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Debra Duquette, MS, CGC DuquetteD@michigan

Place and Health: Understanding the Relationship Between Genetics, the Environment, and Our Health Behaviors April 5, 2011 Michigan Department of Community Health Genomics Program. Debra Duquette, MS, CGC DuquetteD@michigan.gov.

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Debra Duquette, MS, CGC DuquetteD@michigan

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  1. Place and Health: Understanding the Relationship Between Genetics, the Environment, and Our Health BehaviorsApril 5, 2011Michigan Department of Community Health Genomics Program Debra Duquette, MS, CGC DuquetteD@michigan.gov

  2. Identify two examples of health issues relevant to Genesee County that are related to genomics Childhood asthma Sudden cardiac death of the young Appreciate that prevention of health conditions related to genomics requires collaboration between local public health, state public health, communities, universities and genomic experts State resources Presentation Objectives

  3. Genomics Integration Requires Partners, Partners, Partners…! “…no important health problem will be solved by clinical care alone, or research alone, or by public health alone- But rather by all public and private sectors working together…..” JS Marks. Managed Care 2005;14:p11 Supplement on “The Future of Public Health”

  4. Asthma:An Example of Genomics/Family History Expanding Reach Of Environmental Project

  5. “Unlock your past for a healthier future” MDCH Genomics and Genetic Disorders Section “The Past Becomes the Future” MDCH Healthy Homes Section

  6. State of Michigan Healthy Homes University Program Mission Statement Maximize efforts to make homes safer by reducing multiple housing-related hazards that contribute to asthma, unintentional injury and overall quality of life

  7. HHU I 2005-2008 $989,737 HUD/$600,000 Leveraged Funds 300 low-moderate income families residing in Ingham County, MI with child with diagnosed asthma Basic and Custom Intervention HHU II 2008-2011 $875,000 HUD Funds/$560,000 Leveraged Funds 250 low-moderate income families with a child diagnosed with asthma residing in Ingham County, MI and certain ZIP codes in Eaton and Clinton counties Basic and Custom Intervention 10 homes in Flint, MI Pre/post environmental dust sampling for 50 homes State of MichiganHealthy Homes University (HHU) Program

  8. Genomics Approach of Healthy Homes University I • Objectives: • Identify asthma triggers and injury hazards • Assess knowledge, attitudes and behaviors • Provide education and intervention products • Promote behavior change. • The HHU staff complete four visits per home • Family history of asthma collected at first visit • All 300 homes receive the Basic Intervention • Eligible homes receive the additional Custom Intervention products and services • More family members with asthma in household, more resources provided

  9. Baseline Questionnaire • Demographics • Family History • First and second degree relatives ever diagnosed with asthma • Affected relative(s) who live in household • Asthma Severity • Medical Visit Frequency • Asthma Medication • Asthma Trigger Knowledge • Home Cleaning Frequency

  10. Family History Data

  11. Healthy Homes University Genomics: Outcomes • Applied principles of gene-environment interactions and family history knowledge in an actual public health project • Promote positive change in family knowledge, attitudes and behaviors regarding asthma triggers • 70% reduction in hospital visits and 50% decrease in self-reported symptoms for primary child identified with asthma in home • Show impact of collection of family history of asthma and collection of number of household members with asthma • Broader impact than one affected child per household • Reaches more than just 300 children/households • Document actual number of children and family members in household • For first 162 households enrolled, there were 150 relatives who ever affected with asthma in addition to the primary child with asthma in 93 households that also benefited from program • Demonstrated genomics value in allocation of limited resources • Families at greatest risk with greatest number of affected receive greater amounts of resources • Helping largest number of people with limited budget

  12. What to look for in a family history? distant biological relatedness close fewer number of relatives affected greater older relative’s age at diagnosis younger More risk Less risk

  13. What is Sudden Cardiac Death? • Specific • Witnessed death: victim in his or her usual state of health without acute symptoms for 6 hours prior to death • Unwitnessed death: victim last seen in his or her usual state of health without acute symptoms until <24 hours before death • General • Deaths occurring out-of-hospital or in the emergency room or as “dead on arrival” with an underlying cause of death reported as a cardiac disease http://www.mlive.com/news/grand-rapids/index.ssf/ 2011/03/autopsy_determines_cause_of_de.html Zheng ZJ, Croft JB, Giles WH, et al. State-Specific Mortality from Sudden Cardiac Death United States, 1999. MMWR Morb Mortal Wkly Rep. 2002;51(06):123-126.

