ELSI Publications and Products Database

The objective of this training and research project is to develop the candidate into an independent and interdisciplinary ELSI researcher, with the ability to intertwine qualitative empirical with normative approaches to issues in genetics and genomics. To accomplish this objective, I have proposed: (1) Training that builds upon my previous education and experience as a qualitative social scientist with additional training in genetics and bioethics; and (2) Research that takes a combined social scientific and bioethical approach to understanding and guiding the translational pathways of new genetic innovations. The proposed training includes coursework, directed readings, seminars and workshops, and the mentored development of an interdisciplinary ELSI research project. The long-term goal of the research project is to map out an ELSI-integrated translational pathway for genetic innovations: building a model of crucial points for, and types of, ELSI guidance throughout these translational processes. The specific Aims of this project are: (1) To follow the unfolding translational pathway of cffDNA testing technology, as a case study in translation processes for genetic innovations; and (2) To map crucial points for ELSI guidance along the translational pathway of genetic innovations. Through individual interviews with stakeholders and observations of meetings and conferences of stakeholders, this mapping project will examine the case of cell-free fetal DNA (cffDNA) testing and the actors and networks that influence its development toward potential clinical applications. Comparing features of this process with those of other translations of genetic innovations, it will identify critical moments, turning points, and intersections at which important decisions shape the unfolding translational pathway. Finally, through collaboration with key stakeholders in cffDNA and non-invasive prenatal testing, a model will be developed that proposes types of ethical and social guidance for these crucial points that would likely be most beneficial. PUBLIC HEALTH RELEVANCE: A significant part of the role of ELSI research is the identification and integration of ELSI considerations into translational research, promoting improved public health, health equity for underserved groups, concern for community values, and protection for vulnerable populations. Through detailed examination of the development of cell-free fetal DNA testing, this project will add complexity and contingency to existing models of the translational pathway. This, in turn, will lead to fuller and more situationally-responsive integration of ELSI guidance along the entire translational pathway for genetic innovations.

This project proposes to develop a searchable archive of images illustrating the American Eugenics Movement for use by students, educators, and others concerned with the ethical, legal, and social implications (ELSI) of human genome research. The Archive will be based primarily on the corpus of rare materials remaining from the Eugenics Record Office at Cold Spring Harbor, which was the epicenter of American eugenics from 1910-40. These materials have been heretofore essentially inaccessible- some remaining in the Cold Spring Harbor Laboratory Research Archives and the bulk coming to rest within the last several years at the American Philosophical Society in Philadelphia. The digital Archive will include photographs of eugenics researchers and caseworkers, exhibits from eugenic congresses and fairs, case materials and pedigrees from family studies, title pages and tables from monographs, and brief items from the Eugenical News and other publications.

This project will examine the knowledge, attitudes and beliefs of women from diverse backgrounds concerning the etiology of familial breast cancer. Aim #1: Twenty-five women with suspected hereditary breast cancer from diverse ethnic/racial, socioeconomic, and geographic backgrounds will participate in qualitative interviews designed to assess knowledge, beliefs, and attitudes regarding the etiology of familial breast cancer. Based on themes from these interviews, we will design a larger survey exploring these issues. Aim #2: Approximately 400 women will complete this survey of their knowledge and attitudes concerning hereditary breast cancer etiology. The influence of sporadic versus suspected hereditary breast cancer, ethnicity/race, socioeconomic status, and urbanicity will be assessed using a multi-variant ANOVA. Finally, in AIM#3, the results of both the qualitative interviews and the larger scale survey will be used to design and evaluate educational strategies for women at risk for hereditary breast cancer and their clinicians.

This study (N=300) of women at high familial risk for breast and ovarian cancer aims to develop and assess a core intervention, based on state-of-the-art theory and research, to facilitate well-informed decisions for BRCA1/2 testing. In this procedure the genetic cancer testing candidate is helped to cognitively and emotionally anticipate scenarios about alternative potential outcomes of testing outlined in the informed consent process. The goal is to enable the individual to vividly imagine the personal and social impact on herself and her future, in the context of a brief, structured supportive counseling session. The utility of the Cognitive-Affective Preparation (CAP) procedure will be evaluated systematically, in a randomized controlled trial, with General Health Information (GHI) serving as a control condition. Outcome measures include: the depth, complexity and accuracy of information processing; decisions about, and evaluation of, participation in genetic testing; and adjustment and adherence to recommended cancer-protective behaviors. Assessments will be obtained at baseline, after standard care, after CAP or GHI, after pre-disclosure and disclosure of results, and at 1-2 week and 6-month follow-up intervals.

