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Using a combined qualitative-quantitative approach, this renewal project will explore clinicians strategies for communicating prenatal genetics information and service options to Mexican-origin clients in California and Texas, where Mexican-origin women constitute a large and growing proportion of women in prenatal care. The study will focus on clinicians with different professional backgrounds working in diverse practice settings within distinct regulatory contexts. Our specific aims are: 1) to identify the sociocultural factors which clinicians report affect their strategies for providing prenatal genetics information and service options to low income Mexican-origin clients, 2) to identify the institutional, practical, economic, and professional factors clinicians perceive as affecting their strategies for communicating prenatal genetics information and service options to such clients, and 3) to contrast the experiences and perspectives of clinicians providing prenatal genetics services to low income Mexican-origin women in California, which has a legal mandate regulating such services and Texas, which has no such comprehensive legal mandate.

This project will examine decisions about the use of prenatal diagnostic testing made by Mexican immigrant and Mexican-American families found to be at risk for having a child with a disability. The specific aims are: to identify the considerations Mexican immigrant families take into account when deciding whether to undergo amniocentesis after having been told they are at increased risk of having a child with a disability based on maternal serum alpha-fetoprotein (MSAFP) prenatal screening; to understand the role genetic counseling plays in shaping Mexican immigrant and Mexican-American families' understandings about prenatal diagnostic testing, their decisions about its use, and their experiences with the tests; to assess the influence of genetic counseling and the decision to accept or decline amniocentesis on Mexican immigrant and Mexican-American families' subsequent experiences of that pregnancy and any succeeding pregnancies during the following four years; and to investigate how Mexican immigrant and Mexican-American families reach consensus about whether the woman should undergo amniocentesis and how differences are resolved when they occur.

This project will investigate many general and far-reaching moral issues raised by the Human Genome Initiative, from distributive and intergenerational justice to concepts of personal identity, eugenics, and the implications of moral theories for policy development in genetics. The research will build upon sources in contemporary ethical work on the moral status of future generations, distributive justice including Rawls, equality of opportunity, and personal identity. The specific objectives of the research include examination of the implications of the possibilities for genetic intervention for equality of opportunity, investigation of the implications of anticipated advances in genetic knowledge and genetic intervention for conceptions of the nature of the self, comparison between modern genetic research and eugenics, and determination of the extent to which ethical theorizing can provide guidance for private individuals and public policy makers. Aided by outstanding scientists, the investigators will attempt to remedy the failure of contemporary ethical literature to engage with concrete problems of individual decision making or public policy. The methodology of this project is that of a historically contextualized, rigorous conceptual and normative analysis of the moral foundations of the pursuit of genetic knowledge and of capacities for genetic intervention.

The Institute of Medicine (IOM) through its Board on Health Sciences Policy established a panel of experts to evaluate issues in the development, application, and use of tests for genetic disorders. This two-year study is addressing a variety of issues presented by the rapid proliferation of genetic tests capable of predicting future disease in otherwise healthy individuals. It is also attempting to develop responsible approaches to resolving current and future problems presented by the rapid application of genetic tests. The study is focusing on the following areas: the availability of adequately trained personnel to administer and interpret tests; quality control and integrity in testing and approval for wide scale use of tests for single gene disorders; cost effectiveness of testing; access to test results, specifically by insurers; and the ethical dilemmas related to the issues of autonomy and privacy. One workshop on laboratory issues in human genetics was held in February 1992, and several additional workshops are planned for the remainder of 1992, with a public hearing scheduled for September 1992. Proceedings of these workshops and of the public hearing will be printed and disseminated. In addition, a comprehensive report including findings and recommendations will be delivered at the end of the study.

This 3 year project intends to modify existing genetics education curricula to create culturally competent education interventions (i.e., independent modules and a 20-hour comprehensive intervention) which will be targeted to the Native American college and university students, and to educators who teach Native Americans. The specific aims are to (1) develop, pretest, refine, promote, implement, and evaluate the effectiveness of culturally competent genetic education interventions (e.g., individual modules and comprehensive workshop) for Native American college and university students, and educators; (2) pretest and modify culturally relevant genetic educational information and resources, including, pre- and post-tests for the educational interventions; (3) compare the effectiveness (knowledge and attitudes) of the individual education modules implemented independently with the same module implemented as part of the 20-hour comprehensive education workshop; and, (4) initiate the development of a national database of scientists willing to provide genetic research mentor ship opportunities, and Native American students (college and graduate students) who are interested in genetic education, research and care. The overall goal of this application is to develop culturally acceptable materials providing Native American students with information so that they can make informed decisions about genetic issues and pursuing genetic science careers, including genetic counseling and research. The interventions will be implemented in geographically diverse settings throughout the U.S., primarily in conjunction with selected Native American science and education conferences and meetings, in order that more Native Americans can benefit from the proposed genetic education interventions.

