Computer Solutions to Identify and Manage Women at

Computer Solutions to Identify and Manage Women at High Risk Kevin S. Hughes, MD, FACS Co-Director, Avon Comprehensive Breast Evaluation Center Massachusetts General Hospital Surgeon The Newton-Wellesley Hospital Breast Center

Patient enters data : Tablet PC i. Pad Website Patient educational materials Clinical Decision Support EHR Reviews Report Reviews suggested Management Clinical Decision Support Documents and Orders Adds clinical information EHR

Hughes. Risk. Apps www. Hughes. Risk. Apps. net Kshughes@Partners. org

Demo

Our Goal Find every mutation carrier for every hereditary syndrome known to man before disease occurs

Cancer Risk BRCA 1 F e m a l e M a l e BRCA 2 Breast 63% 55% Ovary 58% 30% Breast 6% BRCAPRO

BRCA 1/2 Mutation carriers in the US n Jewish 6, 191, 281 Not Jewish 154, 782 275, 230, 624 786, 373 281, 421, 906 (1/40) (1/350) Carriers 941, 155 ~1, 000 carriers ~350, 000 females 20 and older

15 years of genetic testing • BRCA tests to date – ~500, 000 • Assume 10% positive – 50, 000 BRCA 1/2 carriers found • Assume most tested patients had cancer – 95 to 99% of unaffected carriers not tested Likely the best of any adult hereditary syndrome

Family history Multiple relatives affected Young age at diagnosis Multiple primary cancers Unusual Cancer Male breast cancer

BRCAPRO

Options for high risk

Options for high risk Prophylactic Oophorectomy Chemoprevention Screening