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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.

This pilot project will develop a World-Wide Web document, the ELSI Electronic Case Book, to introduce primary care physicians and non physician providers to their future roles as facilitators of the genetic counseling process. Its purpose is to improve knowledge of and attitudes toward genetics and genetic counseling through cases based on familial breast cancer susceptibility and sickle cell disease; and to heighten awareness of ELSI and HGP advances, with special attention to ethnocultural barriers to care.

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.

This conference will provide practicing physicians with the information they need to integrate the latest developments in genetic medicine into direct patient care. The program planning committee is comprised of the major primary care provider professional associations AAFP, AAP, ACOG, ASIM, as well as the AMA's Ethics Institute, the College of American Pathologists, the American College of Genetics, the American Society of Human Genetics, the National Cancer Institute and the National Human Genome Research Institute.

This project is a collaborative effort of faculty from the Mount Sinai School of Medicine in the Departments of Human Genetics, Medical Education, the Morchand Center for Clinical Competence, Internal Medicine, Pediatrics, and Obstetrics and Gynecology. It is designed to evaluate the effectiveness of the use of Standardized Patients (SP) in resident education about the appropriate uses and issues associated with genetic testing, and to provide residents with training in genetic history taking and pedigree analysis.

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