Integrating Genetics Into Your Practice

1. Integrating Genetics Into Your Practice Family Health Histories: More than Just Asking Questions and Getting Answers

2. Objectives • Recognize how disorders and health risks are passed down through families • Describe the benefits and role of family health history • Describe how to gather a family history from patients • Show techniques for talking with patients about sensitive issues

3. Acknowledgements • Illinois Department of Public Health • iNet • The Center for Jewish Genetics

4. Audience Poll • What type of health center do you work in? • Local public health department • State public health department • Hospital • Federally qualified health center • Private practice • Other

5. Audience Poll • What is your job position? • Nurse • Doctor • Genetic Counselor • Social Worker • Other health related position • Other non-health related position

6. Audience Poll • How often do you gather a family health history from patients? • Always • Sometimes • Never

7. Presenters • Erin Torti • Josy Villarubia

8. Family Health History (FHH) • Families share genetic, environmental, cultural and behavioral factors that influence their risk for many health conditions • Common chronic disease • Mendelian& chromosome disorders

9. Common Chronic Disease • Multifactorial inheritance • FHH is an established risk factor for common chronic disease and is incorporated into screening guidelines • 1st degree relative: 2-5x risk • Multiple relatives: >5x risk • Modifiable risk factors Feero, W.G., Bigley, M.B., Brinner, K.M., The Family Health History Multi-Stakeholder Workgroup of the American Health Information Community. (2008). 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. J Am Med Inform Assoc, 15(6), 723-728.

10. Mendelian & Chromosome Disorders • Prevalence : 2-5% • 30 % hospitalized children • 5-15% cancer • 50% intellectual disability • >14,000 conditions • Significant health and/or developmental issues • Risk to relatives derived from inheritance pattern • Rimoin, D., Connor, J.M., Pyeritz, R., eds. 1996. Emery and Rimoin’s Principles and Practices of Medical Genetics. Churchill Livingstone: New York.

11. Chromosomes

12. Autosomal Dominant

13. Autosomal Recessive

14. X-Linked

15. FHH: A Powerful Public Health Tool • Goals of FHH collection/assessment: • Personalized intervention • Education and support • Identification of at-risk family members • Widely accessible, inexpensive and accurate

16. The Gap • Obtaining FHH is standard of care • Most providers believe FHH is important • FHH is discussed in 51% of new visits and 22% of established visits; average discussion <2.5 minutes1 • In specialty practice, often limited to reason for visit • 96% of Americans believe FHH is important • Only 30% have attempted FHH collection and/or documentation Acheson, L.S., Wiesner, G.L., Zyanski, S.J., Goodwin, M.A., & Stange, K.C. (2000). Family history-taking in community family practice: implications for genetic screening. Genet Med, 2(3), 180-185. Summerton, N., & Garrood, P.V. (1997). The family history in family practice: A questionnaire study. Family Practice, 14(4), 285-288. Rich, E.C., Burke, W., Heaton, C.J., Haga, S., Pinsky, L., Short, M.P., & Acheson, L. (2004). Reconsidering the Family History in Primary Care. J Gen Intern Med, 19, 273-280. Sifri, R.D., Wender, R., & Paynter, N. (2002). Cancer risk assessment from family history: Gaps in primary care practice. J FamPrac, 51(10), 856.

17. Integrating FHH Into Your Practice

18. Who? • 3 generations • Living and non-living relatives • Specify relationships • Adopted vs. biological • Half vs. full siblings

19. What? • Sex • Current age • If deceased, age and cause of death • Diagnoses • Age of diagnosis • Environmental exposures, lifestyle factors

20. What? • Known genetic conditions • Abnormal newborn screen results • Birth defects • Intellectual disabilities, developmental delays, autism spectrum • Mental health • Stillbirth, SIDS, early deaths • Recurrent miscarriage • Neuro/muscular conditions (muscular dystrophies, Huntingtons, etc) • Early hearing or vision loss • Very tall/short stature • Blood disorders (hemoglobinopathies, hemophilia, clotting disorders, etc) • Bone or skin abnormalities (bone deformities, multiple birthmarks, etc) • Common chronic disease • Ancestry • Consanguinity

21. How? • Patient interview • Notes • Pedigree • Family-friendly collection tools Bennett, RL, et al. 2008. Standardized Human Pedigree Nomenclature: Update and Assessment of the Recommendations of the National Society of Genetic Counselors. J Genet Counsel 17:424–433

