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U.S. Department of Energy Human Genome Program 
Projects in Ethical, Legal, and Social Issues

published 1997

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," 1997.

 


The Human Genome: Science and the Social Consequences; Interactive Exhibits and Programs on Genetics and the Human Genome

Charles C. Carlson
The Exploratorium; San Francisco, CA 94123
415/561-0319, Fax: -0307; charliec@exploratorium.edu

From April through September 1995, the Exploratorium mounted a special exhibition called Diving into the Gene Pool consisting of 26 interactive exhibits developed over the course of three years. The exhibits introduce the science of genetics and increase public awareness of the Human Genome Project and its implications for society. Founded in the success of exhibits developed for the 1992 genetics and biotechnology symposium "Winding Your Way Through DNA" (co-hosted with the University of California, San Francisco), the 1995 exhibition aimed to create an engaging and accessible presentation of specific information about genetic science and our understanding of the structure and function of the human genome, genetic technology, and ethical issues surrounding current genetic science.
In addition to creating a unique collection of exhibits, the project developed a range of supplemental public programming to provide public forum for discussion and interaction about genetics and bioethics. A lecture series entitled "Bioethics and the Human Genome Project," featured such key thinkers as Mary Claire King, Leroy Hood, David Martin, Troy Duster, Michael Yesley, William Atchley, and Joan Hamilton (among others). A weekend event program focused on biodiversity in animal and plant life with events such as "Seedy Science," "Blooming Genes," and "Dog Diversity." A Biotech Weekend offered access to new technologies through demonstrations by local biotech firms and genetic counselors. And a specially-commissioned theatre piece, "Dog Tails," provided a instructive and comic look for kids into the foundations of genetics and issues of diversity.

In the 5-month exhibition period, approximately 300,000 visitors had the opportunity to visit the exhibition, and well over 5,000 participated in the special programming. Following the exhibition's close, the new exhibits will become a permanent part of the Exploratorium's collection of over 650 interactive exhibits.

Additional funding for 1995-96 will support formal outside evaluation of the effectiveness of the exhibits, and support exhibit remediation based on the evaluation findings. This activity will both strengthen the Exploratorium's permanent collection of genetics exhibits and help to develop a feasibility study for a travelling version of the genetics exhibition for other museums around the country and the world.

DOE Grant No. DE-FG03-93ER61583.

 


Documentary Series for Public Broadcasting

Graham Chedd and Noel Schwerin
Chedd-Angier Production Company; Watertown, MA 02172
617/926-8300, Fax: -2710

Designed as a 4-hour documentary series for Public Broadcasting, Genetics in Society (working title) will explore the ethical, legal, and social implications of genetic technology. Currently funded and in production for a 90-minute special (Testing Family Ties), the first program profiles several individuals and families as they confront genetic tests and the information they generate. One high-risk cancer family struggles to make sense of their genetic legacy as it debates prophylactic surgery and whether or not to test for BRCA1 and BRCA2. In a family without that family risk, news of the Ashkenazi BRCA1 finding pushes an anxious Jewish woman to demand testing for herself and her young daughter. In another, a woman chooses to carry to term her prenatally diagnosed Cystic Fibrosis twins, despite social and personal pressures. In a third, a scientist researching the so-called "obesity gene" at a biotech company debates the proper "marketing" of his research and confronts the larger questions it raises about what should be considered "normal" and what constitutes therapy vs enhancement.

Testing Family Ties will explore not only what genetic technology does--in testing, drug development, and potential therapy--but what it means to our sense of self, family, and future and to our concepts of health and normality.

Depending on outstanding funding requests, Genetics in Society will be broadcast in the Fall of 1996 or the Winter of 1997 on PBS. Noel Schwerin is Producer/Director. Graham Chedd is Executive Producer.

DOE Grant No. DE-FG06-95ER61995.

 


Human Genome Teacher Networking Project

Debra L. Collins and R. Neil Schimke
Genetics Education Center; Division of Endocrinology and Genetics; University of Kansas Medical Center; Kansas City, KS 66160-7318
913/588-6043, Fax: -4060, collins@ukanvm.cc.ukans.edu
http://www.kumc.edu/gec

This project links over 150 middle and secondary teachers from throughout the United States with genetic and public policy professionals, as well as families who are knowledgeable about the ethical, legal, and social implications (ELSI) of the Human Genome Project. Teachers network with peers and professionals, and acquire new sources of information during four phases: 1) the first one-week summer workshop to update teachers on human genetics concepts and new sources for classroom curricula including online resources; 2) classroom use of new materials and information; 3) the second one-week summer workshop where teachers return to exchange successful teaching ideas and plan peer teaching sessions and mentor networking; 4) dissemination of genetic information through in-services and workshops for colleagues; and collaboration with genetic professional participating in our Mentor Network.

The applications of Human Genome Project technology are emphasized. Individuals who have contact and experience with patients, including clinical geneticists, genetic counselors, attorneys, laboratories geneticists and families, take part in didactic sessions with teachers. Throughout the workshop, family panels provide an opportunity for participants to compare their textbook-based knowledge of genetic conditions with the personal experiences of families who discuss their condition, including: diagnosis, treatment, genetic risk, decisions, insurance, employment, family planning, and confidentiality.

Because of this project, teachers feel more prepared and confident teaching about human genetics, the Human Genome Project, and ELSI topics. The teachers are effective in disseminating knowledge of genetics to their students who show a significant increase in human genome knowledge compared to students whose teachers have not participated in this project.

Teacher dissemination activities extend the project beyond participation at summer workshops. To date, 55 workshop participants have completed all four project phases by organizing more than 200 local, regional, and national teacher education programs to disseminate knowledge and resources. More than 1500 colleagues and the general public have participated in teacher workshops, and over 56,000 students have been reached through project participants and their peers.

The project participants organize interdisciplinary peer teaching sessions including bioethical decision making sessions combining debate and biology classes; sessions for social studies teachers; human genetics and multi-cultural collaborations; cooperative learning activities; and curricular development sessions. Students were involved in sessions on ethics, politics, economics and law. Teachers organize bioethics curriculum writing sessions, laboratory activities using electrophoresis as well as other biotechnology, and sessions on genetic databases.

A World Wide Web home page for Genetics Education assists teachers in remaining current on genetic information and helps them find answers to student inquiries. The home page has links to numerous genome sites, sources of information on genetic conditions, networking opportunities with other genetics education programs, teaching resources, lesson plan ideas, and the Mentor Network of genetic professionals and a network of family support groups willing to work with teachers and their students.

DOE Grant No. DE-FG02-92ER61392.

 


Human Genome Education Program

Lane Conn
Human Genome Education Program; Stanford Human
Genome Center; Palo Alto, CA 94304
415/812-2003, Fax: -1916, lconn@toolik.stanford.edu

The Human Genome Education Program (HGEP) operates within the Stanford Human Genome Center. It is a collaborative effort among HGEP staff, Genome Center scientists, collaborating staff from other education programs, experienced high school teachers, and an Advisory Panel in the fields of science, education, social science, assessment, and ethics.

The Human Genome Project will have a profound impact on society with its applications in testing for and improving treatment of genetic disease and the many uses of DNA profiling. The goal of HGEP is to help prepare high school students and community members to be able to make educated decisions on the personal, ethical, social and policy questions raised by the application of genome information and technology in their lives.

