9/23/2014. Genetics knowledge in cardiology is developing rapidly. Professional recommendations support cardiac genetic testing
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1 How Does Family History Influence Psychosocial Adaptation in Individuals with Inherited Cardiomyopathies and their At-risk Family Members? Cynthia A. James, ScM, PhD, CGC Johns Hopkins ARVD/C Program, Division of Cardiology Jane Engelberg Memorial Fellowship Presentation, 2014 NSGC Annual Education Conference September 19, Genetics knowledge in cardiology is developing rapidly A 19 mm B 13 mm A B = 1μm 2 Professional recommendations support cardiac genetic testing 3 1
2 Genetic counseling recommended 4 Knowledge base to inform our practice is lacking Patients have significant adaptation difficulties Ability to identify patients at high risk for clinically significant distress is limited Ability to understand mechanism by which patients and families adapt or fail to adapt 5 Preliminary data: Family history was associated with LESS anxiety Variable Interval OR (PI) p Value Age 1 year older.96 (.91,.02) 0.10 Family History Yes.24 (.06,.88) 0.00 DASI 1 point.95 (.91,.996) 0.03 # of ICD Shocks 1 shock.98(.94, 1) 0.23 Controlling for age, functional capacity and arrhythmic history, individuals with positive family history = LESS likely to have clinically significant anxiety. Study of 86 adults with ARVC and an ICD (Jamal et al, 2012) 6 2
3 Preliminary data: Family history was associated with LESS depression In this sample 8 (9%) of participants met the HADS-D criteria for clinical depression (HADS-D 8). None had a known family history of ARVC. Study of 86 adults with ARVC and an ICD (Jamal et al, 2012) 7 Adaptation Facilitating adaptation to the medical, psychological, and familial implications of disease is part of the definition of genetic counseling. Adaptation can be defined as the process and outcomes of coming to terms with the implications of a health threat. It is a multidimensional concept typically including absence of psychological disorder, low negative affect, achievement of illness-related activities, and appraisals of well-being 8 Wallander s Risk and Resistance Model of Psychosocial Adjustment in Chronic Illness Emphasis on the modulating effect of resistance factors on the relationship between disease-specific risk factors and inter- and intrapersonal resistance factors. Chosen because a primary goal is to investigate how family history may influence resistance to adaptation difficulties 9 3
4 Study aims 1) Confirm preliminary evidence that a positive family history of disease is associated with lower anxiety and depression in ARVC and investigate the mechanism through which this protective influence operates. 2) Determine whether family history is associated with lower rates of anxiety and depression in HCM. 3) Identify other factors that affect adaptation to ARVC and HCM among affected individuals and at-risk family members. 4) Conduct an in-depth analysis of how a subset of affected individuals and at-risk family members perceive the influence of family history via interviews. 10 Study design Phase 1 (Aims 1-3) Administration of a cross-sectional questionnaire of up to 800 affected and at-risk adults in the Johns Hopkins ARVC and HCM Registries Phase 2 (Aim 4) Semi-structured telephone interviews of 30 survey participants to assess how individuals perceive impact of family history on adaptation 11 Population Adults Enrolled in the Johns Hopkins Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) or Hypertrophic Cardiomyopathy (HCM) research registries: Current clinical diagnosis OR At-risk for developing ARVC / HCM due to mutation status and/or family history. 12 4
5 ARVC and HCM Inherited cardiomyopathies with incomplete penetrance and variable expressivity ARVC Prevalance 1/5000 Mutations primarily in desmosomal genes identifiable in up to 60% Frequent ventricular arrhythmias / high risk of sudden death Placement of implantable defibrillators with frequent shocks common. HCM Prevalance 1/500 Mutations primarily in sarcomere genes in up to 60-70% Ventricular arrhythmias / high risk of SCD Atrial fibrillation Heart failure Surgical treatment 13 Wallander s Risk and Resistance Model of Psychosocial Adjustment in Chronic Illness Model informed selection of measures used in questionnaire: Risk factors Resistance factors Adaptation (adjustment) 14 Questionnaire measures Risk factors Disease factors Genotype Phenotype Family history Functional capacity Duke Activity Status Index (DASI) 12-item instrument designed for use with cardiac patients. Psychosocial stressors ICD implant ICD shock Surgical procedures 15 5
6 Questionnaire Measures Resistance factors Social (familial) factors Family APGAR perception of family support and functioning Subscales: Adaptability, partnership, growth, affection, resolve Stress processing Florida Patient Acceptance Survey ICD perceptions 16 Questionnaire Measures Adaptation Clinically significant anxiety and depression HADS Heart-focused anxiety Cardiac Anxiety Questionnaire - validated in both patients and family members Adaptation to genetic disease in the family Psychological Adaptation Scale Subscales (social integration, self-esteem, positive stress response, spiritual/existential impact) Validated in six separate studies of adults with a variety of genetic conditions and caregivers of children with genetic conditions. 17 Hypotheses to be tested H1: Having multiple affected individuals in a family improves mutual social support between family members H2: Familiarity with the disease via other family members may prime coping responses and provide buffering against psychological distress. 18 6
7 Qualitative exploration and validation (Aim 4) Guided by questionnaire results we will develop a semi-structured interview guide Telephone interviews with 30 survey respondents Qualitative analysis - interviews transcribed, double coded 19 Timeline 20 Advisory committee Samuel F. Sears, PhD Crystal Tichnell, MGC Lori Erby, PhD, CGC Hugh Calkins, MD Brittney Murray, MS, CGC Theodore Abraham, MD 21 7
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