Genomic research is rapidly producing new opportunities for understanding disease biology, and promises to enhance health care and health outcomes significantly through improved strategies for prediction and prevention, targeted drug treatment, and innovative molecular-based therapies. As with other seminal developments in biomedicine and technology, successful clinical translation requires a careful evaluation of the benefits and harms of specific interventions, in order to encourage uses that improve health outcomes and minimize applications that cause harm or accelerate health care expenditures without commensurate benefit. This challenge is matched by the need to reduce health care disparities. A major concern in the era of genomic health care is to insure that the medically underserved can benefit fully from genome technology, while at the same time not experiencing additional disparities due to genetic discrimination. Yet these groups often experience significant barriers to health care, including limited access to services and culturally inappropriate care. In addition, minority groups may view genomic health care with suspicion, because of historic associations between genetics and racism or because genetic science is viewed as threatening core cultural values. These perceptions, which challenge the acceptability of clinical uses of genetics, need to be taken into account in determining the benefits and appropriate uses of genomic technology. This Center of Excellence in ELSI Research will be dedicated to addressing two overarching themes accompanying the clinical integration of genomics: the need to define criteria for clinical integration that lead to clinically and socially appropriate applications of genomic health care; and the need for a translational pathway that incorporates the goal of reducing health care disparities among the medically underserved. A major product will be the identification and assessment of policy options for addressing these challenges. The specific aims of the Center are to: 1) Identify strategies for assessing the clinical utility of a range of different genomic applications to health care; 2) Assess the implications of different genomic health care applications for medically underserved populations; 3) Describe policy options for the clinical integration of genomes into health care, and their implications for addressing health and health care disparities; 4) Engage ELSI researchers and genetic scientists in on_going conversations about the interacting contributions of the environment, social structural factors, and genetics to health outcomes; 5) Provide training opportunities to encourage the participation of researchers from underrepresented minorities in the Center's research agenda and other ELSI research; and 6) Stimulate collaborative partnerships that result in additional funded research addressing these and related questions.

Genomic research is rapidly expanding our knowledge about the genetic contributors to health and disease. A broad range of health benefits will flow from this research, including tests to predict disease risk and guide drug use, innovative therapies, and improved understanding of the interactions between genetic and environmental contributors to health. However, the specific benefits will vary for different diseases and populations, influenced by the nature of the genetic and non-genetic contributors, and the availability and safety of therapeutic options. The likelihood of benefit for a particular individual or group will also be influenced by social, political and economic factors such as access to health care, meaning attached to genetic risk information, and cost and acceptability of specific interventions. In particular, medically underserved and marginalized populations may experience greater barriers to receiving benefit from genomic health applications, with the potential for genomics to exacerbate existing health disparities. In this renewal application of the Center for Genomics and Healthcare Equality, we will build on our existing work to develop methods for enhancing the benefits of genomic translation, with particular attention to the use of genomic technology to address population health and health disparities. The specific aims of our center are to: (1) Characterize the range of challenges and opportunities in the translation process from genomic discovery to health benefit with an emphasis on targeting benefits for medically underserved populations; (2) Develop methods to build and evaluate university - community and interdisciplinary partnerships, including deliberative processes and strategies to identify common ground; (3) Develop tools to assist decision-making about the clinical use and reimbursement of genomic health applications; (4) Provide training opportunities to encourage the participation of researchers from underrepresented minorities in the Center's research agenda and other ELSI research; (5) Stimulate collaborative partnerships that result in additional funded research addressing these and related questions. PUBLIC HEALTH RELEVANCE: This project will provide information and tools for researchers, clinicians, community members and policymakers, in order to improve the scope of benefits from genomic health research.

The overall goals of this project are to develop relevant, evidence-based clinical practice guidelines for genetic testing for BRCA1/2 through a consensus process involving community care practitioners and oncologists, and to evaluate the effect of the guidelines on clinical practice. The project will convene a Guidelines Group. Educational materials will be developed based on the guidelines, to aid clinicians in pedigree assessment, interpretation of the risks and benefits of BRCA1/2 testing, and use of cancer surveillance or other individuals with increased cancer risk. Educational seminars based on these materials will be presented to community physicians. These materials will be assessed using standardized patient encounters.

This project will develop knowledge about health care provider and patient perceptions of breast cancer, to guide the clinical use of DNA-based tests to measure inherited susceptibility for this condition. Information about inherited susceptibility to breast cancer could stigmatize individuals with positive test results and alter concepts of personal responsibility for health. As a new and highly sophisticated technology, DNA-based genetic susceptibility testing may also have potential for over-use, thus representing a new threat to cost-effective clinical care. The study will address these issues with questionnaires and interviews to determine: (1) how women receiving routine health care and primary care (PC) providers think about breast cancer risk, and their receptiveness to the use of a test for inherited susceptibility to breast cancer; (2) how women react to receiving risk information about breast cancer based on their family history; and (3) whether PC providers differ from genetics professionals in their approach to counseling concerning genetic risk for breast cancer. In addition, a Policy Group, comprising study investigators and experts in genetics, ethics and health services delivery will be formed and will meet regularly during the course of the project, to review study data and to identify the major policy considerations applicable to the use of the genetic susceptibility testing for breast cancer.

Multiple elements contribute to the successful translation of genetic advances into improved health outcomes. This project will address these elements through analysis of a series of genetic testing case examples. The specific aims are: 1) to identify a series of case examples that demonstrate a spectrum of plausible uses of genetic information to improve health outcomes; 2) to convene an expert Working Group that will work collaboratively with the Investigator Team to develop a model process that incorporates provisional clinical practice guidelines for the case examples, an inventory of ethical, legal and social issues raised for each case example, decision models based on the provisional guideline and ELSI inventory to assess the implications of uncertainties in key parameters of the testing process, compares the use of genetic information to accepted, non-genetic interventions in terms of medical, economic and social costs and benefits for each case example, and identifies research and educational priorities related to each case example; 3) to identify the characteristics that define genetic tests that are likely to improve health outcomes; 4) to compare the results of the different case analyses to determine the extent to which genetic testing requires special measures for informed consent and protection of privacy and patient autonomy; and 5) to conduct an evaluation of the model process within a large health care system.