The primary objectives for HGEP are to (1) develop a human genome curriculum for high school science and (2) education outreach to schools and community groups in the San Francisco Bay Area. To achieve Objective 1, the HGEP is working to develop, field test, and prepare for national dissemination a two laboratory-based curriculum units for high school students. Unit 1, "Dealing With Genetic Disorders," explores the variety of treatment options potentially available for a genetic disorder, including gene therapy. Unit 2, "DNA Snapshots, Peeking at Your DNA," explores human relatedness through examining the student's own DNA polymorphisms using PCR.

Each unit is centered around a societal or ethical problem raised by these important applications of genome information and technology. Students use modeling exercises and inquiry laboratory experiments to learn about the science behind a given application. Students then combine the science they have learned with other relevant information to choose a solution to the societal/ethical problem posed in the unit. As a culminating activity, the students work in groups to present and defend their solution.

To achieve Objective 2, the HGEP provides Genome Center tours for teacher, student and community groups that involve pre-tour lectures; tour exploration of genome mapping, sequencing and informatics; and post-tour lecture and discussion on genome applications, and their social and ethical implications. Also, the education program continues to work to establish and sustain local science education partnerships among schools, industry, universities and national laboratories.

DOE Grant No. DE-FG03-96ER62161.

 


Your World/Our World-Biotechnology & You: Special Issue on the Human Genome Project

Jeff Davidson and Laurence Weinberger
Pennsylvania Biotechnology Association; State College, PA 16801
814/238-4080, Fax: -4081, 73150.1623@compuserve.com

Your World/Our World is a biotechnology science magazine published semi-annually by the non-profit Pennsylvania Biotechnology Association (PBA) describing for seventh to tenth grade students the excitement and achievements of contemporary biotechnology. This is the only continuing source of biotechnology education specifically directed to this age group - an age at which students too frequently are turned off from science. The special Spring 1996 issue will be devoted to the presentation of the science behind the HGP, the HGP itself, and the ethical, legal, and social issues generated by the project. The strong emphasis on attractive graphic presentation and age appropriate text that have been the hallmark of the earlier issues, which have been highly acclaimed and well received by the educational, scientific, and business community, will be continued.

PBA believes that increased educational opportunities to learn about biotechnology are most effective if presented at the seventh to tenth grade levels for the following reasons:

  • Full semester life science and biology classes often occur for the first time in these grades;
  • Across the nation, textbooks are typically 10 to 14 years old, and even the most recent textbooks are quickly dated by the rapid development in the biological sciences;
  • Curricula at this level are more flexible than high school curricula, allowing the addition of information about exciting biological developments; and
  • Science at this level is generally not elective, and, therefore, a very comprehensive student population is addressed rather than the more selective populations available later in the educational program.

In creating Your World/Our World, the PBA defined the following educational goals to guide the development of the magazine:

  • Contribute to general science literacy and an educated electorate;
  • Contribute to biological and technological literacy; and
  • Motivate students to pursue additional science study and careers in science, particularly among women and minority populations.

PBA recognizes that it has been a point of pride that biotechnologists have been uniquely concerned with the impact of their technology on society and have been the first to raise and encourage responsible public debate without being forced to do so by others. To do less now for the children would be a breach of this responsible history. Accordingly, this special HGP issue will address the ethical, legal, and social issues raised by the new genomic technologies. Special ethics advisors have been recruited to aid in the development of these aspects.

A complimentary copy of the special issue and its teachers' guide will be mailed to every public and private school seventh to tenth grade science teacher (approximately 40,000) in the United States. A cover announcement will explain the origin and development of the magazine and of the special edition. Teachers will be invited to purchase full classroom packets (30 copies & teacher's guide) from the PBA, but, if they are not able to afford the packets, they will be asked to respond by postcard indicating their interest. The cost of the packets will probably be in the $20 range. The PBA is actively seeking additional support so that the issue may be distributed for free or at a reduced cost. In addition, parts of the special issue will be available over the Internet via a World Wide Web Page.

PBA believes this is a unique opportunity to educate America's youth about the HGP and insure that accurate non-sensational information will be made available to our country's children.

DOE Grant No. DE-FG02-95ER62107.

 


The Human Genome Project and Mental Retardation: An Educational Program

Sharon Davis
Department of Research and Program Services; The Arc
of the United States; Arlington, TX 76010
817/261-6003, Fax: /277-3491, sdavis@metronet.com
http://TheArc.org

The Arc of the United States, a national organization on mental retardation, with 140,000 members and more than 1000 affiliated chapters proposes to educate its general membership and volunteer leaders about the Human Genome Project as it relates to mental retardation. A large number of identified causes of mental retardation are genetic, and many family members of The Arc deal with issues related to a genetic condition on a daily basis. We believe it is critical for our members and leaders to be educated about the scientific and ethical, legal and social aspects of the HGP, so that the association can evaluate and discuss the issues and develop positions based on adequate knowledge.

The major objectives of the proposed three-year project are to develop and disseminate educational materials for members/leaders of The Arc to inform them about the Human Genome Project and mental retardation and to conduct training on the scientific and ethical, legal and social aspects of the Human Genome Project and mental retardation using The Arc's existing training vehicles.

The Arc will develop and disseminate educational materials oriented toward families and conduct training at its national and state conventions, local chapter meetings and at board of director's meetings. The American Association of University Affiliated Programs for Persons with Developmental Disabilities (AAUAP) will assist with the project by providing needed expertise. The AAUAP membership includes university faculty who are experts on the genetic causes of mental retardation and on related ethical, legal and social issues. An advisory panel of university scientists and leaders of The Arc will guide the project.

DOE Grant No. DE-FG03-96ER62162.

 


Pathways to Genetic Screening: Molecular Genetics Meets the High-Risk Family

Troy Duster and Diane Beeson1
Institute for the Study of Social Change; University of California; Berkeley, CA 94705
510/642-0813, Fax: /8674, nitrogn@violet.berkeley.edu
1Department of Sociology; California State University; Hayward, CA 94542

The proliferation of genetic screening and testing is requiring increasing numbers of Americans to integrate genetic knowledge and interventions into their family life and personal experience. This study examines the social processes that occur as families at risk for two of the most common autosomal recessive diseases, sickle cell disease (SC) and cystic fibrosis (CF), encounter genetic testing. Since each of these diseases is found primarily in a different ethnic/racial group (CF in European Americans and SC is African Americans), this research will clarify the role of culture in integrating genetic testing into family life and reproductive planning. A third type of genetic disorder, the thalassemias, has recently been added to our sample in order to extend our comparative frame to include other ethnic and racial groups. In California, the thalassemias primarily affect Southeast Asian immigrants, although another risk group is from the Mediterranean region. Thalassemias, like cystic fibrosis and sickle cell disease, have a similar pattern of inheritance and raise similarly serious bio-medical challenges and issues of information management.

Data are drawn from interviews with members of families in which a gene for CF, SC or thalassemia has been identified. Data collection consists primarily of focused interviews with approximately 400 individuals from families in which at least one member has been identified as having a genetic disorder (or trait). In the most recent phase of the research, we are conducting focus groups selected to achieve stratified homogeneity around key social dimensions such as gender and relationship to disease. This is clarifying the social processes that facilitate and inhibit genetic testing.

