B R U C E K. L I N, M P H B E C O M I N G A M O M / C O M E N Z A N D O B I E N T R A I N I N G J A N U A R Y 1 4, P M

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1 Understanding the Importance of Your Family Health History B R U C E K. L I N, M P H B E C O M I N G A M O M / C O M E N Z A N D O B I E N T R A I N I N G J A N U A R Y 1 4, P M

2 Disclosures Currently consulting with HughesRiskApps

3 Objectives Explain the key components of family health history Describe the importance of family health history to quality preconception/prenatal care barriers to obtaining needed information in clinical settings Red flags Risk assessment and management guidelines Describe strategies for timely collection of necessary information for clinical care FmHx collection tools Discuss strategies to test the usability/ impact of new approaches

4 What is a Family Health History? a written or graphic record of the diseases and health conditions present in a family.

5 Value of Family Health History Help diagnose How to treat patient Family History Promote risk assessment Build rapport with patients

6 Parts of a Family Health History Different ways to organize and display (e.g. pedigree) Critical elements Easily updated and accurate Allow detection and interpretation of patterns Promote communication Three generations Proband and historian First, second and sometimes third degree relatives, & bloodline Affected and unaffected relatives Source: National Coalition Health Professional Education in Genetics

7 Recording a Family Health History Grandparents generation Paternal Grandfather Paternal Grandmother Maternal Grandfather Maternal Grandmother Parents generation Paternal Uncle Dad Mom Maternal Uncle Maternal Aunt My generation Paternal Cousin Me Sister Brother

8 Red Flags 1. Family history of known or suspected genetic condition 2. Multiple affected family members with same or related disorders 3. Earlier age at onset of disease than expected 4. Developmental delays or mental retardation 5. Diagnosis in less-often-affected sex 6. Multifocal or bilateral occurrence in paired organs

9 Red Flags 7. One or more major malformations 8. Disease in the absence of risk factors or after preventive measures 9. Abnormalities in growth (growth retardation, asymmetric growth, excessive growth 10. Recurrent pregnancy losses (2+) 11. Consanguinity (blood relationship of parents) 12. Ethnic predisposition to certain genetic disorders

10 Red Flags Cystic Fibrosis European Ashkenazi Jewish Canavan disease Familial Dysautonomia Mucolipidosis IV Niemann-Pick disease Type A Fanconi anemia group C Bloom Syndrome Gaucher disease Ashkenazi Jewish Sickle Cell Disease African Asian Indian Middle East Mediterranean Betathalassemia Alphathalassemia SE Asian African Caribbean Tay-Sachs disease Ashkenazi Jewish French Canadian Cajun Pennsylvania Dutch Mediterranean Asian Middle Eastern Hispanic Caribbean

11 Risk Assessment & Management Guidelines During Prenatal or Preconception Period

12 Thinking About Your Own Family Health History

13 Risk Assessment & Management Guidelines During Prenatal or Preconception Period

14 Risk Assessment & Management Guidelines During Prenatal or Preconception Period Source: Jack BD et. al The clinical content of preconception care: an overview and preparation of this supplement. AJOG; S266

15 Preterm Birth and Family Health History Preterm birth a common, complex problem Preterm birth runs in families Women born preterm are more likely to deliver preterm About 20% of women who deliver preterm subsequently have another preterm birth (with the same partner) Can family health history be used as screening tool for health promotion and prevention? Sources: Chapter 5: Medical and Pregnancy Conditions Associated with Preterm Birth. In Preterm Birth: Causes Consequences and Prevention National Academy Press; Crider KS et. al. Genetic variation associated with preterm birth: A HuGE review Gen Med: 7; pp

16 Resources Online sites for consumers March of Dimes Genetic Alliance Centers for Di U.S. Surgeon General Finding a genetic counselor National Society of Genetic Counselor

17 Family History Collection Tools

18 Family History Collection Tools Who: Provider elicited vs patiententered information Format: Paper based vs electronic When: Prior to the visit vs in the clinic Graphic sources: Doctor and patient, TheNounProject

19 Paper forms

20 Does this patient need genetic testing? Age Vital Status Cancer status Age diagnosis Ethnicity/Religion Genetic testing

21 FirstPAGE: Prenatal Assessment Genetic Evaluation

22 Electronic Health Records What are EHRs? EHRs is not the same as health information technology

23 EPIC- IN dummy 8/30/12

24 GE Centricity- IN 9/19/11

25 What problem list looks like

26 Specialty EHR: Mid sized company

27 EHR Health Information Technology: Gaps in family history in the EHR Structured data Core data set for family history Genetic test results Interoperability Patient data entry (changing) Usability Clinical Decision Support (CDS) Risk Algorithms/Guidelines Pedigree drawing Latest classification of variants Documentation Slide courtesy of Kevin Hughes, MD

28 Helping busy doctors and nurses: Clinical Decision Support Clinical decision support (CDS) systems provide clinicians, staff, patients, and other individuals with knowledge and person-specific information, intelligently filtered and presented at appropriate times, to enhance health and health care. Source: Berner ES. Clinical decision support systems: State of the Art. AHRQ Publication No EF. Rockville, Maryland: Agency for Healthcare Research and Quality. June 2009.

29 EHR: Paper + extra work + memory Patient completes paper form Staff enters data into the EHR Reviews data using memory Genetic Consultation Slide courtesy of Kevin Hughes, MD

30 Value Proposition: Less work + CDS=Higher Quality Patient enters data into Tablet PC Patient and professional educational materials Clinical Decision Support Reviews Report & Pedigree Reviews suggested management Genetic Consultation Slide courtesy of Kevin Hughes, MD

31 Quality Improvement Consistently providing the best care to all patients Process vs Performance measures Outcomes? usability, acceptability, satisfaction Knowledge, confidence Improved health as a result of intervention

32 Case Study: Summative Evaluation Design Source of Data Outcome Method Administrators Patients Approach to integrating tool Challenges with implementation Level of effort and resources needed for integration Time required for patients to use tool Patient satisfaction with tool Interview Post-tool survey Providers Knowledge Confidence using family history Satisfaction using tool, including efficiency Perceived usefulness of tool Pre-tool survey Post-tool survey Provider behavior Provider practices regarding guidelines for: discussion, counseling, education; referrals to specialists; and screening tests offered and ordered Chart audits

33 Clinical Trial: Is the Information Given By a Patient to a Computer Accurate? Murray MF et. al within primary care practices, valid patient-entered FHH information can be obtained electronically at high rates than standard provider-entered data Source: Murray MF et al. Comparing Electronic Health Record Portals to Obtain Patient-Entered Family Health History in Primary Care. J Gen Intern Med Apr 16. [Epub ahead of print]

34 Acknowledgements Curriculum reviewer: A portion of this slide set is adapted from Family Health History For Prenatal Providers, funded through grant # U33MC12786 from the Health Resources and Services Administration

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