The Advancing Research Ethics training in Southern Africa (ARESA) program will promote responsible research in southern Africa by offering a postgraduate Diploma/Masters level educational program to health care and other professionals in research ethics and by developing a national network for Research Ethics Committee (REC) members. The Bioethics Unit at the University of Stellenbosch, South Africa and the Centre for Bioethics, University of North Carolina-Chapel Hill, USA will strengthen and expand local and regional African capacity using the foundation in research ethics built by the IRENSA program by developing a research ethics curriculum incorporating a broad range of ethical issues across the health research spectrum, including ethics of qualitative research, mental health research, genetic research with indigenous populations, and pediatric research. The curriculum will devote special attention to ethical issues related to research design and methodology in response to the local needs of local research ethics committees, and reflect health conditions faced by vulnerable populations in Southern Africa by emphasizing the ethical challenges raised by research on infectious diseases (HIV and TB) and emerging chronic diseases. Ten Southern African trainees per year will be selected to participate in 3 two-week intensive and interactive research ethics modules at the University of Stellenbosch Bioethics Unit, be exposed to research ethics committee deliberations, and complete a practicum assignment. To enhance career development, trainees will be individually mentored by ARESA faculty to build capacity in research methodology, manuscript preparation and grant-writing, and to develop a package of research training materials to be used at their home institutions. To expand research ethics capacity nationally, we will publish a trainee-driven South African Research Ethics Committee (SAREC) newsletter online, organize an annual ARESA conference in Cape Town, and initiate the formation of an association of South African research ethics committees. PUBLIC HEALTH RELEVANCE: With its high infectious disease burden and vast populations of treatment naove patients, Southern Africa is a highly sought after venue for biomedical and other research involving human participants. However, local capacity in the ethical conduct and regulation of research in the region remains incomplete and under-developed. This program will contribute to public health by enhancing the responsible conduct of research and by helping to maintain trust between research institutions, researchers and communities.

A collaborative interdisciplinary approach will be employed to address issues of insurance and the HGP: to describe and classify the variety of screening and diagnostic techniques likely to develop; to identify, classify and evaluate the implications for private and public insurance markets; to identify the social and economic incentives and disincentives to application of new technologies; to identify and analyze normative ethical problems that arise out of the implementation of genetic screening tests; to assess public policy issues likely to arise; to evaluate current laws and regulations; and to develop guidelines and policy recommendations. A matrix of 54 different situations will be developed and used to analyze laws and policies. Analytic strategies include: testing analogous case based approaches; surveying a representative sample of the insurance industry; utilizing a panel of industry and legal experts; searching of state and federal data banks and computerized case law services; reviewing legal commentary; and surveying insurance and legal experts and the National Association of Insurance Commissioners.

The ethical, legal, and social issues arising from the use of DNA forensics have not been fully explored. This project aims to investigate the various positions on new and controversial issues surrounding DNA profiling and to educate policymakers so that they better understand privacy and civil liberty issues involved in the application of DNA technology to the criminal justice system. To these ends, a series of small workshops involving ethicists, lawyers, political and social scientists, forensic experts, defense lawyers and prosecutors, and representatives of prisoners and parolees, including members of the major ethnic groups represented in forensic DNA banks, will examine the issues. The project team will collect data, updating information on international laws and regulations and procedures in order to ground workshop discussions. Issues to be addressed include: (1) who should be included in forensic databases; (2) tissue collections as potential databases; (3) sample retention; (4) length of retention; (5) access to forensic DNA databanks; (6) partial matches; and effects on relatives; (7) racial identification using DNA haplotype analysis; (8) resource allocation; (9) federal versus state roles; (10) role of medical personnel; (11) the 'autonomy of science;' (12) uses of samples in medical research; (13) behavioral genetic research; (14) informed consent for research; (15) commercialization; (16) use for epidemiological purposes; (17) fiduciary issues versus the common good; (18) us+R379e of DNA collected for identification in mass disasters; (19) national DNA identification cards. Workshop participants will produce position papers for publication in a special issue of the American Society of Law, Medicine &Ethics (ASLME) Journal of Law, Medicine &Ethics, which, in addition to its regular subscribership, will be distributed to policymakers throughout the United States. Presentations will be placed on a website. In order to educate policymakers (especially state legislators), judges, and district attorneys, a national education symposium, in Williamsburg, VA, based on the workshop discussions, will conclude the project, with two scholarships offered to two policymakers from each state.

