentation will update the information on DNA-based patents through the end of the year 2001 and identify major trends and issues in this important field.
193. Bioinformatics and the Human Genome Project
Mark Bloom and Sherry Herron
Biological Sciences Curriculum Study
Bioinformatics and the Human Genome Project is a curriculum module designed for high school biology classes. It specifically addresses how bioinformatics uses data generated by the Human Genome Project to help us understand how genes contribute to our health and well-being. Developed by BSCS, a nonprofit curriculum development group, the module uses an inquiry-based approach that also includes an analysis of related ELSI issues. The curriculum is the fifth genome module produced by BSCS and will be provided to teachers at no cost.
Students using the module should be familiar with Mendelian genetics, the chromosome theory of inheritance, the chemical nature of the gene (including the structure of DNA), and the central dogma, which states that genetic information resides in DNA, passes through an RNA intermediate, and is ultimately expressed as protein.
Designed for five periods of classroom instruction, the module includes extensive teacher background material, five student lessons, and an articulated Web site. The student lessons are organized into a conceptual whole that introduces basic techniques of bioinformatics and considers some of the ELSI issues related to informed consent and access to genetic data.
The first lesson creates an overall scenario for the module in which students work as employees of a bioinformatics company concerned with applying genomic data to the prevention, diagnosis, and treatment of cancer. Students first assemble, by hand, short DNA sequences. Small sequence differences illustrate genetic variation in the population and introduce the possibility of sequencing errors. Next, students look for open reading frames to see if their sequence may be part of a gene. Students then use the Web site to perform a BLAST search, which reveals the sequence to be part of the gene associated with ataxia telangiectasia (A-T). At this point, students change the course of their research from cancer to A-T. The final lesson deals with ethical issues related to informed consent and genetic privacy brought about by the new emphasis on A-T.
203. Biomolecules, Bioinformation and Bioinformatics: the Changing Role of Intellectual Property
Rebecca S. Eisenberg
University of Michigan Law School
Biomolecules, bioinformation and bioinformatics: the changing role of intellectual
property Patents have played an important role in motivating investment in genetics
and genomics research, but that role is changing. For the first generation of
biotechnology products, the most important patents covered tangible DNA molecules
encoding therapeutic proteins. With the advent of high-throughput DNA sequencing,
new intellectual property strategies have sought to capture the value of genomic
information and algorithms for information analysis. These strategies are constrained
by vestigial remnants of previous limitations on patent protection for information
technology as well as by the requirement for disclosing a patentable utility.
Moreover, efforts to leverage patents on information and algorithms into a share
of profits on future products through the terms of license agreements have met
resistance from drug-developing firms that are reluctant to agree to pay reach-through
royalties on future products developed in part through access to a patented
research platform. An alternative strategy is "reach-through claiming,"
or obtaining patent claims that dominate future inventions, such as patents
that cover ligands that bind a disclosed receptor. The principal obstacles to
obtaining such claims are the utility and disclosure requirements of patent
204. Confidentiality Concerns Raised by DNA-Based Tests
Jeroo S. Kotval1, Carol M. DeLaMarter1, John Cody2, Kathy Dalton1, Anthony Wilmarth3
1School of Public Health, University at Albany, 2Albany Medical Center, 3Albany Law School
Confidentiality in health care has traditionally served several functions. These include: protection of personal privacy, protection from discrimination and stigmatization by third parties, safeguarding autonomy so that personal health care decisions may be made without undue pressure or influence from third parties, and above all, trust in the provider. Concerns are raised about protection of this constellation of values with the advent of market-driven managed care as a major institution delivering health care, the increasing computerization of the medical record, and the availability of genetic tests capable of predicting an individual's future health care costs. This confluence poses concerns about the possibility that market-driven managed care organizations will use genetic information to "cherry pick" healthy clients and disenfranchise high-risk patients. This creates the problem of "institutional double-agency" where an institution with incentives to save costs is also charged with providing quality health care. We have conducted an empirical investigation of managed care organization to assess the way in which they manage and use confidential health data. Our findings indicate that managed care organizations functioning under the umbrella of the Health Insurance Portability and Accountability Act (HIPAA) coupled with good state laws can serve to protect confidentiality and some of the values that it serves. For example, consumers can rest easy about their confidential medical information falling into the hands of third parties without their consent and hence of discrimination and stigmatization based on this information. However, the internal use of this data to develop institutional policies such as price and content of the benefit packages remains a concern and HIPAA also does not protect from discrimination in the individual insurance market. Further, implementation of these confidentiality policies themselves can be onerous and costly. Coupled with the cost of genetic technologies themselves, health care costs are likely to go up. Given the fact that we have a health care system where the majority receive health insurance through their employers and that employers are not under any obligation to provide this benefit this could lead to some employers dropping health care coverage for their employees or resorting to inventions such as "defined contribution" where employees are given a lump sum to purchase their own insurance on the individual insurance market. We conclude that given the structural incentives in the present health care system, focusing on the protection of confidentiality, while a worthy aim in itself, is likely to result in market disruptions which result in the very harms that confidentiality has traditionally protected. We may, therefore, be missing the forest for the trees.
218. Science Education on the Internet: Conferences for Developers of Online Curricula
Jennifer S. Logan and Louisa A. Stark
Genetic Science Learning Center, University of Utah, 15 North 2030 East, Room 2160, Salt Lake City, Utah 84112-5330
The Genetic Science Learning Center is an established outreach education program located in the midst of genome, medical genetics and classical genetics research at the University of Utah. The Center's primary mission is to help teachers and students in grades K-12 understand how genetics affects their lives and society.
