Genetic service providers interact with patients who are experiencing profoundly personal and emotional life events. Many interactions occur at the time of diagnosis of a serious or life-threatening disorder in a fetus, child or adult. Other interactions occur over the course of providing on-going care to genetically affected individuals, including care rendered near the end of life.

To realize the benefits of recent advances in cancer genetics, it is critical to identify and refer families in greatest need of genetic counseling and testing services. BRCA1/2 mutations that place an individual at higher risk for Hereditary Breast Ovarian Cancer (HBOC) Syndrome have been extensively screened for and documented within Hispanic populations. While professional and scientific organizations have set forth clinical criteria to identify individuals at high risk for HBOC there is a disparity in access to and use of cancer genetics services in Hispanic communities.

We propose to explore the potential of technology trusts - enabling collective action by the public sector involving diverse stakeholders - to pool intellectual property and to cultivate collective norms that can harness to R&D promising genomic technologies that can yield benefits for the poor and excluded. For markets that are small or resource-poor, the hurdles to benefiting from genomic technologies can easily become barricades to access.

One of the promises of genomic research is that information about a genetic disease or risk will increasingly provide the basis for screening and prevention to reduce morbidity and mortality. As a result, much of the meaningful medical action stemming from genetic information will take place under the auspices of primary care providers, underscoring the similarities rather than differences between genetic and other medical information.

Psychiatric genetic research (PGR) holds great promise for preventing, understanding, and treating neuropsychiatric disorders - a source of immense societal burden and personal suffering. Such research poses many ethical challenges, and failure to perform systematic study of the ethical issues surrounding PGR may threaten societal acceptance of this important scientific work. To date, NIH has not funded any work on PGR that focuses on collecting empirical data about ethical issues.

Testing for mutations in the BRCA1 and BRCA2 breast-ovarian cancer susceptibility genes has been performed in over 70,000 individuals. Like other sequence-based tests, the results can reveal a normal sequence, a clearly deleterious mutation or a sequence variant of uncertain significance (VUS), in which it is not known whether the VUS confers an increased cancer risk. VUS results are confusing and occur in approximately 12% of tests. Their adequate interpretation requires a basic understanding of genetic principles, the laboratory methods utilized and pedigree analysis.

Myocardial infarction (Ml) and peripheral arterial disease (PAD) pose an enormous public health burden and there is an urgent need to develop new strategies for their prevention and treatment. Both are manifestations of atherosclerotic vascular disease yet differ in risk factor profiles and clinical presentation. A major aim of this proposal is to identify novel genetic determinants of atherosclerotic vascular disease.

This project would address several questions concerning parental rights and responsibilities in forming families and the morality of using genetic technology to prevent or create children with impairments: 1) Are genetic impairments subject to greater concern than other alleged sources of harm to future children? If so, is that greater concern justified? 2) Do public attitudes, practices, and policies toward reproductive conduct take account of whether that conduct affects the identity of the future child? Should they?

Advances stemming from the Human Genome Project have prompted concerns about the general public's readiness to utilize this information to make informed health decisions. As a strategy to increase genetic literacy among the general public, tools are now available to enable individuals to record their family health history. However, little is known about whether the public is able to access the tools, understand how to use them, and apply the information by taking health protective actions, which can compromise the potential effectiveness of the tools.

The overall aim of the Center for Genomics and Society (CGS) renewal plan is to carry out an integrated set of transdisciplinary research, training, and policy activities addressing ethical, legal and social Issues involved in the application of genomics to the general public. Genomic testing is already being offered to the general public in an unstudied way by direct-to-consumer companies and through other venues and the use of DNA sequencing to screen populations for preventable health risks is being discussed.