The CHLC was the first genome center to have an ELSI core as an ongoing part of the center. The ELSI core has two areas of focus. First, it has formed a multidisciplinary IRB-type committee that examines issues related to informed consent in genetics research and reviews genetics protocols by IRBs. These investigators have determined the status of informed consent in consent documents used for DNA banking, have analyzed the problems related to informed consent in DNA studies by genetics investigators in university laboratories, and have developed recommendations regarding the need to expand the concept of informed consent to fit the unique context of DNA banking. The second area of focus has been the establishment of a visiting fellowship program aimed at professionals who think, write, and speak at conferences about the Genome Project, but who are not biological scientists.

This project will provide an overview of the impact of the HGP on access to health care. In addition to scholarly articles, the product of this research will be a book on the HGP and access to health care, which will address the HGP's impact on health care needs, the likely availability of resources, and our concepts of health, illness, and personal responsibility for health and illness. The project will also examine the impact of the HGP on the health care enterprise in the US, focusing on access, and how decisions about financing may be affected. It will incorporate studies of the impact on health insurance, government programs affecting access and reimbursement, employer health benefits, and the distribution of scarce medical resources. Finally, the book will analyze the HGP's overall impact on the practice of medicine, biomedical ethical issues, and legal issues and policy options. This final section will suggest priorities for future research as well as potential options for policy.

New screening technologies and new knowledge about the origin and treatment of genetic conditions are changing the genetic screening environment. This project will focus on the impact of these changes on newborn screening, an on-going public health program that tests virtually all newborns for genetic disorders. The long-term objective is to provide guidance to the professionals, policymakers, and members of the public who must make decisions about newborn screening in this new environment. The specific aims are:1. To carry out an in-depth analysis of a set of closely related current and emerging ethical and social issues that are critical to newborn screening decisions as the area rapidly develops. These issues relate to fairness in the distribution of the costs and benefits of newborn screening; information, consent and privacy; consultation and decision making; and race, ethnicity and socioeconomic status.2. To use this analysis as the basis for a framework for newborn screening policy determination and assessment that adequately responds to these issues.3. To disseminate the results in formats appropriate to the needs of specific groups of decision makers. To pursue these aims, the Hastings Center will assemble an interdisciplinary group with expertise and experience in genetic screening, ethics, public health, economics, law, public policy, and consumer advocacy. The group will hold four meetings to explore the key issues in the identified areas, using four genetic disorders as case studies: Sickle Cell Disease, Cystic Fibrosis, Medium Chain Acyl-CoA Dehydrogenase deficiency (MCAD), and Severe Combined lmmuno-Deficiency (SCID). The project will produce a series of work products: a paper on the evolving scientific and clinical issues in newborn screening; a report on the policy determination and assessment framework; background papers on the supporting analyses; and written and web-based educational materials for decision makers. Through a subcontract, the March of Dimes will provide technical assistance on scientific and clinical issues and work with the Hastings Center to disseminate the project results.

This study will explore the meaning of human genetics in popular culture, within the context of changing ideas about heredity and eugenics since the turn of the century. Drawing on the methods of social historians and communication studies, fiction, film, newspaper accounts and specialized publications will be examined. Key images and ideas about human heredity will be articulated, their meaning interpreted, and their roles in shaping the public response to findings in human genetics suggested. Preliminary work has focused attention on five themes that preoccupy the popular mindset: notions of 'genetic essentialism', the importance of blood relations, the importance of 'nature' in determining individual traits, genetic stereotypes, and a fear of 'tampering' with genes. Preliminary findings also show the renewed popular interest in old claims of behavior psychology, given legitimacy by molecular studies. But the major appeal of genetic explanations lies in their resonance with current social and political concerns. Popular images can help us understand the popular ideas that ultimately affect social policies, human relationships, and health care decisions, as well as public receptivity to genetics research.