We are currently assessing the concerns expressed by respondents about the potential uses of genetic information. We find strong patterns of concern, often based on personal experience, that genetic information may be used in ways that family members perceive as dangerous and/or discriminatory. First among these concerns is fear of losing access to health care. Additional concerns include fear of genetic discrimination in employment and other types of insurance, particularly life insurance. Similar patterns of concern exist among members of each ethnic group, and are frequently the focus of attention among family members, but take somewhat different form within each cultural group. These concerns constitute a growing obstacle to widespread use of genetic testing.

DOE Grant No. DE-FG03-92ER61393.

 


Intellectual Property Issues in Genomics

Rebecca S. Eisenberg
University of Michigan Law School; Ann Arbor, MI 48109
313/763-1372, Fax: -9375, rse@umich.edu

Intellectual property issues have been uncommonly salient in the recent history of advances in genomics. Beginning with the filing of patent applications by NIH on the first batch of expressed sequence tags (ESTs) from the laboratory of Dr. Craig Venter, each new development has been met with speculation about its strategic significance from an intellectual property perspective. Are ESTs of unknown function patentable, or is further work necessary before they satisfy patent law standards? Will patents on such fragments promote commercial investment in product development, or will they interfere with scientific communication and collaboration and retard the overall research effort? Without patent rights, how may the owners of private cDNA sequence databases earn a return on their investment while still permitting other investigators to obtain access to the information on reasonable terms? What are the rights of those who contribute resources such as cDNA libraries that are used to create the databases, and of those who identify sequences of interest out of the morass of information in the databases by formulating appropriate queries? Will the disclosure of ESTs in the public domain preclude patenting of subsequently characterized full-length genes and gene products? And why would a commercial firm invest its own resources in generating an EST database for the public domain?

Two factors have contributed to the fascination with intellectual property in this setting. First is a perception that some pioneers in genomics have sought to claim intellectual property rights that reach beyond their actual achievements to cover future discoveries yet to be made by others. For example, the controversial NIH patent applications claimed rights not only in the ESTs that were actually set forth in the specifications, but also in the full-length cDNAs that might be obtained by using the ESTs as probes, as well as in other, undisclosed fragments of those genes. More recently, private owners of cDNA sequence databases have set as a condition for access agreement to offer the database owners licenses to any resulting intellectual property. These efforts to claim rights to the future discoveries of others raise issues about the fairness and efficiency of the law in allocating rewards and incentives along the path of cumulative innovation.

Second is the counterintuitive alignment of interests in the debate. It was a public institution, NIH, that initially favored patenting discoveries that some representatives of industry thought should remain unpatented, and it was a major pharmaceutical firm, Merck & Co., that ultimately took upon itself the quasi-governmental function of sponsoring a university-based effort to place comparable information in the public domain. These topsy-turvy positions in the public and private sectors raise intriguing questions about the proper roles of government and industry in genomics research, and about who stands to benefit (and who stands to lose) from the private appropriation of genomic information.

DOE Grant No. DE-FG02-94ER61792.

 


AAAS Congressional Fellowship Program

Stephen Goodman
The American Society of Human Genetics; Bethesda, MD 20814-3998
301/571-1825, Fax: /530-7079, society@genetics.faseb.org

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 is working in the office of Senator Wellstone, Democrat from Minnesota, and devoting most of his time to studying and commenting on health-care and science issues.

DOE Grant No. DE-FG02-95ER61974.

 


A Hispanic Educational Program for Scientific, Ethical, Legal, and Social Aspects of the Human Genome Project

Margaret C. Jefferson and Mary Ann Sesma1
Department of Biology and Microbiology; California State University; Los Angeles CA 90032
213/343-2059, Fax: -2095, mjeffer@flytrap.calstatela.edu
1Los Angeles Unified School District

The primary objectives of this grant are to develop, implement, and distribute culturally competent, linguistically appropriate, and relevant curriculum that leads to Hispanic student and family interactions regarding the science, ethical, legal, and social issues of the Human Genome Project. By opening up channels of familial 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 parents and teachers. In the Los Angeles Unified School District alone, over 65% of the approximately 850,000 student enrollment are bilingual Hispanics. The 1990 census data revealed that the U.S.A. had a total population of 248,709,873, of which 22,354,059 were Hispanics, and thus, there is a need for materials to be disseminated throughout the U.S.A. that are relevant and understandable to this population.

Student curriculum consists of BSCS HGP-ELSI curriculum available in both English and Spanish; supplemental lesson plans developed and utilized by high school teachers in predominantly Hispanic classrooms that will be available via the World Wide Web; student-developed surveys that ascertain knowledge and perceptions of genetics and HGP-ELSI in Hispanic and other ethnic communities in the greater Los Angeles area; the University of Washington High School Human Genome Program exercises on DNA synthesis and sequencing; and career ladders and opportunities in genetics. The supplemental lesson plans are focused on four major units: the Cell; Mendelian Genetics and its Extensions; Molecular Genetics; and the Human Genome Project and ELSI. The concise concepts underlying each unit are being utilized in two ways: (a) first, the student activities emphasize logical, problem-solving exercises; tools or technologies applicable to that concept; when and where appropriate, a focus on the Hispanic population; and an understanding of the problems and compassion for the families associated with learning of genetic diseases. (b) second, the concepts serve as the springboard for the topics that the students include in science newsletters to their parents. In addition to on-campus activities, we intend to arrange field trips and/or classroom demonstrations of genetic and molecular biology techniques by scientists and other experts. The speakers would also be asked to discuss career opportunities and the educational requirements needed to enter the specific careers presented.

The parent curriculum consists of two major activities. First the student-parent newsletter is designed to drawn the parents into the curriculum. Students write newsletters on a biweekly basis. Each newsletter relates to a student curriculum subunit and the specific subunit concepts. English, Spanish, social science as well as biology and chemistry teachers assist the students in its production. The other major activity that involves the parents are the parent focus groups. Parents from each participating school are invited to monthly focus groups at their specific campus. The focus groups discuss issues related to genetics and health, legal and social issues as well as science issues that stem from the student newsletters. The discussions are in both English and Spanish with translators available. Links with other programs have been established.

DOE Grant No. DE-FG03-94ER61797.

 


Implications of the Geneticization of Health Care for Primary Care Practitioners

Mary B. Mahowald, John Lantos, Mira Lessick, Robert Moss, Lainie Friedman Ross, Greg Sachs, and Marion Verp
Department of Obstetrics and Gynecology and MacLean Center for Clinical Medical Ethics; University of Chicago; Chicago, IL 60637
312/702-9300, Fax: -0840, mm46@midway.uchicago.edu
http://ccme-mac4.bsd.uchicago.edu/CCMEHomePage.html

"Geneticization" refers to the process by which advances in genetic research are increasingly applicable to all areas of health care.1 Studies show that primary caregivers are often deficient in their knowledge of genetics and genetic tests, and the ethical, legal, and social implications of this knowledge.2-6 Accordingly, this project prepares primary caregivers who have no special training in genetics or genetic counseling to deal with the implications of the Human Genome Project for their practice.

Phase I (fall 1995): Generic topics will be addressed by PI and Co-PIs with Robert Wood Johnson clinical scholars and clinical ethics fellows, led by visiting or internal experts.

