An update on family history.

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1 An update on family history. October 29-30, 2009 W. Gregory Feero, M.D., Ph.D. Faculty, Maine-Dartmouth Family Practice Residency Program, Fairfield, ME Special Advisor to the Director for Genomic Medicine NHGRI, NIH

2 Common complex disease: Behavior Variant B Environment Variant C Variant A = DISEASE

3 Uses of family history Organizing knowledge of family relationships and structure Learning of patient s concerns Informing differential diagnosis Case-finding Risk assessment* *contextualize genomic information

4 Family history is still the cheapest, most accessible, most time-tested way to get a rough estimate of the genetic component of disease risk.

5 The Spectrum of Genetic Testing Testing Rare disorders: Huntington s disease Prenatal screening: Expression profiling: Cystic fibrosis Breast cancer FAMILY HISTORY Genome scans: Complex disease risk Cancer syndromes: Pgx: Pgx: BRCA1 Abacavir Warfarin hypersensitivity metabolism Treatment selection: EGFR/breast cancer

6 Numerous guidelines for screening, testing, and management of a wide variety of disorders are modified by a positive family history e.g. USPSTF* AHA pre-athletic physical, ADHD rx ADA DM II screening ACOG prenatal care guidelines etc.

7 Led to the Launch of the U.S. Surgeon General s Family History Initiative in 2004

8 Goals of the U.S. Surgeon General s Family History 1. Increase awareness of family history. Initiative 2. Provide tools to gather, organize, evaluate, and communicate family history information. 3. Increase genomics and health literacy to prepare for the coming era of health care.

9 HIT and Family History More efficientdata collection Risk stratificationbyexpert system Pointof care patient/physician education Tracking care and integrationwith otherhealth Surgeon General's My Family Health Portrait 9

10 Family Health History Surgeon General s Initiative In 2004, the Surgeon General introduced the first version of the web-based tool, My Family Health Portrait. This tool helped consumers by enabling them to complete histories at home. However the original tool was NOT standards-based, interoperable, or EHR-ready. Surgeon General's My Family Health Portrait 10

11 Sponsoring Federal Agencies 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) Surgeon General's My Family Health Portrait 11

12 Family Health History Standards-based XML-based HL7 family history model LOINC SNOMED-CT HL7 Vocabulary Minimum core data set (AHIC/ HITSP) Surgeon General's My Family Health Portrait 12

13 Family Health History New interoperable tool In January 2009, the Surgeon General launched a new 2.0 family health history tool. The new tool is standards-based, interoperable and PHR/EHR-ready. Consumers can share histories electronically with other family members and doctors. Surgeon General's My Family Health Portrait 13

14 Family Health History Surgeon General's My Family Health Portrait 14

15 Family Health History Adopting Source Code Source code is available at: Help desk assistance is available. Phone: (888) /(301) Surgeon General's My Family Health Portrait 15

16 Next stop for MFHP: Developing open-source, interoperable interpretive capabilities for CRC risk for the public user. CDC NCI NHGRI OSG?

17 August 24-26, 2009

18 Family History and Improving Health Key Questions 1. What are the key elements of a family history in a primary care setting for the purposes of risk assessment for common diseases? 2. What is the accuracy of the family history, and under what conditions does the accuracy vary? 3. What is the direct evidence that getting a family history will improve health outcomes for the patient and/or family?

19 Family History and Improving Health Key Questions 4. What is the direct evidence that getting a family history will result in adverse outcomes for the patient and/or family? 5. What are the factors that encourage or discourage obtaining and using a family history? 6. What are future research directions for assessing the value of family history for common diseases in the primary care setting?

20 Family Hx SOS Two year planning process Panel of experts (health care providers, consumers, public health experts, epidemiologists etc) without conflicts Research recommendations based on: Extensive structured evidence review (AHRQ Evidence-Based Practice Center McMaster Univ.) Presentations by 18 expert speakers

21 Family Hx SOS Focused on evidence regarding: asthma atopic disease diabetes major depression and mood disorders stroke cardiovascular or heart disease breast, ovarian, colorectal, prostate, and lung cancer

22 Results: Accuracy of Reporting CHD FH Population Outcomes Case-control (n=1) Cross-sectional* (n=1) Intervention Index Test Structured questionnaire Reference Test Death certificates [1DR cases/controls] Specificity CHD 59/ 74 % All heart disease 70/ 83 % Sensitivity CHD 85/95 % All heart disease 83/ 90 % Concordance MI Father > MI Mother (hypertension) P. Lina Santaguida B.Sc.P.T., PhD Aug. 24, 2009

23 Bottom line: We know much less about the use of family history as a screening tool in primary care than we should.

24 25 research questions- (1) structure or characteristics of a family history (2) the process of acquiring a family history (3) outcomes of family history acquisition, interpretation, and application.

25 15. What are methods to minimize the time for collecting family history? Are there approaches to the assessment of family history across several office visits, self- administered questionnaires, ancillary personnel, or record linkage that are effective?

26 17. How might family history, including environmental and behavioral risk factors, be improved by a systematic, technology supported approach (e.g., electronic health records, record linkage, enhancing communication between family members)?

27 Thanks!

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