Being transparent about the use of data collected during clinical care is important to establish trust relationships between patients and researchers. We propose to develop a system to elicit patient preferences for clinical data sharing that takes into account what data are going to be shared and who is going to be the recipient of shared data. Lessons learned from a pilot study indicate that providing such options in a real clinical setting does not result in massive patient withdrawal in data sharing. The proposed project will generate practical tools and knowledge to guide the development and implementation of informed consent management systems. We plan to conduct a large-scale study in which we will: (1) Determine the best way to present data sharing preferences to patients. Specifically, we will compare preferences elicited via a simple interface (where data categories, such as laboratory tests, and data recipients, such as researchers working in non-profit institutions, will be available) or a complex interface (where items within each data category and within each category of recipients will be available, such as genetic tests and researchers working in the pharmaceutical industry, respectively). These selections will be honored by the research data delivery team through links to our clinical data warehouse for research. (2) Study patient characteristics associated with data sharing preferences for 1,200 randomly sampled patients from 39 diverse general and specialty clinics. Where applicable, we will also compare patient selections for their own data to selections they would make as surrogate decision makers for others. We will conduct surveys where patients can indicate their subjective perception of disease, and we will objectively assess disease severity from EHR data for comparison. This will help us understand whether disease severity plays a role in data sharing preferences. (3) Statistically analyze the degree to which patient preferences affect shared data. This will be important so we can ascertain the quality of data that are shared for research. PUBLIC HEALTH RELEVANCE: We will use an informed consent management system, called iCONCUR (informed CONsent for Clinical data and sample Use for Research), to survey 1200 patients recruited from the outpatient clinics of the UCSD Health System. Our goal is to better understand the factors that influence patients' clinical data sharing preferences. We will also investigate if patients' decision to opt-­out of data sharing results in significant distortions i the data available for research.

This conference, The Human Project: Science, Law, and Social Change in the 21st Century, will bring together 300-500 physicians, lawyers, consumers, ethicists, and scientists to explore the impact of new genetic technologies and prepare for the challenges ahead. Organized by the Whitehead Institute for Biomedical Research, in association with the American Society of Law, Medicine &Ethics (ASLME), the conference on April 23 and 24, 1998, will offer plenary sessions on 1) The Information Revolution in Genetics; 2) Privacy and Genetic Discrimination: Effects on Individuals and Society; and 3) Altering Genes in Individuals and Populations. Each plenary session will be followed by relevant workshops. The conference organizers will disseminate the results of the conference through an interactive Web site maintained by the Whitehead Institute; The Gene Letter (an Internet newsletter on genetics and public policy started in July 1996 under a grant from DOE); a special issue of ASLME's Journal of Law, Medicine &Ethics; review articles submitted to leading scientific journals, such as The American Journal of Human Genetics; a specially prepared CD-ROM to be distributed free-of-charge to medical, law, and public health libraries around the country; and two follow-up newsletters, six and twelve months after the conference, with up-to-date information about legislative trends, recent judicial decisions, and changes in public health policy related to genetics.

The broad, long-term objectives of this proposal are to develop Genline, an electronic clinical genetics knowledge base, to assist health professionals in using the scientific advances of The Human Genome Project for the care of patients with inherited diseases. The Specific Aims are: —> to develop a knowledge base of authoritative, concise, up-to-date information relating new genetic tests to the diagnosis, management and counseling of families with genetic diseases; —> to develop a data base in which to store the contents of the knowledge base in a structured form to permit multiple views and uses of the data; —> to distribute the contents of the knowledge base online via the World Wide Web; —> to evaluate the effectiveness of the knowledge base in meeting the information needs of the two targeted audiences; genetics professionals (medical geneticists, genetic counselors, and nurses in genetics) and non-geneticist health care providers (physicians, nurses and other providers in specialty practice and primary care).