22. Paper Tools: IDPH FHHQ http://www.idph.state.il.us/HealthWellness/Genetic_Prog_Manual-LHDs.pdf

23. Paper Tools: IDPH Brochure http://www.idph.state.il.us/HealthWellness/FamilyHealthHistory_Brochure.pdf

24. Online Tools: My Family Health Portrait https://familyhistory.hhs.gov/fhh-web/home.action

28. Online Tools: Pregnancy & Health Profile and The Pediatric Family History Tool • Pregnancy: http://www.nchpeg.org/index.php?option=com_content&view=article&id=410&Itemid=277 • Pediatric: http://www.geneticsinprimarycare.org/YourPractice/Family-Health-History/Pages/Family-History-Tool-for-Pediatric-Providers.aspx

29. Suggestions for Obtaining FHH • Introduce topic and goals • Use common terminology • Be repetitive • If completed by family, review in person • Contact family members • Obtain records • Document “negative” family history, too • Provide feedback

30. Sensitive Information • Familial structure issues • Paternity, adoption, assisted reproductive technologies, estranged relationships • Losses • Stigma of health issues • Fear of health issues

31. Sensitive Information • Consider who else is in the room • Demonstrate empathy and good listening • Acknowledge life events • Use non-judgmental/People-first language • Condition vs. disease; has vs. suffers/afflicted • A baby with Down syndrome vs. Down’s baby • Acknowledge HIPAA

32. When? • FHH across the lifespan • Family Planning: preconception screening • Prenatal: prenatal diagnosis • Pediatric: newborn screen, developmental disorders • Adult: adult-onset conditions • Oncology: hereditary cancer syndromes • Geriatric: document for future generations • Many opportunities, can be beneficial in all programs

33. Not a one-time event • Update family history periodically • Births • Deaths • New diagnoses • Emphasize family’s responsibility to contact you if something changes • Encourage sharing with future generations

34. Assessment and Referrals • Assess • Genetic red flags: • Family history of multiple family members with the same or related disorders • Earlier age at onset of disease than expected • Condition in the less-often-affected sex • Disease in the absence of known risk factors • Ethnic predisposition to certain genetic disorders • Close biological relationship between parents • Counsel about lifestyle factors and population screening guidelines • http://www.everydaychoices.org/downloadables/pdf/englishPHP.pdf • Suspicious of genetic condition? • Contact Genetic Coordinator, local genetics providers, or IDPH Genetics Program Indications for Genetics Referral: A Guide for Healthcare Providers: http://www.acmg.net/AM/Template.cfm?Section=Practice_Guidelines&Template=/CM/ContentDisplay.cfm&ContentID=2748

35. IL Genetics Centers • Advocate Christ Medical Center • Advocate Medical Group at Lutheran General Hospital • Ann and Robert H. Lurie Children’s Hospital of Chicago • Carle Foundation • John H. Stroger Jr. Hospital • Insight Medical Genetics, LLC • Loyola University of Chicago • NorthShore University HealthSystem • Rockford Memorial Hospital • Rush University Medical Center with locations in DuPage, Kane, Kankakee and Will Counties • Southern Illinois University School of Medicine • St. Alexius Medical Center • Saint Louis University at Cardinal Glennon Children's Medical Center outreach clinics in Fayette, Jackson and Jefferson Counties • The University of Chicago • University of Illinois at Chicago – Metabolic outreach clinic in Sangamon County • University of Illinois at Chicago - OB/GYN • University of Illinois College of Medicine at Peoria

36. Final Thoughts • Knowing one’s FHH can be life-saving • Any step towards promotion of FHH collection and or/awareness is important • Collection aids can be helpful • Practice with your family  • Thanksgiving is National Family History Day

37. Resources • The Practical Guide to the Genetic Family History, 2nd ed., Robin L. Bennett • Genetics in Primary Care Institute: www.geneticsinprimarycare.org • IL Genetic Program Manual: http://www.idph.state.il.us/HealthWellness/Genetic_Prog_Manual-LHDs.pdf

38. Audience Questions

39. Marfan Foundation Family Health History Form

40. Audience Questions

41. Audience Poll • After watching this presentation, how often do you think you will gather a family health history from patients? • Always • Sometimes • Never

42. Resources • Illinois Department of Public Health Genetics Program www.idph.state.il.us/HealthWellness/genetics.htm • Genetic Education for Illinois www.easylearngenetics.net • The Genetic Alliance’s website on family health history www.geneticalliance.org/fhh • Surgeon General’s family health history initiative www.hhs.gov/familyhistory/ • Marfan Foundation www.marfan.org