1. Amnon Shabo (Shvo), PhD Co-Chair & Facilitator, Clinical Genomics Work Group Co-Editor, CDA R2 & CCD Co-Editor, HL7 Pedigree (Family History) Standard IBM Research Lab in Haifa Kevin S. Hughes, MD., FACS Surgical Director,Breast Screening Co-Director, Avon Comprehensive Breast Evaluation Center Massachusetts General Hospital, Partners Healthcare Co-Editor, HL7 Clinical Genomics Pedigree Specification W. Gregory Feero, MD, PhD Chief, Genomic Healthcare Branch National Human Genome Research Institute National Institutes of Health HL7 Clinical Genomics Family History (Pedigree) From PHR to CDS through EHR Haifa Research Lab

2. Family History: PHR-EHR-GEN Convergence EHR PHR Genomics Enable Decision Support e.g., risk analysis algorithms

3. Status of the HL7 Pedigree Specification HL7 v3 ANSI Normative (2007) Selected by HITSP to exchange FH between EHR and Clinical Decision Support (CDS) Applications CCD provides the medical history of the patient whose pedigree is exchanged EHR CDS PHR HL7 CCD HL7 v3 Pedigree HL7 v3 Pedigree

4. The Family History Model (ANSI 2007) Genomics Models Patient Relative HL7 Vocabulary= FAMMEMB Recursive Relation Clinical Data Family History Risk Assessment Results Estimated age of subject Estimated age of subject at diagnosis Relative Mother & Father IDs Genotype – Phenotype Associations

5. From PHR to CDS PHR: Dr. Greg Feero HHS Surgeon General FH tool Patient enters data Data exported as HL7 Pedigree instance CDS: Dr. Kevin Hughes HughesRiskApps Patient data from Surgeon General tool is imported Pedigree is constructed Risk assessment algorithms run We call EHR vendors to integrate FH communication through the EHR!

6. Greg Feero, MD, PhD, Chief, Genomic Healthcare Branch, National Human Genome Research Institute

7. Uses of family history Organizing knowledge of family relationships and structure Learning of patients concerns Informing differential diagnosis Case-finding Risk Assessment 7

8. As a tool for risk assessment, family health history is: Comparatively inexpensive and accessible Predictive of substantially increased risk of common disease especially if more than one close relative is affected Butterworth A. Public Health Genomics Unit, 2007 Generally quite accurate when obtained from patients, especially for close relatives AHRQ/McMaster University EPC, 2007 Part of many guidelines for care 8 Risk Assessment Tool

9. 9 First Edition Launched in 2004 More than half a million downloads Internet-based

10. Ideally electronic family health tools would- Collect structured data for CDs Utilize interoperable data structures Aid with interpretation 10

11. 11 Next-Generation Standardized data XML-based Share-able Downloadable Customizable

12. Key considerations for consumers HHS supplies a secure portal Individuals health information stays with the patient (NOT resident on government servers) Consumers can send (electronically) or carry the information to other family members Consumers visit the site, complete the data and maintain information control and security 12

13. Sponsoring Federal Agencies 13 Indian Health Service National Human Genome Research Institute National Cancer Institute Agency for Healthcare Research and Quality National Institute of Diabetes and Digestive and Kidney Disorders Office of Rare Diseases, National Institutes of Health Substance Abuse and Mental Health Services Administration National Office of Public Health Genomics, Centers for Disease Control and Prevention Office of the National Coordinator for Health Information Technology Office of Minority Health Office of the Surgeon General Office of the Assistant Secretary for Planning and Evaluation Federal Health Architecture (Veterans Health Administration and Department of Defense)

14. Arriving at standards for Family Health History Achieved in 2008 by a public/private task force convened by the AHIC Personalized Health Care workgroup Defined the minimum FHH data elements that every EHR and PHR should be able to capture HITSP approved interoperability Dec. 2008 14 New Standards and Enhanced Utility for Family Health History Information in the Electronic Health Record: An Update from the American Health Information Community's Family Health History Multi-Stakeholder Workgroup W. Gregory Feero, Mary Beth Bigley, Kristin M. Brinner The Family Health History Multi- Stakeholder Workgroup of the American Health Information Community J Am Med Inform Assoc 2008; 15: 723-728.

15. 15 Standards-based HL7 family history model LOINC SNOMED-CT HL7 Vocabulary Minimum core data set

16. Family Health History Portal 16

17. Create History 17

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19. 19

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21. 21

22. Family health history tool download features We encourage organizations wanting to augment consumer use to: Develop links to the site AND/OR Download and adapt the program to meet your needs Customize displays Connect with risk assessment tools Link to other consumer e-information New HIPAA FAQs on Family Health History: http://www.hhs.gov/ocr/hipaa/ 22

23. Where should you go to download the tool? GForge site: http://gforge.nci.nih.gov/projects/fhhhttp://gforge.nci.nih.gov/projects/fhh Site has automated capabilities for downloading Related information available on the site Click through End-User Agreement Architecture Review Committee documents Systems Architecture Document Interoperability Document (sample implementation applications) Frequently Asked Questions 23

24. Help Desk Support Technical help is available from: CBITT Application Support Email: ncicb@pop.nci.nih.govncicb@pop.nci.nih.gov Local: 301-451-4384 Toll-Free: 888-478-4423 Monday – Friday 8 a.m. to 8 p.m. ET http://ncicb.nci.nih.gov/support 24