This project will develop video based educational materials to inform new parents about implications of DNA testing for disorders evaluated in the newborn screen, using Cystic Fibrosis (CF) Newborn Screening as a model. The investigators will optimize the impact of the video content based on focus group and post-video evaluation feedback. They will compare the efficacy of informing parents by standard written educational materials to providing an in- hospital, postpartum video presentation disseminated by an interactive hospital television network which allows on-line pre- and post-education comprehension assessments. Long-term retention of information will be evaluated. The effectiveness of education in preparing parents for the informed dissent process designed for obtaining permission to perform pilot newborn screening tests will also be assessed in this population. On demand interactive in-hospital televison education will provide a cost effective means for educating parents about genetics issues, implications of DNA based testing, and assessing their comprehension of the complex concepts.

Evolving intellectual property (IP) policies of governments and organizations are impacting biotechnology sectors and access to genetic materials for development of pharmaceuticals. The National Institutes of Health, through the Human Genome Project among others, specifically recognizes the need for policy options in the area of intellectual property to facilitate the widespread use of genetic and genomic information in both research and clinical settings. Unfortunately, the empirical evidence on the impact of IP on research and development in genetics and genome-related life sciences is thin and under-analyzed. This project will comprehensively quantify the changing structure and innovation implications of genetics, genomics and biosciences IP patterns and policies from an international perspective. Complementing these largely empirical efforts, economic modeling components- closely conceived and performed with legal and biosciences expertise-will draw from and feed directly into various international initiatives (e.g., at WIPO) and programs (e.g., at Gates Foundation) addressing neglected health and diseases problems, as well as inform U.S. policy and decision makers. The proposed research addresses a range of critical and interrelated innovation incentive issues including: links between IP ownership and use, implications for generating and accessing key technologies, and types of licenses and institutional arrangements effective at disseminating different types of technologies originating in the public and non-profit sectors or the private sector. Through a coordinated program of institutional, economic, and legal research, this project will: a) undertake an in-depth quantitative assessment of the changing international patent landscape in the genetics and genomics area of the life sciences; b) investigate and map the forms and degrees of IP protection available under policies in the United States and a sample of developed and developing countries; c) investigate alternative institutional designs for sharing and accessing IP internationally; d) initiate a variety of communications activities designed to inform and influence IP policy and practice in both national and international arenas. The project outcomes are also expected to influence the development of specific institutional arrangements to facilitate the creation and exchange of genetics and genomics technologies internationally, and to establish effective mechanisms to promote innovation addressing neglected health needs and other priorities.R387 PUBLIC HEALTH RELEVANCE: This project will comprehensively quantify the changing structure and innovation implications of genetics, genomics and biosciences IP patterns and policies from an international perspective. Complementing these largely empirical efforts, economic modeling components-closely conceived and performed with legal and biosciences expertise-will analyze a range of critical and interrelated innovation incentive issue: including links between IP ownership and use, implications for generating and accessing key technologies, and types of licenses and institutional arrangements effective at disseminating different types of technologies originating in the public and non-profit sectors or the private sector.

This project will investigate the nature of disability to articulate, for public policy, the purposes for which emerging testing capabilities ought ethically to be used. To analyze the nature of disability, the project participants--including experts from disability studies, medical geneticists, genetic counselors, philosophers, and others--will examine two distinctions that are not well addressed in the literature: the distinction between nondisease and disease traits, and the distinction between medical and social disabilities. The project will draw on the social scientific data already available and on the expertise of project participants to examine the psychological, social, and economic dimensions of the impact of disability on families and society through a series of case studies in sickle cell anemia, Down syndrome, Alzheimer disease, schizophrenia, deafness, male homosexuality, and gender. In tandem with its investigation of existing data concerning what the impact of people with disabilities is, the project will explore the normative questions of how families and society ought to think about and respond to different kinds of disability. The project will produce a policy statement on the nature of disability and about the values that ought to be considered in decisions about prenatal testing aimed at the elimination of disabling conditions.