  14. Sudden Cardiac Death of the Young (SCDY) • Variably defined as < 30, < 35, < 40 years of age • Especially tragic event; often high-profile, associated with young athletes • A potentially preventable condition, due to the heritable nature of certain cardiac disorders • More likely to have genetic determinants than similar conditions in older persons • Immediate family members of SCDY victims may be at increased risk of sudden death since majority of genetic causes are autosomal dominant

  15. Coronary artery disease Coronary artery abnormalities Myocardial disorders Hypertrophic cardiomyopathy Arrhythmogenic right ventricular dysplasia (ARVD) Dilated cardiomyopathy Other structural/functional abnormalities Primary pulmonary hypertension Restrictive cardiomyopathy Marfan syndrome with aortic dissection Aortic valve stenosis Primary electrical abnormalities/ion channelopathies Long QT syndromes Romano Ward Jervell Lange Nielsen Acquired Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Brugada syndrome Short QT Syndrome Wolf-Parkinson White syndrome Heart block: congenital or acquired Environmental causes E.g., commotio cordis (‘blow to chest’) cocaine, stimulants, inhalants, gasoline, others Etiologies of SCDY Adapted from Berger et al, Pediatric Clinics of North America (2004). 51:1201-1209

  16. MDCH SCDY Case Definition • Aged 1-39 • Death occurred out of the hospital or in the emergency room • Michigan resident • Death occurred in Michigan • Underlying cause of death cardiac-related, congenital cardiac malformations, or ill-defined/unexplained Cases selected from 220 ICD-10 Codes • Cardiac Related Codes • ICD 10: I00-I51 • Examples: • Cardiomyopathy • Cardiac arrhythmia • Atherosclerotic CVD • Congenital Cardiac Malformations • ICD 10: Q20-Q24 • Examples: • Atrial septal defect • Dextrocardia • Ill-defined/ Unexplained • ICD 10: R96-R99 • Examples: • Instantaneous death • Death occurring less than 24 hours from onset of symptoms, not otherwise explained

  17. Descriptive Statistics and Mortality Rates Age-Adjusted Mortality Rates: Statewide: 5.5 per 100,000 White Males: 6.4 per 100,000 Black Males: 15.8 per 100,000 White Females: 2.5 per 100,000 Black Females: 8.5 per 100,000 1-9 years: 0.5 per 100,000 (n=101) 10-19 years: 0.9 per 100,000 (n=148) 20-29 years: 3.3 per 100,000 (n=416) 30-39 years: 13.8 per 100,000 (n=1,671)

  18. Michigan’s Rate: 5.5 per 100,000 (up to 326 out-of-hospital SCDY per year) • Highest Rates: • Clare: 7.8 per 100,000 • Kalkaska: 7.3 per 100,000 • Genesee: 7.0 per 100,000 • Highest Number of SCDs: • Wayne: n=838 • Oakland: n=187 • Macomb: n=156 • Genesee: n=127

  19. Family History of SCDY • Michigan 2007 Behavioral Risk Factor Survey (MiBRFS) • 2,856 Michigan adults were asked about SCDY • 6.3% have a family history of SCDY • 26.2% with multiple relatives • 35.5% with first degree relative • Significantly more blacks (11.2%) than whites (5.4%) reported SCDY

  20. BRFS SCDY Family History

  21. Expert Panel Objectives • Confirm the cause of death or suggest an alternative cause • Describe the factors that may have contributed to the death • Identify possible risk to family members • Suggest recommendations for prevention of future deaths Journal of Community Health. April 27, 2010.

  22. Clinical and Family History African American teenage male Student, basketball player Symptoms 4 months – “skipped beats and fluttering” especially while playing basketball; dizzy when rising from chair; tired all the time; legs hurt all the time; he thought these symptoms meant he was out of shape so he would practice harder Private health insurance coverage Family History - mother had “stroke“ as teen; maternal uncle had heart attack at 40 years old Sports physical 4.5 months prior Never referred to cardiologist or specialist Weight 82nd percentile Day of Death Playing basketball, collapsed No CPR prior to EMS, police were needed to allow EMS access Locked AED at site, coach had no training on AED No pulse/not breathing Autopsy Enlarged heart, marked left ventricular hypertrophy. Diffuse myocyte hypertrophy with myofiber disarray and patchy interstitial scarring Hypertrophic cardiomyopathy Toxicology – negative for alcohol, illicit drugs Family members not made aware of genetic implications Michigan Case Study

  23. Hypertrophic Cardiomyopathy Inheritance: Autosomal dominant Clinical Findings: • Myocardial hypertrophy (wall thickness greater or equal to 13 mm) in the absence of hemodynamic stress • Chest pain, dyspnea, syncope • usually exertional, postural, postprandial • Decrease in exercise tolerance in young Screening: ECG, echocardiogram, genetic testing Treatment: Physical activity restrictions, medications, ICD, surgery http://www.nytimes.com/imagepages/2007/08/01/health/adam/18141Hypertrophiccardiomyopathy.html

