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

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

8. Options for high risk Chemoprevention Prophylactic Oophorectomy Screening

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

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

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

12. 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

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

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

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

16. Risk identification today Age 35 presents with obvious cancer

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

18. 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

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

20. 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

21. NCCN 2011, Genetic Testing

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

23. Data entry to do one computer model

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

25. Dependant on paper form

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

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

28. 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

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

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

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

32. Demo

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

34. Version 3

36. Monitor uptake on counseling

38. Simplify Contact

39. Simplify contact and record outcome

40. If patient declines, record reason

41. Module

43. Average EHR today CDS

44. Average EHR today Click open 4 screens

45. Average EHR today, poor CDS