Topics: Goals, Methods, & Achievements of the HGP; Typology of Genetic Conditions; Scientific, Clinical, Ethical, and Legal Aspects of Gene Therapy; Concepts of Disease; Genetic Disabilities; Gender and Socio-economic Differences; Cultural and Ethnic Differences; Directive or Nondirective genetic counseling.

Speakers: Jeff Leiden; Julie Palmer; Dan Brock; Anita Silvers; Abby Lippman; James Bowman; Beth Fine

Phase II (Jan.-Mar. 1996): Teams of individuals, all trained in the same area of primary care, will identify and address issues specific to their area, developing course outlines, bibliography, and methodology based on grand rounds given by national expert.

Primary Care Area

 

  • Pediatrics: Genetics expert: Stephen Friend, Ethics Expert: Lainie F. Ross + fellow
  • Obstetrics/Gynecology: Genetics expert: Joe Leigh Simpson, Ethics Expert: Marion Verp + fellow
  • Medicine: Genetics expert: Tom Caskey, Ethics Expert: Greg Sachs + fellow
  • Family medicine: Genetics expert: Noralane Lindor, Ethics Expert: Robert Moss + fellow
  • Nursing: Genetics expert: Mira Lessick, Ethics Expert: Colleen Scanlon + fellow

Phase III (Apr.-May 1996): Policy issues will be identified and addressed as above for all areas of primary care, based on grand rounds given by national expert.

Policy team: Genetics expert: Sherman Elias; Ethics expert: John Lantos + trainee

Phase IV (Oct.-Dec. 1996): Presentation of content developed to new group of fellows and scholars by each of the above teams, followed by evaluation & revision.

Phase V (spring 1997): NATIONAL CONFERENCE and CME/CNE WORKSHOPS for primary caregivers, keynoted by Victor McKusick.

DOE Grant No. DE-FG02-95ER61990.

References

1Lippman A., Prenatal genetic testing and screening, Amer J Law & Med XVII, 15-50 (1991).
2Hofman, K.J., Tambor, E.S., Chase, G.A., Geller, G., Faden, R.R., and Holtzman, N.A., Physicians' knowledge of genetics and genetic tests, Acad Med 68, 625-32 (1993).
3Holtzman, N.A., The paradoxical effect of medical training, J Clin Ethics 2, 24142 (1992).
4Forsman, I, Education of nurses in genetics, Amer J of Hum Genetics 552-58, (1988).
5Williams, J.D., Pediatric nurse practitioners' knowledge of genetic disease Ped Nursing 9, 1 19-21 (1983).
6George, J.B., Genetics: Challenges for nursing education, J Ped Nursing 7, 5-8, (1992).

 


Nontraditional Inheritance: Genetics and the Nature of Science; Instructional Materials for High School Biology

Joseph D. McInerney and B. Ellen Friedman
Biological Sciences Curriculum Study; Colorado Springs, CO 80918
719/531-5550, Fax: -9104, jmcinerney@cc.colorado.edu

There often is a gap between the public's and scientists' views of new research findings, particularly if the public's understanding of the nature of science is not sound. Large quantities of new evidence and consequent changes in scientific explanations, such as those associated with the Human Genome Project and related genetics research, can accentuate those different views. Yet an appealing secondary effect of the unusually fast acquisition of data is that our view of genetics is changing rapidly during a brief time period, a relatively recent phenomenon in the field of biological sciences. This situation provides an outstanding opportunity to communicate the nature and methods of science to teachers and students, and indirectly to the public at large. The immediacy of new explanations of genetic mechanisms lets nontechnical audiences actually experience a changing view of various aspects of genetics, and in so doing, gain an appreciation of the nature of science that rarely is felt outside of the research laboratory.

The Biological Sciences Curriculum Study (BSCS) is developing a curriculum module that brings this active view of the nature and methods of science into the classroom via examples from recent discoveries in genetics. We will distribute this print module free of charge to interested high school biology teachers in the United States.

The examples selected for classroom activities include the instability of trinucleotide repeats as an explanation of genetic anticipation in Huntington disease and myotonic dystrophy, and the more widespread genetic mechanism of extranuclear inheritance, illustrated by mitochondrial inheritance. Background materials for teachers discuss a wider range of phenomena that require nontraditional views of inheritance, including RNA editing, genomic imprinting, transposable elements, and uniparental disomy. The genetics topics in the module share the common characteristic that they are not adequately explained by the traditional, Mendelian concepts that are taught in introductory biology at the high school level. In addition to updating the genetics curriculum and communicating the nature of science, the module devotes one activity to the ethical and social aspects of new genetics discoveries by challenging students to consider the current reluctance to test asymptomatic minors for the presence of the HD gene.

The major challenge we have faced in this project is to make relatively technical genetics information accessible to high school teachers and students and to turn the often passive treatment of scientific processes into an active experience that helps students develop an understanding and appreciation of the nature and methods of science. The module is being field tested in classrooms across the country. Evaluation data from the field test will guide final revision of the module prior to distribution.

DOE Grant No. DE-FG03-95ER61989.

 


The Human Genome Project: Biology, Computers, and Privacy: Development of Educational Materials for High School Biology

Joseph D. McInerney, Lynda B. Micikas, and B. Ellen Friedman
Biological Sciences Curriculum Study; Colorado Springs, CO 80918
719/531-5550, Fax: -9104, jmcinerney@cc.colorado.edu
http://www.bscs.org

One of the challenges faced by the Human Genome Project (HGP) is to handle effectively the enormous quantities and types of data that emerge as a result of progress in the project. The informatics aspect of the HGP offers an excellent example of the interdependence of science and technology. In addition, the electronic storage of genomic information raises important questions of ethics and public policy, many revolving around privacy.

The Biological Sciences Curriculum Study (BSCS) addresses the scientific, technological, ethical, and policy aspects of genome informatics in the instructional program titled The Human Genome Project: Biology, Computers, and Privacy. The program, intended for use in high school and college biology, consists of software and a 150-page print module. The software includes two model databases: a research database housing anonymous data (map data, sequence data, and biological/clinical information) and a registry that attaches names of 52 fictitious individuals (three kindreds) to genomic data. Students manipulate the database software as they work through seven classroom inquiries described in the print material. Also included is 50 pages of background material for teachers.

An introductory activity lets students become familiar with the software and dramatically demonstrates the advantages of technology in analysis of sequence data. In activities 1 and 2, students use the database to construct pedigrees and make initial choices about privacy with regard to genetic tests for their fictitious person. Activity 3 expands genetic anticipation, and in activities 4 and 5, students deal in depth with decision-making, ethics, and public policy, revisiting their earlier decision about testing and data accessibility. A final extension activity shows how comparisons with genomic data can be used to test hypotheses about the biological relationships between individual humans and about the evolutionary significance of DNA sequence similarities between different species.

External reviews and evaluation data from a field test involving 1,000 students in schools across the United States were used to guide final revision of the materials. BSCS will distribute the module free of charge to more than 10,000 high school and college biology teachers.

DOE Grant No. DE-FG03-93ER61584.

