Rapid advances in molecular genetics and publication of the first draft of the Human Genome Project have ushered in a new era in medicine, where genetic information can be used to identify individuals predisposed to disease. While only 5-10% of common cancers are associated with mutations in highly penetrant genes, this translates to thousands of cancer cases attributable to genetic predisposition annually. The magnitude of genetic risk is dramatic. For example, the lifetime risk of developing breast or ovarian cancer for a woman with a BRCA1 or BRCA2 mutation ranges from 56- 85% and 17-60% respectively, in striking contrast to the general population risk of 11% for breast cancer and 1.6% for ovarian cancer. Application of genetic cancer risk assessment (GCRA) for hereditary cancer syndromes has heralded a new era of hope for the early detection or prevention of cancer. Identifying at-risk individuals allows for application of potentially tile-saving surveillance or preventive measures, and may improve the quality of life for individuals and families. Consequently, GCRA is now recognized as a standard of care for evaluation of the hereditary subset of several common cancers (e.g. breast, colon, uterus, and ovary). In order to translate the rapid advances of genetic technologies into the realm of preventive medicine, it is imperative that we explore any perceptions about genetic discrimination that may limit access to GCRA and consequently to risk appropriate cancer screening and prevention. The state of knowledge and opinions about genetic discrimination and protective legislation among physicians who directly influence access to GCRA is largely unknown. This proposal outlines a plan to assess the state of knowledge and opinions about genetic discrimination and protective legislation among 1,200 primary care physicians and oncologists in California, who serve as the gatekeepers of access to GCRA referrals. Preliminary work and initiated collaborations with the Cancer Legal Resource Center of Loyola Law School and the California Medical Association Foundation demonstrate the expertise and infrastructure needed to successfully implement the proposed study. The primary, data generated from this proposal will provide critical and timely insight into the state of knowledge, opinions, intended behaviors and experiences with genetic discrimination among California physicians. It will also provide a greater understanding of the extent to which concerns about genetic discrimination may influence access to GCRA services. The results of this project may document perceptions or gaps in knowledge that are potential barriers to care, and provide support for an educational intervention designed to improve the state of knowledge and understanding about genetic testing and genetic discrimination disks, protections and experience. Because genetic testing for hereditary cancer represents a new paradigm for predictive genetic testing in other adult onset disorders, the results of the proposed study will potentially have broad-based implications.
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