This project's primary objective is to provide tools and resources for open and informed public discussion about behavioral genetics, and about the significant ethical and social issues raised by it. Tools in this context means concepts and distinctions that facilitate clear, careful, and meaningful conversation among professional and lay groups. Meeting the project's primary objective entails four components: First, the Working Group, including behavioral geneticists, bioethicists, and others, will identify and describe the basic scientific ideas and methods of behavioral genetics research. Second, the Working Group will examine the extent to which behavioral genetics casts new light on enduring ethical and social questions and problems. Two large, interrelated categories capture the relevant issues; (a) identity and responsibility and (b) equality and justice. Third, to focus its inquiries concerning the basic scientific, ethical, and social issues, and to refine the conceptual tools and develop written and other resources, the Working Group will examine three cases: bipolar disorder; impulsivity, and intelligence. Finally, in addition to five interdisciplinary meetings of the Working Group at The Hastings Center, midway through the project there will be a public conference on the West Coast and a culminating public conference on the East Coast. The purposes of those conferences are both to introduce the tools and to hone them. To disseminate the tools, the project will develop a series of resources for lay and professional audiences, including a primer of behavioral genetics for the general public (which will appear both in hard copy and on the Web site we create), a special supplement of the Hastings Center Report distributed to diverse professional audiences, and a volume of essays for scholars.

The Center for Theology and the Natural Sciences will monitor the ongoing research of the HGP by drawing out its implications for theology and ethics. The project's long range value will be to provide interpretations of the data for use in public policy discussion and in genetic counseling. Six topics on the impact of new genome knowledge will be the subject of research: —> human nature, especially the relationship between biological determinism and human freedom; —> the relationship between divine and human agency in the creative process; —> evil and moral failure; —> reactions by different denominations and traditions in our society; —> articulating broad ethical issues; and —> the future of genetic counseling in the face of decisions regarding health and procreation. The primary research will be pursued by a core group of scholars drawn from the fields of genetics, theology, and ethics. An advisory committee will provide updates regarding genome research as well as enter into the process of evaluating the resulting papers. This committee will involve specialists in philosophy, theology, medicine, and genetics.

This empirical and normative bioethics research project will guide policy and practice about the disclosure of genomic incidental findings (GIFD), a much-debated topic. With ethical guidance from a multidisciplinary ELSI Working Group, we will conduct an experiment designed to develop strategies for offering incidental findings to family members of probands in a biobank for pancreatic cancer. Our approach will be informed by studying the preferences of biobank research participants (including kin).To our knowledge, no previous research has addressed the return of incidental findings to families. Yet biobanks face this question. Recommendations to guide practice are sorely needed. Mayo Clinic has collected germline DNA of pancreatic cancer probands in an NCI-funded SPORE biobank created for gene discovery. While seeking novel pancreatic cancer variants, we have identified 73 probands who are germline carriers of mutations in genes known to confer increased risk of diseases other than pancreatic cancer: BRCA2 (breast & ovarian cancer), CDKN2A/p16 (malignant melanoma), and CFTR (cystic fibrosis in offspring). Because these mutations are routinely disclosed in clinical practice and have serious health and/or reproductive implications, consideration of GIFD is justified. Given that the majority of the pancreatic cancer probands are deceased, many concerns arise: Who should be offered the findings, given that notification of the proband's legal next of kin may not assure that biologically at-risk family members are informed? Since relatives were not involved in the original biobank informed consent process, how should re-contact be managed? What disclosure proce- dures best meet family members' concerns? Is there an ethical threshold for determining when the researcher is obligated to offer GIFD? A partnership among 3 PIs-a genetic epidemiologist who directs the SPORE biobank (Gloria Petersen), an empirical researcher (Barbara Koenig), and a bioethics and law scholar (Susan Wolf)-combines the strengths of Mayo Clinic and the University of Minnesota (UMN). This project leverages the infrastructure of the SPORE biobank at Mayo Clinic and UMN's Consortium on Law and Values' history of NHGRI-funded work on incidental findings. This project addresses a critical problem in translational genomics research ethics. The Specific Aims-which combine descriptive and normative objectives-are: (1) to assess preferences of pancreatic cancer probands and their family members using a) interviews and b) a survey; (2) to conduct an in-depth ELSI analysis with an expert law and bioethics Working Group, leading to consensus recommendations; (3) based on the findings from Aims 1 and 2, to prototype and evaluate a procedure for offering findings to family members of probands who carry germline mutations; and (4) to develop "best practice" guidelines. This project will generate much-needed data on proband and family preferences, produce detailed analyses of the legal and ethical issues raised, create consensus recommendations, devise methods for honoring preferences, and advance sound biobank governance. PUBLIC HEALTH RELEVANCE: A goal of this project is to understand whether the family members of participants in cancer biobank research wish to be told about unanticipated genetic findings-a contested topic. Leaders in law, bioethics, and genetics, working with patient advocates, will consider the preferences of cancer patients and family members, asking: "what is the right thing to do?" In a first-of-its-kind study, they will next develop-and go on to test- procedures to offer information about unexpected findings to future research participants. The results of this study will have a direct impact on: (1) genetics and cancer researchers, and, (2) participants in biobanks and genetic research, including cancer patients and their families.