 


Involvement of High School Students in Sequencing the Human Genome

Maureen M. Munn, Maynard V. Olson, and Leroy Hood
Department of Molecular Biotechnology; University of Washington; Seattle, WA 98195
206/616-4538, Fax: /685-7344, mmunn@u.washington.edu

For the past two years, we have been developing a program that involves high school students in the excitement of genetic research by enabling them to participate in sequencing the human genome. This program provides high school teachers with the proper training, equipment, and support to lead their students through the exercise of sequencing small portions of DNA. The participating classrooms carry out two experimental modules, DNA synthesis (an introduction to DNA replication and the techniques used to study it) and DNA sequencing. Both of these experiments consist of three parts-synthesizing DNA fragments using Sequenase and a biotinlabeled primer, bench top electrophoresis using denaturing polyacrylamide gels, and colorimetric DNA detection that is specific for the biotinylated primer. Students analyze their sequencing data and enter it into a DNA assembly program. This year, in collaboration with Eric Lynch and Mary-Claire King from the Department of Genetics at the University of Washington, the students will be sequencing a region of chromosome 5q that may be involved in a form of hereditary deafness.

Students also consider the ethical, legal and social issues (ELSI) of genome research in a unit that explores the topic of presymptomatic testing for Huntington's disease (HD). This module was developed by Sharon Durfy and Robert Hansen from the Department of Medical History and Ethics at the University of Washington. It provides a scenario about a family that carries the HD allele, descriptions of the clinical and genetic aspects of the disorder, an exercise in drawing pedigrees and an autoradiograph showing the PCR assay used to detect HD. Students use an ethical decision-making model to decide whether, as a character from the scenario, they would be tested presymptomatically for the HD allele. Through this experience, they develop the skills to define ethical issues, ask and research the relevant questions about a particular topic and make justifiable ethical decisions.

In the first two years of this program, our focus was on the development of robust, classroom friendly modules that can be presented in up to six classes at one time. This year we will focus on disseminating this program to local, regional, and national sites. During a week-long workshop in July, 1995, we trained an additional thirteen high school teachers, bringing our current number to twenty teachers at thirteen schools. We have recruited local scientists to act as mentors to each of the schools and provide classroom support. On the regional level, four of our teachers are from outside the greater Seattle area and will be supported during the classroom experiments by scientists in their region. We have presented this program at national meetings and workshops, including the Human Genome Teacher Networking Project Workshop in Kansas City, KS (June, 1995) and the meeting of the National Association of Biology Teachers in Phoenix, AZ (October 1995). We have also distributed our modules to teachers and scientists throughout the nation to encourage the development of similar programs. This year we will also develop and pilot a module using automated sequencing. This will enable distant schools to participate in the program by providing them with the option of sending their DNA samples to the UW genome center for electrophoresis .

While we hope the human genome sequencing experience will interest some students in science careers, a broader goal is to encourage high school students to think constructively and creatively about the implications of scientific findings so that the coming generation of adults will make judicious decisions affecting public policies.

DOE Grant No. DE-FG03-96ER62175.

 


The Gene Letter: A Newsletter on Ethical, Legal, and Social Issues in Genetics for Interested Professionals and Consumers

Philip J. Reilly, Dorothy C. Wertz, and Robin J.R. Blatt1
The Shriver Center for Mental Retardation; Division of Social Science, Ethics and Law; Waltham, MA 02254
617/642-0230, Fax: /893-5340, preilly@shriver.org
1Also at Massachusetts Department of Public Health, Boston, MA
http://www.umassmed.edu/shriver/

We propose to develop a newsletter on ELSI-related issues for dissemination to a broad general audience of professionals and consumers. No such focussed public newsletter currently exists. Entitled The Gene Letter, the newsletter will be distributed monthly on-line, through the Internet. Updated weekly on the Internet, it will be poised to react in a timely fashion to new developments in science, law, medicine, ethics, and culture. The newsletter does not propose to provide comprehensive education in genetics for the American public, but rather to begin an information network that interested people can use for further information. It will be the most widely-distributed newsletter on ELSI genetics in the world, with the largest consumer readership. Features will be largely informational and will include new scientific/medical developments and attendant ELSI issues, new court decisions, legislation, and regulations, balanced responses to new concerns in the media, and new developments related to health that may be of interest to health care providers and consumers. Features will present balanced opinions. An editorial board will review each issue, prior to publication, for cultural sensitivity, emphasis, balance, and concerns of persons with disabilities. The Gene Letter will also include factual information on upcoming events, new ELSI research, where to find genetics on the Internet, new publications (annotated), and where to find further information about each feature. Readers will be invited to send letters, queries, news, bibliography, comments, and consumer concerns either on The Gene Letter Internet chatroom or in hard copy. A hard copy of the first on-line issue will be used to assess readers' needs and interests. It will be distributed to 500 community college students representing blue-collar ethnic groups, and to 2000 members of a broad general audience.

A special evaluation of readers' knowledge and ethical/social concerns raised by The Gene Letter will take place at the end of the second year in order to assess outcome. It is our intention that The Gene Letter become self-supporting after two years.

DOE Grant No. DE-FG02-96ER62174.

 


The DNA Files: A Nationally Syndicated Series of Radio Programs on the Social Implications of Human Genome Research and Its Applications

Bari Scott, Matt Binder, and Jude Thilman
Genome Radio Project; KPFA-FM; Berkeley, CA 94704
510/848-6767 ext 235, Fax: /883-0311, strp@aol.com

The DNA Files is a series of nationally distributed public radio programs furthering 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 biotech industry, and others from related fields. They will provide real-life examples of the complex social and ethical issues associated with new 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 over two dozen collaborative organizations and fulfillment of listener requests.

"DNA and Behavior: Is Our Fate Written in Our Genes?" is the pilot documentary for the series, scheduled for release in early 1996. The show will help the lay person understand and evaluate recent research in the area of behavioral genetics. Recently, we've seen news media reports on newly discovered genetic factors being related to behaviors such as alcoholism, mental illness, sexual orientation and aggression. This program will look at several examples of these "genetic factors" and evaluate the strengths and weaknesses of various methodologies involved in the research; and introduce such controversial issues as the re-emergence of a eugenics movement based on theoretical suppositions drawn from recent work in behavioral genetics.

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 them mistakenly conclude that these diseases can now 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. "DNA and the Law" reviews the scientific basis for genetic fingerprinting and looks at cases of alleged genetic discrimination by insurance companies, employers and others. This program also looks at disputes over paternity, intellectual property rights, the commercialization of genetic information, informed consent and privacy issues. Other shows include "The Search for a Breast Cancer Gene," "Prenatal Genetic Testing and Treatment," "Evolution and Genetic Diversity," "Sickle-Cell Disease and Thalassemia: Hope for a Cure," and "Theology, Mythology and Human Genetic Research."

DOE Grant No. DE-FG03-95ER62003.

 


Communicating Science in Plain Language: The Science+ Literacy for Health: Human Genome Project

Maria Sosa, Judy Kass, and Tracy Gath
American Association for the Advancement of Science; Washington, DC 20005
202/326-6453, Fax: /371-9849, msosa@aaas.org

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 them access to vital information about their health and well-being. To address this need, the American Association for the Advancement of Science (AAAS) is developing 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 is using its existing network of adult education providers and volunteer science and health professionals to pursue the following overall objectives: (1) to develop new materials for adult literacy classes, including a high-interest reading book and accompanying curriculum, an implementation framework, a short video providing background information on genetics, a database of resources, and fact sheets that will assist other organizations and researchers in preparing easy-to-read materials about the human genome project, and (2) to develop and conduct a campaign to disseminate project materials to libraries and community organizations carrying out literacy programs throughout the United States.

