ELSI Publications and Products Database

Women of reproductive age and the partners of those who test positive will be screened for CF mutations by new methods of rapid DNA analysis in this pilot study. The target population includes large numbers of Hispanic and Asian Americans, two groups which have not been studied extensively for either their CF mutation frequencies or their response to testing and counseling. Pre and post-test questionnaires will be used to determine level of understanding of CF, predictors of consent to testing, and emotional responses to implications of the test results in the various ethnic and socioeconomic subgroups. Strategies of pre-and post-test counseling will be compared for their effectiveness.

PROJECT SUMMARY/ABSTRACT Ms. Christi Guerrini is research faculty in the Center for Medical Ethics and Health Policy at Baylor College of Medicine (BCM). BCM is a premier academic health science center known for excellence in education, research, and patient care. The BCM main campus is located in the Texas Medical Center, which is the largest medical center in the world. The Center for Medical Ethics and Health Policy at BCM was established in 1982 and has created an academic culture defined by and supportive of collaborative research and teaching. Supported by NIH, PCORI, NEH, the Greenwall Foundation, the Milbank Memorial Fund, the Ford Foundation, and other private foundations, the Center's faculty have engaged in collaborative research that has resulted in more than 550 publications in the peer-reviewed literature, 150 chapters in medical and scientific textbooks, 100 chapters in scholarly monographs, and 35 edited or authored books. Ms. Guerrini is a graduate of Harvard Law School (JD 2001) and the University of Virginia (BA 1998), and she is currently a graduate student at University of Texas School of Public Health (MPH expected 2016). She was a practicing intellectual property attorney before transitioning to academia and has served as a full-time instructor in law schools in New York and Chicago. Ms. Guerrini recently completed an intellectual property fellowship at Chicago-Kent College of Law. She has published in academic law journals and this spring will have additional articles published in the peer-reviewed literature. Ms. Guerrini has served as an invited presenter or moderator at multiple legal conferences and colloquia, including the Supreme Court Intellectual Property Review, PatCon, the Law and Society Association Annual Meeting, the Chicago Intellectual Property Colloquium, and the Licensing Executives Society (US & Canada) Annual Meeting. Although Ms. Guerrini's academic and professional experiences to date have provided her a solid foundation in normative analysis and empirical methods, she will benefit from additional training to achieve her long-term career goals. These goals include becoming (1) an independent investigator and leader in the study of ELSI issues related to emerging models of biomedical research and (2) an expert in the conduct of qualitative and experimental studies to collect data that will inform health policies. To achieve these goals, Ms. Guerrini has proposed focused training in the following areas: theoretical and applied ethics; qualitative research design and data analysis; and conjoint analysis design and data analysis. The proposed plan also includes advanced instruction in genomics. The training will consist of formal coursework in ethics and genomics at Baylor College of Medicine and formal coursework in qualitative methodology and statistics at University of Texas School of Public Health, in addition to intensive training in conjoint analysis methodology at Johns Hopkins Bloomberg School of Public Health. This coursework and the proposed research will be conducted under the guidance of primary mentor Dr. Amy L. McGuire of BCM and co-mentors Dr. Sheryl A. McCurdy of University of Texas School of Public Health and Dr. John F.P. Bridges of Johns Hopkins Bloomberg School of Public Health. In addition, Dr. Richard Gibbs of BCM and Ms. Sharon Terry of Genetic Alliance will advise on the project as needed. The proposed research concerns the question of ownership claims and interests in the outputs of genomic research conducted in a collaborative ?citizen science? context. The internet is providing opportunities for citizen scientists to participate in the design and conduct of studies, and these initiatives are increasingly prevalent in the field of genomics, where web-based portals are collecting genetic sequencing data and connecting individuals to genomic studies requesting varying levels of involvement. It is unclear, however, whether genomic citizen scientists have legitimate claims to the outputs of that research?i.e., the findings, written products, and discoveries that are the results of the studies that they support. This research will identify gaps in practice, policy, principles, and preferences relevant to ownership interests in genomic citizen science outputs to provide a normative and empirical foundation from which to develop best practices and policies that will promote public trust and engagement in biomedical research.

In 1987 the Education Division of the Foundation for Blood Research developed, field tested, and distributed a human genetics curriculum unit for high school biology classes. The unit, titled 'Chances' Choices', is a free-standing interactive unit currently being used on an ongoing basis by at least 280 biology teachers and 15,000 students (annually) throughout the country. This project, in response to rapid advances in the field of human genetics, will revise, update and add to 'Chances' Choices'. The project will also develop an experimental theater component which will extend the human genetics information and issues to include middle school students and high school students other than those in biology classes. The first year of this 26 month project is to be devoted to updating the curriculum unit and to adding information on such current topics as DNA testing, the human genome project, gene therapy, insurance coverage issues, job security, confidentiality of laboratory test results and other information, and the genetics of cancer. During the second year, the updated and revised materials will be field tested by biology teachers and students in each of the 10 genetics regions in the United States. Also the pilot experimental theater component will be designed and tested in selected high schools. The results of the experimental theater pilot will be submitted for publication. Assuming only minimal distribution of the updated version of 'Chances' Choices' to teachers already using it, the proposed project has the potential to reach 280 teachers and at least 15,000 students yearly.