Stigma and discrimination are recognized as potentially important social consequences of advances in genetic information. This broadly conceived study of stigma will focus on public attitudes, behavioral intentions and policy orientations. Specifically, the study will examine the impact of perceived genetic etiology on orientations toward individuals and families affected by mental illnesses. The investigators will use a multi-method research plan that includes in-depth interviews with 100 adults from 5 ethnic groups (African-, Chinese-, European-, Mexican- and Puerto-Rican-Americans) and a random-digit-dial telephone survey of the adult U.S. population, with oversamples of each of the above minority ethnic groups, as well as of persons whose families are affected by a serious mental-illness, to address the following aims: —> to assess the impact of an attributed genetic etiology on orientations toward individuals and families affected by a serious mental illness; —> to determine the characteristics of respondents (e.g., education, age, or ethnicity) that are associated with more stigmatizing attitudes and orientations; —> to examine types of information that may ameliorate any stigmatizing effects of perceived genetic etiology; and —> to assess experiences of stigma on the part of families affected my mental illness and their perceptions of the way knowledge of genetic etiology may impact the stigma they face.

New information from the mapping of the human genome has the potential to significantly alter the way we view and react to individuals and groups. At the same time, our reactions to this new information will be shaped by the manner in which it is presented to and understood by the public and by existing attitudes about the groups to whom the information applies. The proposed research examines the impact of human genomic research on existing forms of stigma. Acknowledging the importance of the mass media in communicating genomic research to the public, we formed a collaboration between experts in stigma and communications to examine not only the content of information being disseminated to the public through the news media but also how the public understands and responds to that information. We focus on three stigma-related characteristics (schizophrenia, obesity, and race), and one relatively non-stigmatized characteristic to serve as a comparison group (heart disease). From previous research, we identify stigma-relevant frames and themes that have been prominent in the media, e.g., high vs. low genetic determinism and benefit vs. harm of genetic research. The aims of the proposed research are to: 1) Examine the prevalence of these frames and themes in recent newspaper and news magazine coverage. 2) Compare the prevalence of these themes in coverage of schizophrenia, obesity; racial differences, and heart disease. 3) Examine how the public comprehends, interprets, and reacts to stories reflecting the themes of determinism and harm. 4) Assess variations in these reactions depending on the human characteristic in question (e.g., obesity vs. heart disease). 5) Assess variations in reactions depending on respondents' characteristics. We address these aims in two phases: Phase 1 is a content analysis of 300 news stories, published between 2003 and 2006, about the causes of one of our four characteristics. In Phase 2, we construct synthetic news stories in which we vary the characteristic described and the themes of determinism and harm. Then, using a nationally representative sample of 700 people, we conduct an online experiment in which respondents are randomly assigned to read one version of the story. Respondents will answer open- and closed-ended questions assessing comprehension, interpretation, attitudes, beliefs and behavioral orientations in response to the story. Open-ended responses will be coded quantitatively to assess deviations in recall from the content of the article as well as attitudinal reactions.

The major goal of this study is to determine the feasibility of a CF screening program that, while incorporating pre- and post-test education for people with negative screening tests, provides personal counseling primarily for those who test positive for CF carrier status. The Vanderbilt research team will develop written and video materials, examine various settings for provision of carrier testing and determine the preferred setting from the consumer's viewpoint for provision of CF carrier testing, determine the factors that affect a couple's decision whether or not to be tested for CF carrier status, and determine general acceptance of population screening.