Because not every low-literate adult is enrolled in a literacy class, our model for helping scientists communicate in simple language will have impact beyond classrooms and learning centers. In preliminary contacts, community groups providing health services have indicated that the proposed materials are not only desirable but needed; indeed such groups often receive requests for information on heredity and genetics. The module developed by AAAS should enable other medical and scientific organizations to communicate more effectively with economically disadvantaged populations, which often include a large number of low-literate individuals.

DOE Grant No. DE-FG02-95ER61988.

 


Genome Educators

Sylvia Spengler and Janice Mann
Human Genome Program; Life Sciences Division; Lawrence Berkeley National Laboratory; Berkeley, CA 94720
510/486-4879, Fax: -5717, sjspengler@lbl.gov or jlmann@lbl.gov
http://www.lbl.gov/Education/Genome

Genome Educators is an informal network of educational professionals who have an active interest in all aspects of genetics research and education. This national group includes scientists, researchers, educational curriculum developers, ethicists, health professionals, high school teachers and instructors at college and graduate levels, and others in occupations affected by genetic research.

Genome Educators is a unique collaborative effort dedicated to sharing information and resources to further understanding of current advances in the field of genetics. Seminars, workshops, and special events are sponsored at frequent intervals. Genome Educators maintains an active World Wide Web site (URL: http://www.lbl.gov/Education/Genome). This site contains a calendar of events, directory of participating genome educators, and information about educational resources and reference tools. Participating genome educators may publish articles and talks of interest at this site. In addition, a monitored discussion group is maintained to facilitate dialog and resource sharing among participants.

 


Getting the Word Out on the Human Genome Project: A Course for Physicians

Sara L. Tobin and Ann Boughton1
Department of Biochemistry and Molecular Biology;
Center for Biomedical Ethics; Stanford University; Palo Alto, CA 94304-1709
415/725-2663, Fax: -6131, tobinsl@leland.stanford.edu
1Thumbnail Graphics; Oklahoma City, OK 73118

Progressive identification of new genes and implications for medical treatment of genetic diseases appear almost daily in the scientific and medical literature, as well as in public media reports. However, most individuals do not understand the power or the promise of the current explosion in knowledge of the human genome. This is also true of physicians, most of whom completed their medical training prior to the application of recombinant DNA technology to medical diagnosis and treatment. This lack of training prevents physicians from appreciating many of the recent advances in molecular genetics and may delay their acceptance of new treatment regimens. In particular, physicians practicing in rural communities are often limited in their access to resources that would bring them into the mainstream of current molecular developments. This project is designed to fill two important functions: first, to provide solid training for physicians in the field of molecular medical genetics, including the impact, implications, and potential of this field for the treatment of human disease; second, to utilize physicians as informed community resources who can educate both their patients and community groups about the new genetics.

We propose to develop a flexible, user-friendly, interactive multimedia CD-ROM designed for continuing education of physicians in applications of molecular medical genetics. To initiate these objectives, we will develop the design of the CD and will produce a prototype providing a detailed presentation of one of the four training areas. These areas are (1) Genetics, including DNA as a molecular blueprint, chromosomes as vehicles for genetic information, 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 approaches to patient counseling, genetic dilemmas faced by patients and practitioners, and societal values and development of an ethical consensus. Area (2) will be presented in the prototype.

The CD format will permit the use of animation, video, and audio, in addition to graphic illustrations and photographs. We will build on our existing base of computer generated illustrations. A hypertext glossary, user notes, practice tests, and customized settings will be utilized to tailor the CD to the needs of the user. Brief, multiple-choice examinations will be evaluated for continuing medical education credits by the Office of Continuing Medical Education. The CD will be programmed to permit updates of scientific and medical advances either by downloading from the Internet or from a disc available by subscription.

This is a cooperative project involving individuals with documented expertise in teaching of molecular medical genetics, continuing medical education, graphic design, and CD-ROM production. The content of the CD will be supervised by a scientific board of directors. We present mechanisms for the evaluation of the CD by rural Oklahoma physicians. Arrangements have been made for distribution of the CD by a national publisher of medical and scientific materials. This CD will provide a powerful tool to educate physicians and the public about the power and potential of the human genome project for the benefit of human health.

DOE Grant No. DE-FG03-96ER62172.

 


The Genetics Adjudication Resource Project

Franklin M. Zweig
Einstein Institute for Science, Health, and the Courts; Bethesda, MD 20814
301/961-1949, Fax: /913-0448, einshac@aol.com
http://einshac.org/

The Einstein Institute for Science, Health, and the Courts is preparing the foundation for a new utility needed to prepare the nation's 21,000 courts to adjudicate the genetics and ELSI-related issues that foreseeably will rush into the courtroom as the Human Genome Project completes its genomic mapping and sequencing mission during the next ten years. This project initiates practical collaboration among courts, legal and policy-making institutions, and science centers leading to modalities for understanding the scientific validity of claims, and for the resolution of ethical, legal, and social disputes arising within the genetic testing and gene therapy contexts. Our objective over the ensuing decade is to facilitate genetic testing and gene therapy dispute management, and to avoid to the extent possible the confusion that characterized adjudication of forensic DNA technologies during the decade just ended.

The outlines of a genetics adjudication utility were given form by the 1995 Working Conversation on Genetics, Evolution, and the Courts, involving 37 federal and state judges and others in science and policymaking leadership positions from across the nation. The courts are becoming aware of genetics, molecular biology, and their applications, and judges want public confidence to be maintained as the profound and complex issues set in motion by the HGP begin the long course of litigation. Modalities for understanding the underpinning science are needed, as well as instrumentalities to assure that the best cases are actually filed and pursued. Because the courts are the front-line for resolving disputes, creative lawyering will assure an abundance of lawsuits. Many such lawsuits will request the courts to make policy judgments, perhaps best undertaken by state legislatures and Congress. Accordingly, a new adjudication utility should provide forums for judicial/legislative exchange, preparatory deliberations in anticipation of pressure to make rushed policies under conditions of great social uncertainty in the wake of human genetics progress.

EINSHAC will provide a design, planning, communications, and implementation center for a multipurpose resource project available to the courts. It will undertake over an 18 month period the following tasks, pilot-testing each and assessing the best organizational locales for those that exhibit promise:

1. Judicial Education in Genetics & ELSI-Related Issues for six Judicial Branch leadership associations and nine metropolitan courts--aimed at 1,000 judges--in conjunction with scientific faculty and coaches mobilized by DOE/national laboratories and the American Society for Human Genetics.

2. Judicial Digital Electronic Collegium--technological modernization of the courts community by providing access to ELSI and genetics information through Internet resources.

3. Amicus Brief Development Trust Fund--a process and resources to support law development at the state and federal appeals courts level.

4. Genetics Indigent Party Trust Fund--a process and resources at the state and federal trial level to sustain meritorious civil cases holding promise of effective law development.

5. Establishment of a Pro-Bono Legal Services Clearinghouse--a personal and on-line referral resource for persons seeking representation for genetics and ELSI-related cases.

