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Identification and Management of Women at High Risk for Hereditary Breast and Ovarian Cancer

Learn about the identification and management of women at high risk for hereditary breast and ovarian cancer. Discover the options available for high-risk individuals, including chemoprevention, prophylactic oophorectomy, and screening. Find out how risk assessment tools and clinical decision support systems can improve patient care.

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Identification and Management of Women at High Risk for Hereditary Breast and Ovarian Cancer

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  1. Identification and Management of Women at High Risk for Hereditary Breast and Ovarian Cancer Kevin S.Hughes, MD, FACS Co-Director, Avon Comprehensive Breast Evaluation Center Massachusetts General Hospital Surgeon The Newton-Wellesley Hospital Breast Center

  2. DISCLOSURESHughesRiskApps.NetOpen Access Solutionhttp://www.HughesRiskApps.comSpeaker’s BureauMyriad Geneticskshughes@partners.org

  3. Cancer Risk BRCA1BRCA2 F e m a l e M a l e Breast 50-87% 50-87% Ovary 40-60% 10-20% Breast 6%

  4. CANCER SPORADIC HEREDITARY CANCER Hereditary vs Sporadic Cancer Knudson’s 2 hit hypothesis

  5. Family history Multiple relatives affected Young age at diagnosis Multiple primary cancers Male breast cancer

  6. Options for high risk

  7. Options for high risk Chemoprevention Prophylactic Oophorectomy Screening

  8. Breast cancer with and without RRSO (+/-HRT) Adjusted for age at start of follow up and stratified by center

  9. BRCA1/2 Mutation carriers in the US ~1,000,000 BRCA1/2 carriers

  10. BRCA1/2 Mutation carriers in the USFemales 20 and above between 1996 and today Close to 500,000 BRCA1/2 carriers

  11. 16 years of genetic testing: BRCA1/2 carriers found to date • ~60,000 (12%) of the ~500,000 carriers BUT Most people tested already have cancer Estimate that 95% of unafffected carriers remain unidentified

  12. Mammography in the 1970’s Patient presents with obvious cancer

  13. Mammography in the 1970’s Patient presents with obvious cancer Mammogram shows obvious cancer Minimal impact on population health

  14. Mammography today Millions of screening mammograms Tens of thousands of subclinical cancers identified Major impact on population health

  15. Risk identification today Age 35 presents with obvious cancer

  16. Risk identification today Age 35 presents with obvious cancer Pedigree shows obvious hereditary syndrome Minimal impact on population health

  17. Risk Assessment Tomorrow Millions of family histories collected and assessed Hundreds of thousands of high risk patients identified Tens of thousands of cancers prevented or found earlier Major impact on population health

  18. Find all mutation carriers Family history & selective testing Population based genetic testing Adult syndromes Newborn screening

  19. Memory-Based Medicine  “Current medical practice relies heavily on the unaided mind to recall a great amount of detailed knowledge”  Crane, Raymond, The Permanente Journal 7:62, 2003

  20. NCCN 2011, Genetic Testing

  21. Know models or use a computer BRCAPRO: Bayes-Mendel Model

  22. Data entry to do one computer model

  23. Clinician synthesizes patient data, compares to guidelines/models, determines next steps Personal History Family History Ethnicity Genetic Testing Who is at risk

  24. Dependant on paper form

  25. Patient completes paper form Reviews data using memory of guidelines Orders Genetic Testing Currently: Paper + memory

  26. EHR: Paper + extra work + memory Patient completes paper form Staff enters data into the EHR Reviews data using guidelines and algorithms Orders Genetic Testing

  27. Clinical Decision Support (CDS) Apply Algorithms/Guidelines to patient data Identify best course of action Results displayed as intuitive Visualizations BRCAPRO Mutation Risk 25% Suggest Genetic Testing Facilitates best action as part of workflow

  28. HughesRiskApps.Net Patient enters data into Tablet PC or iPad Patient educational materials Clinical Decision Support Flag for risk assessment

  29. Newton Wellesley HospitalSince 4/2007 • Over 50,000 unique patients • 2255 (4.5%) mutation risk 10% or greater

  30. Mammography patients needing risk assessment Not Jewish No Cancer Jewish No Cancer Not Jewish Cancer Jewish Cancer

  31. Demo

  32. DISCLOSURESHughesRiskApps.NetOpen Access Solutionhttp://www.HughesRiskApps.comkshughes@partners.org

  33. Version 3

  34. Monitor uptake on counseling

  35. Simplify Contact

  36. Simplify contact and record outcome

  37. If patient declines, record reason

  38. Module

  39. Average EHR today CDS

  40. Average EHR today Click open 4 screens

  41. Average EHR today, poor CDS

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