25. 25 Bottom-line Consumer convenience and control Standards-driven Portability, share-ability EHR- and PHR-ready Downloadable and customizable

26. 26 Visit https://familyhistory.hhs.gov/ Questions: FHH@hhs.gov https://familyhistory.hhs.gov/ FHH@hhs.gov

27. Evaluating risk of hereditary syndromes Qualitative Pedigree Patterns of disease in the family Quantitative Risk algorithms determine Risk of carrying a disease causing mutation Risk of developing disease over time 27 Surgeon General's My Family Health Portrait

28. From PHR to CDS PHR: Dr. Greg Feero HHS Surgeon General FH tool Patient enters data Data exported as HL7 Pedigree instance CDS: Dr. Kevin Hughes HughesRiskApps Patient data from Surgeon General tool is imported Pedigree is constructed Risk assessment algorithms run We call EHR vendors to integrate FH communication through the EHR!

29. Evaluating risk of hereditary syndromes Qualitative Pedigree Patterns of disease in the family Quantitative Risk algorithms determine Risk of carrying a disease causing mutation Risk of developing disease over time 29 Surgeon General's My Family Health Portrait

30. The standard data structure of My Family Health Portrait allows interoperabilty with other software Value My Family Health Portrait data can be imported into clinical systems that draw pedigrees and run risk analyses Example: We will pull data into HughesRiskApps –Developed at Mass General Hospital/Newton Wellesley Hospital Import data Edit data Risk analyses 30 Surgeon General's My Family Health Portrait

31. DEMO 31 Surgeon General's My Family Health Portrait

34. Bottom left side of the screen, BRCAPRO has been run for each relevant family member, with the risk of mutation shown for each

35. Top left side of the screen, Genetic Testing recommendations are made

36. Top right side of the screen, Myriad and BRCAPRO results are shown with the ability to use the slider to set the clinicians decision as to the risk of mutation

37. Right bottom side of the screen, family members are listed in order of likelihood of mutation. The willingness of each to be tested can be recorded.

38. Lifetime risk of breast cancer and the management suggestions are shown for multiple scenarios: without testing (Current synthesis), as if the patient tested positive, as if the patient tested negative and the population risk

39. Lifetime risk of ovarian cancer and the management suggestions are shown for multiple scenarios: without testing (Current synthesis), as if the patient tested positive, as if the patient tested negative and the population risk Lifetime risk of ovarian cancer

40. Gail model results are displayed

41. Claus model results are displayed

42. Myriad model results are displayed

43. Colorectal Models in prototype

44. References Scheuner 2004 AmJMedGenSeminars Contribution Of Mendelian Disorders To Common Chronic Disease Hughes KS, Roche CA, Campbell CT, Siegel N, Salisbury L, Chekos A, Katz MS, Edell E. Prevalence of Family History of Breast and Ovarian Cancer in a Single Primary Care Practice Using a Self-Administered Questionnaire. The Breast Journal 9: 19-25. Jones JL, Hughes KS, Howard-McNatt M, Kopans DB, Moore RH, Hughes SS, Lee NY, Roche CA, Siegel N, Gadd MA, Smith BL, Michaelson JS. Evaluation of Hereditary Risk in a Screening Mammography Population. Clinical Breast Cancer 6(1): 38-44. Shabo A and Hughes, KS. Family History Information Exchange Services Using HL7 Clinical Genomics Standard Specifications. Int'l Journal on Semantic Web & Information Systems 1(4): 42-65 Dominguez FJ, Jones JL, Zabicki K, Smith BL, Gadd MA, Specht MC, Kopans DB, Moore RH, Michaelson JS, Hughes KS. Prevalence of Hereditary Breast/Ovarian Cancer Risk in Patients with a Personal History of Breast or Ovarian Cancer in a Mammography Population Cancer 2005; 104: 1849-53. Dominguez FJ, Jones JL, Zabicki K, Smith BL, Gadd MA, Specht MC, Kopans DB, Moore RH, Michaelson JS, Hughes KS. Prevalence of Hereditary Breast/Ovarian Cancer Risk in Patients with a Personal History of Breast or Ovarian Cancer in a Mammography Population Cancer 2005; 104: 1849-53. Dominguez FJ, Lawrence C, Halpern EF, Drohan B, Grinstein G, Black DM, Smith BL, Gadd MA, Specht MC, Kopans DB, Moore RH, Hughes SS, Roche CA, Hughes KS. Accuracy of Self-Reported Personal History of Cancer in an Outpatient Breast Center. J Gen Counseling, 2007

45. Interoperability Data can be shared with any HL7 compliant clinical software or Electronic Health Record Increased value of data entered by the patient Decreased workload for the clinician Clinical Decision Support helps the clinician provide the best care possible Surgeon General's My Family Health Portrait 45 Increased Quality of care with less work

46. EHRs/PHRs with a family history section that can import and export the full HL7 CG SIG Pedigree model Source: AHIC recommendati ons for a core data set

47. Ideally all EHRs/PHRs will have a family history sectionthat can import and export the full HL7 CG SIG Pedigree model For more information Clinical Decision Support and HL7 CG SIG Pedigre model Kevin S. Hughes, MD –kshughes@partners.org Amnon Shabo, PhD –SHABO@il.ibm.com My Family Health Portrait Greg Feero, MD, PhD –Feerow@mail.NIH.Gov Looking for Adopters