6. Access to Neutral Expert Witnesses--advisors to courts encountering particularly complex cases deemed right for the judicial exercise of Federal Rule of Evidence 706 and its State counterparts.

7. Pilot of Judicial/Legislative ELSI Policy Forums--provision of neutral staff and coordination in three mid-Atlantic states considering legislation related to health care, insurance, privacy, medical records.

8. National Training Center for Minority Justice Personnel--facilitating a leadership preparation program for the nation's minority court-related personnel in a consortium arrangement with the Ruffin Society of Massachusetts, the College of Criminal Justice at Northeastern University, and the Flaschner Judicial Institute.

The Project actively involves judges, scientists, and prominent lawyers. It will report to the EINSHAC Board of Directors that includes prominent judges, justices and scientists, several of whom participated in the 1995 Working Conversation on Genetics, Evolution and the Courts. As a continuing guidance forum, EINSHAC will conduct a Working Conversation followup in Orleans, Cape Cod in July, 1996.

DOE Grant No. DE-FG02-96ER62081.

 


Your World/Our World, Exploring the Human Genome: Teacher's Resource Materials

Jeff Davidson and Laurence Weinberger
Pennsylvania Biotechnology Association and Alliance for Science and Education; 1524 West College Ave.; State College, PA 16801
814/238-4080, Fax: -4081

The Pennsylvania Biotechnology Association, in conjunction with the Alliance For Science Education, publishes the biotechnology science magazine YOUR WORLD/OUR WORLD to introduce middle school students to the underlying science and the ethical, legal, and social issues (ELSI) raised by modern biological research and technology. The magazine has been highly acclaimed and well received by the educational, scientific, and business communities.

Teacher's resource materials are being prepared to complement and enhance usage of the special enlarged issue of YOUR WORLD/OUR WORLD, Exploring the Human Genome produced and distributed in 1996 in part through a previous DOE award. The special issue, no matter how well produced, could provide only the minimum resources a teacher would need to introduce so large and interesting a subject.

The supplementary materials will facilitate the teaching of middle school children about genomics, the Human Genome Project, and ELSI implications raised by the project. These resources, which will be offered to all 44,000 biological science teachers of grades 7 through 12 in the United States, will include such activities as laboratory experiments, demonstrations, classroom display and student materials, and extensive exercise guides to lead the teacher and class through discussions of ELSI issues.

 


Intellectual Property Issues in Genomics

Rebecca S. Eisenberg
University of Michigan Law School; Ann Arbor, MI 48109
313/763-1372, Fax: -9375, rse@umich.edu

Intellectual property issues have been uncommonly salient in the recent history of advances in genomics. Beginning with the filing of patent applications by NIH on the first batch of expressed sequence tags (ESTs) from the laboratory of Dr. Craig Venter, each new development has been met with speculation about its strategic significance from an intellectual property perspective. Are ESTs of unknown function patentable, or is further work necessary before they satisfy patent law standards? Will patents on such fragments promote commercial investment in product development, or will they interfere with scientific communication and collaboration and retard the overall research effort? Without patent rights, how may the owners of private cDNA sequence databases earn a return on their investment while still permitting other investigators to obtain access to the information on reasonable terms? What are the rights of those who contribute resources such as cDNA libraries that are used to create the databases, and of those who identify sequences of interest out of the morass of information in the databases by formulating appropriate queries? Will the disclosure of ESTs in the public domain preclude patenting of subsequently characterized full-length genes and gene products? And why would a commercial firm invest its own resources in generating an EST database for the public domain?

Two factors have contributed to the fascination with intellectual property in this setting. First is a perception that some pioneers in genomics have sought to claim intellectual property rights that reach beyond their actual achievements to cover future discoveries yet to be made by others. For example, the controversial NIH patent applications claimed rights not only in the ESTs that were actually set forth in the specifications, but also in the full-length cDNAs that might be obtained by using the ESTs as probes, as well as in other, undisclosed fragments of those genes. More recently, private owners of cDNA sequence databases have set as a condition for access agreement to offer the database owners licenses to any resulting intellectual property. These efforts to claim rights to the future discoveries of others raise issues about the fairness and efficiency of the law in allocating rewards and incentives along the path of cumulative innovation.

Second is the counterintuitive alignment of interests in the debate. It was a public institution, NIH, that initially favored patenting discoveries that some representatives of industry thought should remain unpatented, and it was a major pharmaceutical firm, Merck & Co., that ultimately took upon itself the quasi-governmental function of sponsoring a university-based effort to place comparable information in the public domain. These topsy-turvy positions in the public and private sectors raise intriguing questions about the proper roles of government and industry in genomics research, and about who stands to benefit (and who stands to lose) from the private appropriation of genomic information.

 


Confidentiality Concerns Raised by DNA-Based Tests in the Market-Driven Managed-Care Setting

Jeroo Kotval
Department of Public Health Policy and Management; School of Public Health; University of Albany, S.U.N.Y.; Executive Park South; Albany, NY 12203-3727
518/402-0301, Fax: -0414, jsk03@health.state.ny.us

The objective of this project is to develop ethically based policy proposals to address confidentiality concerns raised by the use of DNA-based tests in the market-driven managed care setting. Using an ethical framework for confidentiality, an empirical investigation will be made to determine departures from the ideal. Policy proposals related to confidentiality of genetic tests will be developed after a thorough search of relevant state and federal laws. Policy developed in this manner is expected to be more applicable to the changing health-care delivery system. The policy proposals and the rationale behind them will be disseminated through publications in peer-reviewed journals.

 


Genes, Environment, and Human Behavior: Development of Educational Materials for High School Biology

Joseph McInerney and B. Ellen Friedman
Biological Sciences Curriculum Study; 5415 Mark Dabling Blvd.; Colorado Springs, CO 80918
719/531-5550, Fax: -9104, jmcinerney@cc.colorado.edu

The Biological Sciences Curriculum Study (BSCS) proposes a 24-month project to develop an instructional module on genetics and human behavior for use in the introductory high school biology curriculum, generally taught in tenth grade. 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 will employ the process of curriculum development that BSCS has refined continually since the inception of the organization in 1958. In addition, development of the proposed module will draw upon the experience BSCS has acquired during the development, distribution, and implementation of three genome-related instructional modules between 1991 and 1996. This experience includes periodic reviews of progress by the education committees of the American Society of Human Genetics, the National Society of Genetic Counselors, and the Council of Regional Networks for Genetic Services.

BSCS will distribute the completed module free of charge to all interested high school biology teachers, soliciting interest by using the database of 36,000 biology teachers compiled by Quality Education Data.

 


The Science and Issues of Human DNA Polymorphisms: An ELSI Training Program for High School Biology Teachers

David A. Miklos and Mark Bloom
DNA Learning Center; Cold Spring Harbor Laboratory; One Bungtown Rd; Cold Spring Harbor, NY 11724
516/367-7240

We propose a nationwide training program to introduce high school biology faculty to a laboratory-based unit on human DNA polymorphisms that provides a uniquely personal perspective on the science and ethical, legal, and social (ELSI) aspects of the Human Genome Project. The program is based on new laboratory and computer technology developed at the DNA Learning Center and the University of Chicago to make human DNA fingerprinting by polymerase chain reaction accessible and affordable for high school use. Program participants learn simplified laboratory techniques for amplifying two types of DNA polymorphisms--an Alu insertion (TPA-25) and a VNTR (D1S80). Internet-accessible computer software, the Student Allele Database, then enables students to use their own polymorphism data as the starting point for the study of population genetics and evolutionary biology. Experimental and computer work provides the basis for discussions on the uses and potential abuses of genetic technology.

