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

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Apr 12, 2023 6 likes •106 views

9/24/2018 Disclosure Whats 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

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What’s New in Breast Cancer Genetics and Who Needs Testing?

October 4, 2018 Holly J. Pederson MD Director, Medical Breast Services, Cleveland Clinic Associate Professor of Medicine, Cleveland Clinic Lerner College of Medicine

Disclosure

I serve as a consultant for Myriad Genetic

Laboratories.

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

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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

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BRCA 1/2 Penetrance: Genotype/Phenotype Breast/Ovarian Hazard Ratios

Rebbeck TR et al. JAMA 2015; 313: 1347-1361

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Effects of SNPs on BRCA 1/2 Penetrance

Couch FJ. PLOS Genet 9: e 1003212 2017

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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.

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