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Kevin S.Hughes, MD, FACSCo-Director, Avon Comprehensive Breast Evaluation Center
Massachusetts General Hospital
SurgeonThe Newton-Wellesley Hospital Breast Center
Computer Solutions to Identify and Manage Women at High Risk
Reviews Report
Reviews suggestedManagement
Adds clinical information
Documents and Orders
Patient education
al materials
Clinical Decision Support
Patient enters data : Tablet PC
iPadWebsite
Clinical Decision Support
EHR
EHR
Demo
Our Goal
Find every mutation carrier for every
hereditary syndrome known to man before
disease occurs
Cancer Risk
Breast 63% 55%
Ovary 58% 30%
Breast 6%
Female
Male
BRCA1 BRCA2
BRCAPRO
BRCA1/2 Mutation carriers in the US
~1,000,000 carriers
~350,000 females 20 and older
n CarriersJewish
(1/40) 6,191,281 154,782
Not Jewish(1/350) 275,230,624 786,373
281,421,906 941,155
15 years of genetic testing• BRCA tests to date
– ~500,000
• Assume 10% positive– 50,000 BRCA1/2 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 CancerMale breast cancer
BRCAPRO
Options for high risk
Prophylactic Oophorectomy
Screening
Chemoprevention
Options for high risk