  24. Expert Panel Findings Patient-related factors • Education when to seek medical care • Family history and screening Physician-related factors • Quality of pre-participation sports physical • Awareness of need to screen family members, and when genetics or cardiology referral indicated • Education on content of family history screening form System-related factors • CPR training for coaches, or CPR training for community and schools • If AED present on-site, require training and availability • Update Michigan High School Athletic Association pre-participation sports screening template to include 2007 AHA 12 point screen and 2004/2010 national consensus recommendations • Mechanism for family contact, including assuring autopsy report reaches primary care provider • Storage of biologic specimen / DNA

  25. Recommended 12 point screening protocol for young athletes (AHA 2007) • Personal History • Palpitations • Exertional chest pain/discomfort • Unexplained syncope • Exertional unexplained fatigue • Elevated systemic blood pressure • Heart murmur • Family History • Assess premature death, disability from heart disease in close relative younger than 50 years old • Known cardiovascular genetic conditions • Physical Exam • Assess heart murmur • Femoral pulses • Physical stigmata of Marfan syndrome • Brachial artery blood pressure

  26. Examples of 21 Action Steps to Prevent SCDY • Pre-participation Sports Screening/Physical and Follow-up • Recommend revisions to MHSAA sports participation form • Provider Education and Public Awareness of SCDY Risk Factors • Increase public awareness and provider assessment of SDY risk factors, including family history • Create standardized educational presentations for health care provider training • Public Awareness of Cardiac Symptoms and CPR/AED Training • Identify gaps in existing CPR/AED training mandates or professional guidelines for specific groups and settings • Emergency Response Protocols • Explore policies and investigate availability of AEDs for volunteer and other non-EMS responders • Medical Examiner Protocols • Develop protocols to cover DNA banking for SCDY cases; mechanisms for follow-up with families; and standardized coding for negative autopsy findings

  27. MDCH SCDY Website • Posted by MDCH in August 2010 • Features educational video with MDCH Chief Medical Executive and 2 families • MDCH SCDY data • 6 Expert Presentations • April Proclamation • Links to national and state resources www.michigan.gov/genomics

  28. Academia Wayne State University, Michigan State University, University of Michigan Employers/industry AED distributors (Phillips, Aventric, Medtronic), Health plans (Priority Health), Michigan Public Health Institute Health care delivery system Michigan State Medical Society, American College of Cardiology- Michigan Chapter, American Academy of Pediatrics-Michigan Chapter, William Beaumont Hospital, Detroit Medical Center, Spectrum Health, Henry Ford Hospital, Michigan Osteopathic Association, Michigan Association of Physician Assistants, Michigan Association of Certified Nurse Practioners, Society of Adolescent Medicine- Michigan Chapter, Michigan Association of Family Practice, Michigan College of Emergency Physicians, Michigan Association of Medical Examiners Media Local television news Detroit Free Press Communities American Heart Association, Michigan Association of Health, Physical Education, Recreation and Dance, Michigan Fitness Foundation, Michigan High School Athletic Association, Hypertrophic Cardiomyopathy Association, Sudden Arrhythmia Death Syndromes Foundation, Sudden Cardiac Arrest Association, Kayla Foundation, Gillary Foundation, families Government Michigan Department of Community Health (Cardiovascular Section; Vital Records; Genomics), Centers for Disease Control and Prevention, state legislatures (Senator Scott, Senator Clarke,, Representative Tim Bledsoe), local health departments SCDY internal and external partners

  29. MDCH Family History Fact Cards • Developed in 2007 and distributed to public and health care providers • Series of 6 cards covering general family history, asthma, cancer, diabetes, heart disease and osteoporosis www.michigan.gov/genomics

  30. MDCH Family History and Your Health Newsletters • Developed and distributed since November 2004 • Sent via e-mail to all Michigan libraries, clinics, chronic disease partners, and others • Focus on awareness of disease or risk factor month • Number of hits to newsletters ~400-800/month www.michigan.gov/genomics

  31. My Family Health Portrait National Family History Resources • www.hhs.gov/familyhistory • Does It Run in the Family? • http://www.geneticalliance.org/fhh • Family Reunion Guide • http://www.nkdep.nih.gov/familyreunion/ • Other websites: • http://www.cdc.gov/genomics/famhistory/index.htm • http://www.nchpeg.org/

  32. “I thought we were forgotten….I thought no one cared…” -Mother of 18 year old victim, upon being asked for a next-of-kin interview This project was supported in part by Cooperative Agreement #U58/CCU522826 from the Centers for Disease Control and Prevention. The contents are solely the responsibility of the authors and do not necessarily represent the official views of CDC.

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