Genetics in medicine : official journal of the American College of Medical Genetics
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To test the "false-reassurance hypothesis," which suggests that women who receive an uninformative BRCA1/2 test result may incorrectly conclude that they no longer have an elevated risk, with possible harmful consequences for adherence to breast surveillance guidelines. ⋯ No support was found for the suggestion that the nature of uninformative test results is often misunderstood. Moreover, an uninformative test result did not affect the positive mammography intentions of both affected and unaffected women.
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To describe the relationship between scientists and science writers and their experiences with media reporting of genetic discoveries. ⋯ To the degree that trust facilitates the access that science writers have to scientists, as well as higher quality interviews between scientists and science writers, trust might also contribute to higher quality media reporting. Therefore, scientists and science writers have an ethical obligation to foster trusting relationships with each other. Future research should systematically explore ways to cultivate such relationships and assess their impact on the quality of science journalism.
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To estimate CFTR mutation frequencies, clinical sensitivities (proportions of carrier couples or affected fetuses detected), and birth prevalence estimates for broad racial/ethnic groups and for a panethnic U.S. population. ⋯ Overall, the panethnic estimates for CFTR mutation frequencies are similar to those for non-Hispanic Caucasians. However, large differences in both clinical sensitivity and birth prevalence exist between the broad racial/ethnic groups examined. Whether and how the differences in the numbers of couples needed to screen to detect an affected fetus are to be included in prenatal screening for cystic fibrosis needs to be more explicitly addressed.
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Because of the explosion of genetic information resulting from the Human Genome Project and other developments in genetics and genetic technologies, primary care practitioners in Australia will be expected to have a much greater role in the practice of genetic medicine; however, little is published regarding their knowledge and attitudes to genetics, technologies, or genetics education. This study aimed to determine the genetics knowledge and educational needs of general practitioners (GPs) in Victoria, Australia, and their experiences in dealing with genetics in their practices. ⋯ These data, together with GPs' suggestions about educational strategies, are essential for developing appropriate genetics education programs and resources that are relevant for Australian health care.