Disclosure Whats New in Breast Cancer Genetics and Who Needs - PDF document

9/24/2018 Disclosure What’s New in Breast Cancer Genetics and Who Needs Testing? • I serve as a consultant for Myriad Genetic Laboratories. October 4, 2018 Holly J. Pederson MD Director, Medical Breast Services, Cleveland Clinic Associate Professor of Medicine, Cleveland Clinic Lerner College of Medicine Objectives • Review the current guidelines for genetic testing for breast cancer in women • Discuss recent developments in breast cancer genetics including newly identified genes and SNPs 1

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9/24/2018 Genetic Malpractice • Failure to refer for genetic counseling based on family history • Failure to recommend enhanced surveillance or to discuss preventive medications or risk reducing surgeries • Failure of “duty to warn” family members • Reproductive concerns • Errors in interpreting test results • Drug toxicity due to lack of use of pharmacogenomic tests Marchant EM et al Personalized Medicine 2011 3

9/24/2018 BRCA 1/2 Penetrance: Genotype/Phenotype Breast/Ovarian Hazard Ratios Rebbeck TR et al. JAMA 2015; 313: 1347-1361 4

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9/24/2018 Effects of SNPs on BRCA 1/2 Penetrance Couch FJ. PLOS Genet 9: e 1003212 2017 8

9/24/2018 Key Takeaways • Hereditary Cancer Risk is threatening and under recognized. • Pillars of risk management in high risk patients include enhanced screening and prevention. • Interdisciplinary management and consistent messaging is critical to the care of all women. 9

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