Pharmacogenetic testing is considered one of the most promising clinical applications arising from genomics research, with the potential to reduce adverse drug responses and improve efficacy of drug treatment. Because pharmacogenetic tests address a specific question about drug therapy, they have generally been viewed as having fewer ethical and social implications than other types of genetic testing. Yet some policy concerns will need to be addressed before pharmacogenetic tests can be introduced appropriately into clinical practice. A key concern is the potential for pharmacogenetic tests to generate ancillary clinical information unrelated to the drug treatment question for which testing is done - an informational 'side effect.' The ancillary information generated by pharmacogenetic tests is variable, and may include information about disease predispositions, prognosis, and drug responses other than those for which testing is performed. For example, testing for statin response might reveal information about risk of Alzheimer's disease or macular degeneration. These issues raise several questions: What would a reasonable person want to know about the scope of testing and access to test results? Should information about other potential uses of a test result be made available to the patient? Which health care professionals should routinely have access to pharmacogenetic results? This project will explore these policy challenges through the following specific aims: 1) determine the legal obligations of health professionals with respect to sharing of pharmacogenetic information and disclosure of ancillary clinical information; 2 &3) assess attitudes of the public and health professionals toward disclosure of different types of ancillary information related to pharmacogenetic testing and related issues of informed consent, counseling, and sharing of pharmacogenetic information among health professionals through focus groups and surveys, and 4) develop a stakeholder consensus regarding appropriate policies for counseling, informed consent and disclosure of ancillary information related to pharmacogenetic testing. PUBLIC HEALTH RELEVANCE - The results of this study will help to ensure the appropriate clinical integration of pharmacogenetic testing, and inform related issues arising with the increasing use of genetic testing for the general population, including risk communication and the appropriate roles of health professionals as we enter the era of genomic medicine in the US.  This study will also help inform determinations of whether new health infrastructures for pharmacogenetics are required beyond current systems for successful population-wide integration. 

About a dozen states have enacted laws restricting health insurers' use of genetic test information, and a new federal law declares that asymptomatic genetic predisposition to illness does not constitute a pre-existing condition. This project will evaluate the effects of these laws in 6 states using a qualitative, comparative, case study methodology. Three states with laws restricting insurers' use of genetic information will be matched with 3 comparable states that lack these laws. This multiple case study will consist of a mix of qualitative and quantitative data sources and analytical methods: (1) structured, in-depth, open-ended interviews of key informants by expert interviewers, (2) participant observational studies of insurance agents, (3) content analysis of sales literature and news articles, and (4) statistical analyses of archival documents and secondary data. The primary interview subjects will be health insurers, insurance regulators, insurance agents, patient advocacy groups, and clinicians. The results of this investigation will inform lawmakers, purchasers, and the public policy community whether and how these laws have achieved their intended purposes or caused any negative consequences, and how these laws might be strengthened or improved.

Young women with a positive BRCA1 and/or BRCA2 mutation test face a potentially deadly genetic legacy at a developmental critical time in their lives. After learning they are at a high risk for hereditary breast and ovarian cancer (HBOC) these women <35 years old must make decisions about their health care. Little is known about health behavior decision making in this specific population. The study sample will consist of 35-45 women between the ages of 18-35 years. This age group comprises the adult population of women identified in the breast cancer literature as "young" and having unique characteristics within the population of women with breast cancer. The purpose of this study is to increase our understanding of the health behavior decision making of young women who discover they are at high risk for HBOC. This study will describe how receiving genetic risk information affects decisions about actual health behaviors. The specific aims of the study are to: 1) To describe patterns of decision making about health behaviors in women <35 years in response to a positive or ambiguous genetic test result; and 2) To describe influences associated with health behavior decision making that are most salient to young women at risk for HBOC. A preliminary study with a subset of young women with a positive BRCA mutation test identified issues related to relationships, reproduction, a lack of treatment information specific to this age group and feelings of being different from peers. Grounded theory method will be used to increase understanding of health behavior decision making. Data will be collected in one to two semi-structured interviews with each participant and will be analyzed using the constant comparative method. Descriptions of patterns of decision making and influences associated with particular health behavior decisions will be based on the research participants' experiences. Increased understanding of the complexities of health behavior decision making in this specific population will be the first step in a research program to develop psychosocial interventions directed at young women at risk for HBOC.

The proposed International Meeting on Newborn Screening for Cystic Fibrosis is designed to provide current information on neonatal screening for Cystic Fibrosis (CF) to physicians (pediatric pulmonologists, gastroenterologists, pathologists, geneticists), State Health Department laboratory personnel, nutritionists and clinical psychologists. Investigators from the United States and several other countries will be invited to present their clinical and laboratory experience in CF screening. Such a meeting is considered timely, since the recent discovery of the CF gene may provide a new technique for screening and diagnosis, and its potential for improving the neonatal screening process is under active investigation at several centers around the world. The gene discovery and its implications for neonatal screening will be a major focus of this meeting. The ethical issues surrounding newborn carrier detection will also be discussed. This conference should be valuable to policy makers who wish to determine whether or not newborn screening for this disease should be widely implemented in the United States. The proceedings will be published as a supplement to 'Pediatric Pulmonology'.