Four training sessions (20 participants each) will be held each year in major urban areas within commuting distance of a large potential audience of biology faculty. Training will be conducted at genome research centers that can provide seminar speakers and laboratory tours to augment the core laboratory, computer, and theory components. 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 genome-based biology.

 


Hispanic Role Model and Science Education Outreach Project--Human Genome Project Education and Outreach Component

Molly Multedo and Otto Rodriguez
Self-Reliance Foundation; 121 Sandoval Street; Santa Fe, NM 87501
505/984-0080, molly@hrn.org

The broad purpose of this project is to provide parents with ideas, information, and inspiration so they will become better informed about the Human Genome Project.

The Self-Reliance Foundation (SRF) has established four specific project goals:

Develop awareness of the Human Genome Project's importance among Hispanic citizens and residents by regularly presenting topics on the scientific basis of genetics and on the ethical, legal, and social issues (ELSI) related to the Human Genome Project.

Increase the knowledge of Hispanics on a variety of topics concerning the scientific and ELSI issues related to the Human Genome Project so that myths are dispelled and Hispanic adults can make informed decisions.

Provide access to local, regional, and national educational resources via an 800 information line with live Spanish-speaking operators; provide access to written information in both Spanish and English via a linked Web site.

Inform the scientific community about issues and concerns raised by callers to the 800 line and comments from evaluators and Web site users via SRF's collaboration with the National Center for Genome Resources, which will present project feedback to participants at its conferences.

To achieve these ambitious goals, our strategy goes beyond the presentation of programming. SRF has made significant progress toward establishing a national network of health clinics, educational resources, and organizations that can support Hispanic families as they pursue their educational interests and goals with respect to health and science. We have worked closely with a number of Hispanic-related organizations during the past year and are seen by them as one of the most effective ways of reaching and interacting with Hispanic audiences, expanding their reach to the vast underserved Spanish-dominant portion of the U.S. Hispanic population. The SRF 800 number is already serving as the vital link in this effort.

 


Community College Initiative: A Program for Preparing Community College Students to Work in Biotechnology

Sylvia Spengler and Laurel Egenberger1
Human Genome Program; Life Science Division; Lawrence Berkeley National Laboratory, MS 1459; Berkeley, CA 94720
510/486-5874, Fax: -5717, sjspengler@lbl.gov
http://www.lbl.gov/Education/Genome/
1Center for Science and Engineering Education

The Community College Initiative is a program to prepare community college students for work in biotechnology. This program is a combined effort of Lawrence Berkeley National Laboratory (LBNL) and the California Community Colleges. Its goal is to develop mechanisms to encourage students, particularly from underrepresented groups, to pursue science, mathematics, engineering, and technology studies to participate in forefront laboratory research and to gain valuable work experience.

The initiative is structured to upgrade the skills of students and their instructors through four major program components spread over 3 years.

SUMMER STUDENT WORKSHOPS: Four-week summer residential programs for students who have completed the first year of their biotechnology academic studies. Students attend an orientation program and then work through a series of realistic laboratory exercises to develop their problem solving, decision making, laboratory techniques, computer, instrumentation, and mathematics skills. Ethical, legal, and social concerns are integrated into the program and students learn to identify commonly shared values of the scientific community and increase their understanding of issues of personal and public concern.

TEACHER WORKSHOP TRAINING: Seminars for biotechnology instructors to improve, upgrade, and update their understanding of current technology and laboratory practices. Special emphasis is placed on laboratory techniques, instrumentation, computers (including the Internet), safety, and curriculum development in current topics in ethical, legal, and social issues in science.

SABBATICAL FELLOWSHIPS: Semester-length research fellowships for community college instructors provide investigative and field experience in research laboratories. Instructors will work one-on-one with research scientists on specific prearranged projects. These projects may vary from traditional research to creation of training materials for use in the laboratory and community college classroom. During the fellowship, these teachers also assist in development of the second-year student summer research activities for their project.

SUMMER FACULTY-STUDENT TEAMS: Faculty who have completed research fellowships and students who have finished their second academic year join forces on projects begun in the teacher sabbatical program. The community college instructors provide the much-needed assistance in developing curriculum, providing laboratory training, and assistance mentoring summer students during this 10-week program.

 


Electronic Scholarly Publishing: Foundations of Genetics

Robert Robbins
Fred Hutchinson Cancer Research Center; 1124 Columbia Street; Seattle, WA 98104
206/667-2920, Fax: -6223, rrobbins@fhcrc.org

As the Human Genome Project (HGP) moves toward its successful completion, a growing number of individuals are becoming interested in understanding this project and its results. Since the HGP has potentially significant ethical, legal, and social implications (ELSI) for all citizens, the number of individuals who should become familiar with the project is very high. 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.

Understanding the results of HGP research requires a familiarity with the notions of basic genetics. We propose to create an educational resource at which classic literature, establishing the foundations of modern genetics, will be republished in readily available, typeset-quality electronic form. Making the results of genome research widely available and accessible (both intellectually and physically) is a key goal of the ELSI component of the Human Genome Project. By providing interested parties worldwide with ready access to the intellectual foundations of genetics, the proposed electronic-publishing project will greatly facilitate the achievement of that goal.

Preliminary results from a demonstration project have established the feasibility of such a project and have offered some indications of the great need and demand for it. In addition to publishing original literature, we will also provide a variety of tools to facilitate access and use of our publications. Our site will be designed to function in a federated information infrastructure, and we will actively support the work of third-party, value-adding developers.

In 1900, genetics was just beginning as a scientific discipline. As 2000 approaches, the Human Genome Project promises to deliver molecular-level information detailing our genetic heritage. Now, early results of the HGP hold out great promise in areas from agriculture to biotechnology to medicine and beyond. As the HGP runs to completion, its effects will spread throughout society, stirring increasing interest among informed citizens. Understanding the HGP's significance depends in part on a basic understanding of genetic principles. This project will help bring that understanding to a wide audience.

 


Measuring the Effects of a Unique Law Limiting Employee Medical Examinations to Job-Related Matters

Mark Rothstein and Steve Craig
Health Law and Policy Institute; University of Houston Law Center; 4800 Calhoune; Houston, TX 77204-6381
713/743-2101

One of the most frequently expressed concerns about new scientific discoveries as a result of the Human Genome Project is that there could be genetic discrimination in insurance and employment. The issue of discrimination in insurance, primarily health insurance, has justifiably received widespread attention in the scholarly literature. Among other research, there has been a special task force on insurance of the Joint Working Group on Ethical, Legal, and Social Implications of the Human Genome Project, a special committee report of the National Action Plan on Breast Cancer, a special report of the American Council of Life Insurance-Health Insurance Association of America, and numerous articles.

Human Genome Project 1990–2003

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.

Human Genome News

Published from 1989 until 2002, this newsletter facilitated HGP communication, helped prevent duplication of research effort, and informed persons interested in genome research.