To fulfill this mission, the Center focuses on three program areas. First, we provide information and educational materials to teachers and students, as well as the general public, through our website (http://gslc.genetics.utah.edu). Second, we conduct professional development courses and workshops to update teachers' knowledge, involve them in website curriculum development and train them in using Center-developed educational materials. Third, we conduct science enrichment programs for precollege students who are interested in learning more about genetics and careers in bioscience research. This poster will address the first program area, development of Internet-based science education materials.
Internet-based science education is a rapidly growing field, as both educators and students are looking more to website resources for accurate information and ideas for the classroom. The Center is committed to working with others in the field to define and follow best practices for development and evaluation of Internet-based science education programs. To this end, we have hosted two national conferences for science education website developers, with major sponsorship from the U.S. Department of Energy. The most recent conference, Learning Strategies for Science Education Websites, was held in November 2000. This conference brought website developers from 32 diverse programs together with education policy makers to exchange expertise, ideas and educational methodologies.
Key issues raised at the conference included: (1) methods for evaluating the effectiveness of Internet science programs; (2) combining Internet technology with education theory to create website materials that are both effective and practical for classroom use; (3) business models and strategies for program funding; and (4) roles that scientists can play in science education. This poster will highlight exemplary program models, ideas and practices that emerged from the conference, as well as issues to be explored in more depth at future conferences.
201. HGMIS: Making Genome Science and Implications Accessible
Anne E. Adamson, Jennifer L. Bownas, Denise K. Casey, Sherry A. Estes, Sheryl A. Martin, Marissa D. Mills, Judy M. Wyrick, Laura N. Yust, and Betty K. Mansfield
Life Sciences Division; Oak Ridge National Laboratory; 1060 Commerce Park, MS 6480; Oak Ridge, TN 37830
Working with scientific teams to communicate BER’s programs to the scientific community and the public to help the Department of Energy fulfill its broad missions in energy, environmental remediation, and the protection of human health.
The multidisciplinary Human Genome Project (HGP) has revolutionized life sciences research and applications so profoundly that this century has been dubbed the “biology century.” Applications of knowledge and technologies derived from the genomics era that began in the late 20th century will affect almost everyone. Entirely new approaches are being implemented to the practice of medicine and agriculture and to biological research, including the new DOE program Genomes to Life. For an unprecedented understanding of the inner workings of whole biological systems, genetic data will provide the foundation upon which research from many biological subdisciplines will be layered.
Since 1989 the Human Genome Management Information System (HGMIS) has been producing and distributing information about the HGP and related science to (1) facilitate research progress and (2) increase public understanding and the accessibility of genome science and its societal implications so that more-informed personal and public policy decisions can be made. Democratizing access to genetic science should help maximize the benefits while protecting against misuse of the data.
HGMIS products include the technical newsletter Human Genome News, progress reports, fact sheets, invited articles in peer-reviewed publications, posters, and primers. Using knowledge-management experience gained in this work and in presentations, exhibitions, and judicial and minority meetings, HGMIS initiated and is continually developing and expanding a suite of Web sites for a variety of audiences. Because genomics and the life sciences are becoming so pervasive in all sectors of society, HGMIS seeks to make information accessible to nontechnical audiences as well as to scientists, social scientists, and medical and legal practitioners; these professionals, particularly, need an understanding of genetics to enhance their work and allow them to communicate across disciplines. Containing a unique compilation of resources not found in any discipline-specific publication, Human Genome News, for example, is distributed to some 20,000 print subscribers and many more via the Web. Each month, more than 400 information packages are mailed out and numerous e-mail and phone queries are answered directly.
Our suite of Web sites, comprising the Human Genome Project Information (HGPI), Microbial Genome Program, Genomes to Life, and CERN Virtual Library on Genetics, now supports some 275,000 unique user sessions and 900,000 text-file and 8.5 million total-file transfers each month. The sites contain more than 4200 files, some 3500 of which are text files. The average length of time per visit is 12.5 minutes. About 8000 other sites link to HGPI and its individual pages. Although these DOE-sponsored Web pages are presented from the genomics research perspective, they extend well beyond the project's primary goals into the technological and societal ramifications of genomics research. They are important resources for nearly all major news and science news outlets carrying stories on genomics, including CNN, MSNBC, ABC, CBS, Yahoo, Wired, Nature, and Science.
HGMIS Web pages are updated daily, entirely new pages are added several times each year, and all sites receive a major overhaul at least annually. HGMIS continually incorporates feedback from Web users into the strategy for the sites' ongoing development. Main priorities are to meet user needs for accurate, understandable, and easy-to-locate information relevant to genomics and related science (including new DOE programs) and their societal implications.
HGMIS publications and Web pages have won numerous endorsements from such sites as Schoolsnet.com, BigChalk.com, KidsHealth.org, CyberU.com, sciLINKS.org, Geniusfind.com, Hardin MD Clean Bill of Health, ISI Current Web Contents, and Awesome Library. Awards include First Place in Online Communications in the 2001 regional and international competitions sponsored by the Society for Technical Communication. The DOE Primer on Molecular Genetics was voted one of Scientific American’s top 50 Web sites for 2001, and Science magazine’s Web site named several HGMIS Web pages as “possibly the best single resource for those new to genetics and genomics.”
HGMIS has assisted numerous organizations and is actively collaborating with others, including Qiagen, Inc.; the Journal for Minority Medical Students; EurekAlert!; the American Museum of Natural History; and the Zeta Phi Beta Sorority, Inc.
Constructive comments are appreciated.
This work is sponsored at Oak Ridge National Laboratory by the Office of Biological and Environmental Research, U.S. Department of Energy, under contract No. DE-AC05-00OR22725 with UT-Battelle LLC.
The online presentation of this publication is a special feature of the Human Genome Project Information Web site.