The eMERGE project brings together researchers with a wide range of expertise in genomics, statistics, ethics, informatics, and clinical medicine from leading medical research institutions across the country to conduct research in genomics, including discovery, clinical implementation and public resources. The primary goal of eMERGE is to develop, disseminate, and apply approaches to research that combine biorepositories with electronic medical record (EMR) systems for genomic discovery and genomic medicine implementation research. In addition, the consortium includes a focus on social and ethical issues such as privacy, confidentiality, and interactions with the broader community. eMERGE website: https://www.genome.gov/27540473/electronic-medical-records-and-genomics…

This is a comparative anthropological analysis of the social networks associated with three groups of heritable connective tissue disorders: 1) Marfan syndrome, epidermolysis bullosa and chondrodysplasias. Using participant observation and interviews, the study will investigate the production and circulation of genetic knowledge among three interrelated constituencies: 1) laboratory researchers; 2) clinicians; and 3) lay support groups. The project aims to identify and describe institutions, events, and practices that facilitate or impede knowledge transfer among members of these groups. The project will also examine contrasts in 1) phenotypes and phenotypic variability; 2) pathogenesis; and 3) emerging approaches to diagnosis and therapy for each of these disease groups, first, as they are clinically and scientifically defined, and then, as they influence the social experiences and identity formation of affected individuals. This study will encourage and facilitate public education through documenting achievements in, and illustrating barriers to, the effective dissemination of new genetic knowledge. Finally, the project will train a new group of anthropologists to conduct future multi-site fieldwork on genetics and its social contexts.

The purpose of this study is to determine how the prospect of direct benefit to research subjects in gene transfer research (GTR) (usually called 'gene therapy') is understood and discussed by research subjects, investigators, study coordinators, and IRBs, and explained in consent forms. The research team expects to find that the prospect of benefit from receiving the investigational intervention is often exaggerated and that this exaggeration of benefit is accompanied by language confusion in consent forms, blending of the roles of physician and researcher, and other aspects of the review of research and the consent process. To investigate these issues, the researchers will interview investigators, study coordinators, and subjects in up to 40 recent GTR studies, to analyze consent forms and protocols for all GTR studies approved since 1990 (N=about 275), and to interview IRBs at institutions overseeing the 40 studies. They will develop a model that explains the variation in participants' understanding and discussion of benefit from GTR interventions, controlling for contextual factors, within and between these studies. They will separately assess variation in understanding and discussion of benefit in consent forms and by IRBs. The researchers hope to discover some ways of reducing the tendency toward exaggeration of benefit by careful attention to language in the consent form process, by education of investigators and IRB members, and by consideration of research. Based on these findings, the researchers hope to develop an improved policy standard for the presentation of benefit in GTR specifically and clinical research generally.

The UNC-CH Center for Genomics and Society focuses on newly emerging ethical, legal and social implications (ELSI) of genomics research as the field matures and shifts its focus from small efforts to those on a much larger scale. These gene discovery and disclosure activities involve large numbers of individuals from whom DNA has been collected, studies with a small number of individuals whose whole DNA sequences are being examined, and the creation of complex data sets that may be linked in a variety of ways to multiple other sources of data. DNA collected in these activities may test a population for the presence of a known genetic disorder, use genotypic data to develop guides for drug dosing, combine genotype and phenotype data for large-scale prospective studies, collect and store DNA and environmental data in genetic registries, or consolidate DNA collected by multiple investigators to create a "bank" for use in current or future exploratory studies. We argue that although large-scale gene discovery and disclosure efforts have tremendous scientific promise and the potential to lead more directly to changes in public policy or clinical practice, they also raise a wide range of ELSI issues not apparent in smaller-scale efforts. (1) "Scaling up" may change the implications of genetic information for individuals, families, or populations, particularly when genetic findings are ascribed to individuals by virtue of their membership in socially defined groups. (2) Large-scale genomic research may alter challenges to informed consent in response to shifting estimations of risk and benefit. (3) New technologies and data collection and storage capacities may pose unique ELSI issues as investigators, subjects and relevant institutions grapple with regulation of the use of DNA samples, control of data, and their dissemination. (4) All of these concerns are also integral to understanding the most efficient and judicious translation of genomic research findings into clinical or public health practice. We have assembled an interdisciplinary team of investigators to conduct a research on these ELSI issues raised by large scale genomics; offer a research ethics consultation service for genomic researchers; facilitate policy initiatives that are informed by our research findings; and provide training, education, and outreach particularly focused on underrepresented minorities, to foster continued ELSI research on large-scale genomics. In addition to our goal of addressing public health priorities in newborn screening and in the translation of other genetic technologies, inclusion of underrepresented minorities in all aspects of our Center activities highlights the importance of consultation from populations with greatest interest in and most affected by large-scale genomic studies intended to address health disparities.